OU MFM board qs

Lipid affinity (2/14) — Options: An assay of epoxide hydrolase in fetal amniocytes or skin fibroblasts was shown to predict the risk of fetal hydantoin syndrome. Alternate tissues such as chorionic villus samples or cultured placental tissue cannot be used in this assay. / Least commonly seen with Dilantin use: hypoplastic nails / Fetal hydantoin syndrome: facial dysmorphology, cleft palate, VSD, growth restriction, and mental retardation. Syndrome includes dysmorphic facies (short nose, low nasal bridge, epicanthic folds, hypertelorism, abnormal ears, wide mouth), hypoplasia of distal phalanges (especially involving the nails), fingerlike thumbs, short or webbed neck, low hairline, and abnormalities of growth and of mental and/or motor development — estimated to occur in about 10% of exposed children.

The LEAST commonly seen feature with Dilantin (phenytoin) use is hypoplastic nails (occurs but less frequent than facial dysmorphology, MR, or growth restriction). Fetal hydantoin syndrome (~10% of exposed children): facial dysmorphology (short nose, low nasal bridge, epicanthal folds, hypertelorism, wide mouth, abnormal ears), hypoplasia of distal phalanges/nails, fingerlike thumbs, growth restriction, developmental delay. Fetal amniocyte/skin fibroblast epoxide hydrolase assay predicts susceptibility; CVS/placental tissue cannot be used. (Clinical Obstetrics: Fetus & Mother 4e p.1507)

Lipid affinity (3/14) — Options: 10% of exposed children (Source: Reprotox). / The use of valproic acid carries what risk of NTD? / © 0.1% - 0.2% / © 1-2% / First-trimester valproic acid use results in 1-2% risk of having a fetus with spina bifida, but the mechanism / may be different from that of ather antiepileptic agents (ACOG Practice Bulletin #44, Neural Tube / Defects) / + 3-5% / © 15-20% / ° S0% / Anticoagulants / Antidepressants / ACEs and ARBs: / Retinoids / What drug is commonly associated with microtia? / * — {sotretinoin / Retinoids (systemic, not topical) can result in increased risk of CNS, cardio-aortic, ear, and clefting defects, / microtia, anotia, thymic aplasia and other branchial arch and aortic arch abnormaltites, and certain congenital / malformations. The elimination half-life of the iongest-lived isotretinoin metabolite is up to 50 h, suggesting that / most of the drugs and its biotransformation products would be gone within 10 d of the last dose. Itis currently / recommended that isotretinoin be discontinued at least one month prior to attempting pregnancy, although / pharmacokinetic considerations suggest that this time period may be longer than necessary (Source: Reprotox). / Hormones / Antineoplastic agents / What feta! anamolies are seen with maternal ingestion of a folic acid antagonist? / * Cardiac / ¢ Amniotic band / The most characteristic malformation induced by methotrexate (as well as its closely related analog, aminopterin) / is a “clover-leaf” skull with a large head, swept-back hair, low-set ears, prominent eyes, and wide nasal bridge. / Limb defects and absent ossification centers have also been reported, as well as CNS abnormalities including / anencephaly, hydrocephaly, and meningomyelocele. There have also been reported cardiac defects (Source: / Reprotox)

The risk of NTD (specifically spina bifida) with first-trimester valproic acid use is 1-2%. The correct answer is the "1-2%" option. Valproic acid carries a 1-2% risk of spina bifida when used in the first trimester, which is substantially higher than the background population risk of ~0.1-0.2%; the mechanism may differ from other antiepileptic drugs. Isotretinoin-associated defect: microtia (ear malformation) is classically associated with isotretinoin use. (Berghella MFM Guidelines 4e p.208)

Lipid affinity (8/14) — Options: pregnancy should not be considered a reason to terminate pregnancy. / Persons who receive MMR vaccine do not transmit the vaccine viruses to contacts. Transmission of varicella / vaccine virus te contacts is rare. MMR and varicella vaccines should be administered when indicated to children / and other household contacts of pregnant women. Infants iiving in households with pregnant women should be / vaccinated with rotavirus vaccine according to the same schedule as infants in households without pregnant / women. / Pregnant women should be evaluated for immunity to rubella and varicella and be tested for the presence of / HBsAg during every pregnancy. Women susceptible to rubella and varicella should be vaccinated immediately after / delivery. A woman found to be HBsAg positive should be monitored carefully to ensure that the infant receives / HBIG and begins the hepatitis B vaccine series no later than 12 hours after birth and that the infant completes the / recommended hepatitls 8 vaccine series on schedule. No known risk exists for the fetus from passive immunization / of pregnant women with immune globulin preparations (Source: From CDC, General Recammendations on / Immunization Recommendations of the Advisory Committee on Immunization Practices (ACIP}). / Radiation / Which of the following rediographic imaging causes radiation exposure of greater than 1 rad? / * CT pelvimetry / © = Barium enema / ¢ Plain abdominal film / © Chest x-ray / Whot test has the least radiation? / ¢ Lumbar myelogram / * CT with contrast / © CT pelvirnetry / *¢ Abdominal fiat and lateral? / © ive / Estimated Fetal Exposure From Some Common Radiologic Procedures (Source: ACOG Committee Opinion #299, / Guidelines for Diagnostic Imaging During Pregnancy _. / Fetal exposure

Which radiographic procedure causes fetal exposure greater than 1 rad? The correct answer is barium enema (2-4 rad). CT pelvimetry is also high (~250 mrad = 0.25 rad). For reference: chest x-ray 0.02-0.07 mrad; abdominal film ~100 mrad; IVP >=1 rad; barium enema/small bowel series 2-4 rad; CT abdomen/lumbar spine ~3.5 rad; CT pelvimetry ~250 mrad. The test with least radiation among the choices is the chest x-ray (2 views). (ACOG Committee Opinion #299 as cited in card text; Williams Obstetrics 21e p.1143-58 as cited in card text)

Lipid affinity (10/14) — Options: Gy (5-10 rads) range for some stages of gestation. However, a practical threshold for congenital effects in / the human embryo or fetus 1s most likely between 0.10-0.20 Gy (10-20 rads). / © From about 16 weeks’ gestation to birth, radiation-induced noncancer health effects are unlikely below / about 0.50 Gy (50 rads}. Although some researchers suggest that a smail possibility exists for impaired / brain function above 0.20 Gy (10 rads) in the 16- to 25-week stage of gestation, most researchers agree / that after about 16 weeks’ gestation, the threshold for congenitat effects in the human embryo or fetus is / approximately 0.50-0.70 Gy (S0~70 rads). / Ultrasound / Maternal conditions (Nutritional deficiencies, DM, PKU) / Phenylketonuria causes… / * Narrow nasal tip / * — Stippled epiphysis / * = Cardiac defects / * — Slanting eyebrows / Phenylketonuria is an autosomal recessive disorder of phenylalanine (Phe} metabolism characterized bya / deficiency of the hepatic enzyme, phenylalanine hydroxylase (PAH), an enzyme responsible for the conversion of / phenylalanine to tyrosine, and elevated levels of Phe and Phe metabolite. If untreated, phenylketonuria (PKU) can / result in fetal growth failure, microcephaly, seizures, and mental retardation. / Importantly, phenylalanine crosses the placenta by an active transport process that results in a fetal-to-maternal / plasma phenylalanine ratio of 1.5. Therefore, higher levels of phenylalanine exist in fetal blood than would be / expected based on the maternal blood level. The developing brain and heart are particularly vulnerable to high / concentrations of blood phenylatanine. Children born to women with PKL on unrestricted diets have a 92% risk for"

Phenylketonuria (PKU) causes which fetal complication? The correct answer is cardiac defects. Maternal PKU with uncontrolled phenylalanine causes in offspring: mental retardation (92% on unrestricted diet), microcephaly (73%), and congenital heart defects (12%). Phenylalanine crosses the placenta actively with a fetal:maternal ratio of 1.5, so fetal levels are higher than maternal. Narrow nasal tip and stippled epiphysis are not classic features of maternal PKU embryopathy. (ACOG Committee Opinion #449 Maternal Phenylketonuria as cited in card text) (Williams Obstetrics 26e p.820)

Lipid affinity (12/14) — Options: in oculogenesis and other developmental processes. (Source: OMIM #607 108} / Haploinsufficiency / © Occurs when one copy of a gene is insufficient for normal development and is a classical example of / Mendelian inheritance / The main cause of death in DiGeorge’s syndrome/velacardiofacial syndrome is / ¢ ~=©Congenitai heart disease / © Thymic aplasia / © Hypocaleemia / DiGeorge’s syndrome (DGS; MIM 188400} takes its name from Angelo DiGeorge, who in 1965 reported an / association between defective cellular immunity and hypocalcaemia in neonates. in 1978, Robert Shprintzen / described an apparently separate condition, velocardiofacial syndrome (VCFS; MIM 192430), comprising cleft / palate, velopharyngeal insufficiency, congenital heart defects, facial dysmorphism, and learning difficulties, / Presenting later in childhood. These two syndromes, along with a third condition, conotruncal anomaly-face / syndrome, were later found to overlap extensively, and are now recognised to be different manifestations of the / same developmental disorder, referred to hereafter as DGS/VCFS. The main cause of illness and death in DGS/VCFS / is congenital heart disease. The defects vary in type, but usually involve abnormalities of the cardiac outflow tract / and aortic arch, especially-tetralogy-of Fallot, persistent truncus arteriosus, and interrupted aortic arch Other / defects include hypoplasia or aplasia of the thymustand parathyrotds, cleft patate, velopharyngeal insufficiency, / hearing loss, and mild facial dysmorphismsincluding low-set abnormally-folded ears and a small mouth and jawin / young children, and a prominent nose in older patients. In addition, affected children frequently have / neurobehaviourat probiems, especially tearning difficulties, specific cognitive defects, and attention deficit

Defects in cardiac septation are caused by which gene? The correct answer is NKX2-5. NKX2-5 mutations cause cardiac septal defects and atrioventricular conduction block. The Drosophila gene tinman (named after the Wizard of Oz character) results in arrested development of the dorsal vessel (insect heart) when mutated; NKX2-5 is the human gene closely related to tinman. PAX6 (a paired box gene) is involved in oculogenesis, not cardiac septation. (Goodman FR. Lancet 2003;362(9384):651-62 as cited in card text) (Fetal Medicine (Rodeck & Whittle) p.113)

Lipid affinity (13/14) — Options: disorder, and affected adults are at increased risk of developing psychiatric illness, especially schizophrenia, / schizoaffective disorder, and bipolar disorder. Atthough most cases are sporadic, autosomal dominant inheritance / has been recorded in many small families. TBX1 has an essential role in the growth and patterning of the entire / pharyngeal apparatus, which suggests it is the key gene underlying DGS/VCFS (Source: Goodman FR. Congenital / abnormalities of body patterning: embryology revisited. Lancet. 2003 Aug 23;362(9384):651-62.) / Overactive Sonic Hedgehog signaling may results in / *® Holoprosencephaly / « Hereditary cancer syndrome / «Diabetes / Holoprosencephaly (HPE} is the most common structural malformation of the human forebrain and occurs after / failed or abbreviated midline cleavage of the devetoping brain during the third and fourth weeks of gestation. HPE / occurs In up to 1 in 250 gestations, but only 1 in 8,000 live births {Lacbawan et al., 2009). Classically, 3 degrees of / severity defined by the extent of brain malformation have been described. In the most severe form, ‘alobar HPE,’ / there is a single ventricle and no interhemispheric fissure. The olfactory bulbs and tracts and the corpus callosum / are typically absent. In ‘semilobar HPE,’ the most common type of HPE in neonates who Survive, there is partial / cortical separation with rudimentary cerebral hemispheres and a single ventricle. In ‘lobar HPE,’ the ventricles are / separated, but there is incomplete frontal cortical separation (Corselio et al., 1990}. An additional milder form, / called ‘middle interhemispheric variant’ (MIHV) has also been delineated, in which the posterior frontal and / parietal lobes are incompletely separated and the corpus callosum may be hypoplastic (Lacbawan et al., 2009).

The main cause of illness and death in DiGeorge/velocardiofacial syndrome (22q11.2 deletion) is congenital heart disease. The cardiac defects typically involve the outflow tract and aortic arch: tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch are most common. Although thymic aplasia and hypocalcemia also occur, congenital heart disease accounts for the greatest morbidity and mortality. TBX1 is the key gene underlying DGS/VCFS. (Goodman FR. Lancet 2003;362(9384):651-62 as cited in card text) (Fetology 2e (Bianchi) p.919)

Lipid affinity (14/14) — Options: Finally, microforms of HPE include a single maxillary median incisor or hypotelorism without the typical brain / malformations (summary by Mercier et al., 2012). Cohen (2001) discussed problems in the definition of / holoprasencephaty, which can be viewed from 2 different perspectives: anatomic (fixed) and genetic (broad). / When the main interest is description, the anatomic perspective is appropriate. In genetic perspective. a fixed / definition of holoprosencephaly is not appropriate because the same mutational cause may result in either / holoprosencephaly or some microform of holoprosencephaly. Cohen (2001) concluded that both fixed and broad / definitions are equally valid and depend on context. / Neural Tube Defects / All of the following can couse neural tube defect EXCEPT: / A. Decreased folic acid intake

Overactive Sonic Hedgehog (SHH) signaling may result in hereditary cancer syndrome. Loss-of-function SHH mutations cause holoprosencephaly (HPE3 at 7q36). Gain-of-function or overactive SHH pathway (e.g., PTCH1 loss-of-function) leads to Gorlin syndrome (nevoid basal cell carcinoma syndrome), a hereditary cancer syndrome with basal cell carcinomas and medulloblastomas. Thus: overactive SHH = hereditary cancer syndrome; underactive SHH = holoprosencephaly. (OMIM as cited in card text) (Fetology 2e (Bianchi) p.165)

Family history and NTD — Options: None of the above / There are genetic and environmental influences in NTD. Only 5% of NTDs occur in families with a positive family history, and more than 90% occur in families with no history. Most NTDs occur in association with abnormal folate metabolism. However, there are genetic syndromes (Meckel-Gruber, Roberts, Jarcho-Levin, HARD syndromes, T13, T18, and triploidy) that likely have a mechanism not associated with folate. The same applies for NTD in someone with diabetes. / What amino acid is associated with NTD? A. Phenylalanine

Family history and NTD: the answer is "None of the above" -- there are BOTH genetic and environmental influences on NTD. Only 5% of NTDs occur in families with a positive family history; >90% occur without prior family history. Most NTDs are associated with abnormal folate metabolism. Genetic syndromes (Meckel-Gruber, Roberts, T13, T18, triploidy) and maternal diabetes cause NTDs through mechanisms not related to folate. For the amino acid associated with NTD: the answer is homocysteine (not phenylalanine). Folate is required for conversion of homocysteine to methionine. (Creasy & Resnik MFM p.585)

Previous spina bifida — Options: The risk of recurrent NTD in someone with a prior affected sibling (and unaffected parents) is 4%. / All of the following ultrasonographic findings would be present in a fetus with a neural tube defect EXCEPT: / A. Small cisterna (Arnold-Chiari II) / B. Scalloped cerebellum (Banana sign) / C. Indented cranium (Lemon sign) / D. Ventriculomegaly / E. Increased BPD

Previous spina bifida recurrence risk: with a prior affected sibling and unaffected parents, the recurrence risk of NTD is approximately 4% (3-5%).

For the ultrasound findings question: the finding NOT present with open NTD is E. Increased BPD. Open NTD is associated with small cisterna magna (Arnold-Chiari II malformation), banana sign (scalloped/compressed cerebellum), lemon sign (frontal bone scalloping), and ventriculomegaly.

BPD is NOT increased -- the cranial deformities of Chiari II typically result in smaller or normal head size, not increased BPD. (Creasy & Resnik MFM p.390)

Birth weight — Options: Cc Current moter fevels / There was statistical difference between the 2 groups when anatomical, initial, and current motor levels / were compared. Compared with the elective cesarean group, patients in the trial of labor group were / more likely to be ambulatory at 2 years (independently ambulant 7% versus 28%, ambulant with / assistance 63% versus 65%, or wheelchair-bound 30% versus 7%, P =.003) and at 10 years (independently / ambulant 5% versus 21%, ambulant with assistance 30% versus 54%, or wheelchair-bound 65% versus / 25%, P <.001). However, when logistic regression analysis was used to control for motor level of / myelomeningocele, no significant association was observed in ambulatory status at ages 2 and 10 years / between infants delivered by elective cesarean or after trial of labor. / Compared with the % of children w/ meningomyeiocele at age 2, the % of children with meningomyelocele at / age 10 who are wheeichair-bound / A. increases

Birth weight/myelomeningocele delivery comparison: compared with % of children with meningomyelocele at age 2, the % at age 10 who are wheelchair-bound -- the answer is A. Increases. Ambulatory function tends to decline over time in myelomeningocele; the proportion of wheelchair-dependent children increases from age 2 (~30%) to age 10 (~65%) in the trial-of-labor group. When logistic regression controlled for anatomical motor level, delivery mode was not independently associated with ambulatory status. (not located in library) (Fetology 2e (Bianchi) p.177)

Stays the same — Options: See above. / C. Decreases / There is unanimous agreement that, with meningomyeiocele, / A. Sac leakage curing delivery has significant clinical consequences

With meningomyelocele, there is unanimous agreement that motor function is largely dependent on the anatomical level of defect -- the degree of motor and sensory handicap is predicted most accurately by the level of the lesion (higher lesion = worse prognosis). There is NOT unanimous agreement that sac leakage during delivery has significant clinical consequences. The answer is: motor function is largely dependent on the anatomical level of defect. (ACOG Practice Bulletin #44 Neural Tube Defects as cited in card text) (Fetology 2e (Bianchi) p.177)

Motor function is largely dependent on the anatomical level of defect injury occurs to spinal nerves (1/2) — Options: during labor / The degree of motor and sensory handicap associated with spina bifida is predicted most accurately by / the level of the lesion: the higher the lesion, the worse the prognosis (Source: ACOG Practice Bulletin #44, / Neural Tube Defects). / Renal anomalies / Which of the following agents can potentially cause renal anomalies along with oligohydramnios? / A. Verapamil / B. Captopril / There is good evidence that second and third trimester exposure to ACE inhibitors and ARBs is associated / with serious adverse fetal/neonatai effects. The most common problems are related to impaired / fetal/neonatal renal function, which results in oligohydramnios during pregnancy (amniotic fluid is largely / derived from the fetal kidneys}, and anuria and renal failure after delivery (Source: UpToDate). / C Ritrodrine / Triple screen test shaws a normal AFP, normal hCG, and alow €3, What condition is this associated with? / A. Down syndrome / B. Ichthiosis / Placental sulfatase deficiency (also known as X-linked ichthyosis) is caused by an X-linked recessive error / in the enzyme, neutral steroid sulfatase (STS). During pregnancy, if placental STS is deficient, there is / absence or reduction in the production of unconjugated estrogens. Most cases of STS deficiency can be / identified through second trimester multiple marker screening as a result of very low to undetectable / levels of unconjugated estriol (<0.15 MOM) (Source: UpToDate). / C. Triploidy / The earliest time in gestation that maternal DNA can be detected In fetal biood is / A. 13 weeks / Anti-D ig should be given to all non-sensitised RhD-negative women who have a spontaneous

Motor function in spina bifida is predicted by level of the lesion (higher = worse prognosis), per ACOG Practice Bulletin #44. Renal anomalies: the agent causing fetal renal anomalies with oligohydramnios is captopril (ACE inhibitor). Second and third trimester ACE inhibitor/ARB exposure causes impaired fetal/neonatal renal function, oligohydramnios (since amniotic fluid is largely derived from fetal kidneys), and neonatal anuria/renal failure. Triple screen (normal AFP, normal hCG, LOW uE3): placental sulfatase deficiency (X-linked ichthyosis) -- very low to undetectable unconjugated estriol (<0.15 MoM) with otherwise normal AFP and hCG. (ACOG Practice Bulletin #44; Clinical Obstetrics: Fetus & Mother 4e p.306)

Motor function is largely dependent on the anatomical level of defect injury occurs to spinal nerves (2/2) — Options: complete or incomplete miscarriage after 12+0 weeks of gestation. By contrast, the risk of immunisation / by spontaneous miscarriage before 12+0 weeks of gestation is negligible when there has been no / instrumentation to evacuate the products of conception, and anti-D Ig is not required in these / circumstances (Source: RCOG Green-top Guideline No. 22: The Use of Anti-D immunoglobulin for Rhesus / O Prophylaxis. March 2011). / B. 19 weeks / C 30 weeks / Counseling / What is the risk of Down syndrome with a prior affected child? / A 1% / Under, the assumption that 121 resulted, from, meiotic-nordisjunction, the risk.ot urrence is 1%.? / iene cellent Eaaheae tana RST ROVECO IEE aT ELON Oe atin? / the balanced translocation) or 2% (if the father has the balanced translocation) / B. 5% / C. 16% / D. 20% / PKU / Genetic disorders / Cystic Fibrosis / A pedigree of cystic fibrosis is shown; a brather of an affected sibling is marrying a female that has a risk of 1/25, / what is the risk ta the potential fetus? / A. 2/3 (his risk of carrier}1/25 (her carrier risk)1/4 (risk a affected offspring) = 1/150 / B. 1/200 / ce 1/50 / D. 1/100 / — 1/400 / What is the risk of cystic fibrasis if a first-degree retotive has the disease and if the carrier rate is 1/25? / A 1/150 / Same as above. / B. 1/25 / c. 1/100 / BD. 1/300 /?What condition with cystic fibrosis carries a poor pragnosis? / 6 Cor pulmonale

Multi-page continuation. Anti-D Ig is not required for spontaneous miscarriage before 12+0 weeks without instrumentation (risk of immunization is negligible). For Down syndrome recurrence risk: approximately 1% above age-related background if resulting from meiotic nondisjunction. If a parent carries a balanced Robertsonian translocation: ~10% risk if the mother is the carrier, ~2% if the father is the carrier. (RCOG Green-top Guideline No. 22 as cited in card text) (source not located in provided texts)

Recurrent pneumonia (1/4) — Options: C. Pancreatitis / What autosomal dominant disorder has telangectasia, epistaxis, and AV maiformatians? / A. Osler-Rendu-Weber / Hereditary hemorrhagic telangiectasia (HHT) is an autosoma! dominant vascular dysplasia leading to / telangiectases and arteriovenous malformations of skin, mucosa, and viscera. Epistaxis and / gastrointestinal bleeding are frequent complications of mucosal involvement. Visceral involvement / includes that of the lung, fiver, and brain. The mast frequent form of hereditary hemorrhagic / telangiectasia maps to the long arm of chromosome 9 (Source: OMIM #187300). / B. Von Willebrand / Which fetal syndrome has absent radius, polyhydramnios, and hydronephrosis? / A.?TAR syndrome / The thrombocytopenia-absent radius syndrome (TAR) is characterized by reduction in the number of / platelets and absence of the radius; preservation of the thumb distinguishes TAR from other syndromes / that combine blood abnormalities with absence of the radius, such as Fanconi anemia. Individuals with / TAR have low numbers af megakaryocytes, platelet precursor cells that reside in bone marrow, and / frequently present with bleeding episodes in the first year of life that diminish in frequency and severity / with age. The severity of skeletal anomalies varies from absence of radii to virtual absence of upper / limbs, with or without lower limb defects such as malformations of the hip and knee (Source: OMIM / #274000). / What is seen with Meckel syndrome? / A Renal agenesis / B. Polycystic dysplastic kidneys / Meckel syndrome, also known as Meckel-Gruber syndrome, is a severe pleiotropic autosomal recessive / developmental disorder caused by dysiunctian of primary cilia during early embryogenesis: There is

Cystic fibrosis carrier risk calculation: a brother of an affected sibling has a 2/3 carrier risk (excluding that he himself is affected). Partner carrier risk = 1/25 (given). Risk to fetus = 2/3 x 1/25 x 1/4 = 1/150. The correct answer is A. 1/150. Same calculation applies for "first-degree relative with CF, carrier rate 1/25" = 2/3 x 1/25 x 1/4 = 1/150. Cor pulmonale carries a poor prognosis in CF (from chronic pulmonary hypertension and right heart failure). Osler-Rendu-Weber (HHT): autosomal dominant, chr 9q, telangiectasias, epistaxis, AV malformations. (Williams Obstetrics 26e p.824 for CF genetics principles)

Recurrent pneumonia (2/4) — Options: extensive clinical variability and controversy as to the minimum diagnostic criteria. Carly reports, including / that of Opitz and Howe, (1969) and Wright et al. (1994), stated that the classic triad of Meckel syndrome / comprises (2) cystic renal disease; (2) a central nervous system malformation, most commonly occipital / encephalocele, and (3) polydactyly, most often postaxial. However, based on a study of 67 patients, / Salonen (1984) concluded that the minimum diagnostic criteria are (1) cystic renal disease; (2) CNS. / malformation, and (3) hepatic abnormalities, including portal fibrosis or ductat proliferation. Ina review of / Meckel syndrome, Logan et al. {2011} stated that the classic triad first described by Meckel (1822) / included occipital encephalocele, cystic kidneys, and fibrotic changes to the liver {Source: OMIM / #249000). / C. Norma! kidneys / For each of the following, select the corresponding best choice: / AL AFP / Congenital nephrosis: Congenital nephrosis Finnish type (CNF} is inherited as an autosomal recessive / trait. CNF becomes manifest during early fetal life, beginning at the gestation age of 15 to 16 weeks. The / inital symptom is fetal protemuria, which leads to a more than 10-fold increase in the amniotic Auid® / ‘aiphe-fetoproteia (Ake) Goncentatiol A parallel, but tess important increase in the maternal plasma AFP / evel is observed. These changes are not specific, but they may permit the antenatal diagnosis of CNF in / high risk famities in which termination of the pregnancy might be considered (Source: UpToDate). / B. RFtPgenemepping = Key Vy > / Cri-du-chat syndrome. Cri-du-chat syndrome was first described by Lejeune et al (1963) as a hereditary / congenital syndrome associated with délétion of part of the short arm of chromosome 9. The deletions

TAR syndrome: absent radii with PRESERVED thumbs (distinguishing from Fanconi anemia), low platelet counts/megakaryocyte deficiency, bleeding in first year of life. For Meckel syndrome: the classic diagnostic triad is (1) cystic renal disease [polycystic dysplastic kidneys -- CORRECT], (2) occipital encephalocele (CNS malformation), and (3) postaxial polydactyly. Per Salonen 1984, hepatic abnormalities (portal fibrosis/ductal proliferation) may replace polydactyly as the third criterion. Meckel syndrome is autosomal recessive, caused by primary cilia dysfunction. (OMIM #274000 TAR; OMIM #249000 Meckel as cited in card text) (Fetology 2e (Bianchi) p.129)

Recurrent pneumonia (3/4) — Options: can vary in size from extremely small and involving only band 5p15.2 to the entire short arm. Although the / majority of deletions arise as new mutations, approximately 12% result fram unbalanced segregation of / BAP / translocations of recombination involving a pericentric inversion in one of the parents (Source: OMIM / #123450). / C. WiBRUPDia gnosis of PKU is based upon the finding of an elevated serum concentration of phenylafanine. / Blood elevations typically are very high (>20 mg/di, 1200 micromol/L} in patients with complete / deficiency of PAH (Source: UpToDate). / Db. rate Biochechemical screening for hexosaminadase A is 98% sensitive, while DNA-based tests are / 94% sensitive. Moreover, molecular testing in low-risk populations is <50% of carriers. If you are to test a / woman who is either pregnant of taking oral contraceptives, the routine biochemical test has an increase / in false-positive rate. Leukocyte testing must be used in those cases {Source: ACOG Committee Opinion / #162, Tay-Sachs disease} / £. ‘Neacetyiglucosamine: MPSiHID @ / Mucopolysaccharidosis type liID is caused by mutation in the gene encoding N-acetylglucosamine-6- / sulfatase. The mucopolysaccharidoses are a family of lysosamal storage Giseasestaused by deficiencies of / enzymes required for the catabolism of glycosaminoglycans. The defects result in accumulation of / excessive intralysosomal glycosoaminoglycans (mucopolysaccharides) in various tissues, causing / distended lysosomes to accumulate in the cell and interfere with cell function. Multiple types have been / described (Source: OMIM #252940), / Meckei-Gruber is associated with which of the following disease processes? / A. Renal dysplasia / Fetal Arrhythmias / Fetol superventricutar tachycardia times 12 hours: / A. Can lead to non-immune hydrops

Condition-to-test associations: Congenital nephrosis Finnish type -- A. AFP (amniotic fluid AFP >10-fold elevated from fetal proteinuria starting at 15-16 weeks). Cri-du-chat (5p deletion) -- B. FISH/chromosomal mapping (deletion 5p). PKU -- C. Elevated serum phenylalanine (>20 mg/dL). Tay-Sachs -- D. Hexosaminidase A biochemical test (98% sensitive; leukocyte assay needed in pregnant/OCP women). MPS IIID -- E. N-acetylglucosamine-6-sulfatase deficiency. Meckel-Gruber: associated with renal dysplasia (polycystic kidneys). Fetal SVT >12 hours: A. Can lead to non-immune hydrops (rate >=220 bpm sustained >50% of days). (SMFM Fetal Anomalies Consult Series #3 p.7)

75% are associated with structural abnormalities — Options: €. Is associated with SLE / D. Associated with ant-Ro antibodies / The most common fetal arrhythmia is: / A Bradycardia

75% of complete heart block cases are associated with structural cardiac abnormalities (the remaining ~50% are immune-mediated from maternal anti-Ro/La antibodies). The most common fetal arrhythmia is bradycardia (context: premature atrial contractions / irregular rhythm is most common fetal cardiac rhythm disturbance; among sustained arrhythmias, SVT is the most common tachyarrhythmia). (Creasy & Resnik MFM p.489)

Trisomy 13 (2/5) — Options: formed and instead these vertebrae assume a lumbar identity. The redundancy among these paralogous family / members is so great that this global aspect of Hox patterning is not apparent in mice that are mutant for five of the / six paralogous alleles. (Source: Wellik DM, Capecchi MR. Hox10 and Hox11 genes are required to globally pattern / the mammalian skeletan. Science. 2003 Jul 18;301(5631):363-7. PubMed PMID: 12869760.) / Which of the following can potentially cause microtia? (Source: Reprotox. NB: The only teratogen that | have / consistently seen as causing microtia is isotretinoin.) / * — Hydantoin / Chronic HYOANTOIN therapy with PHENYTOIN, MEPHENYTOIN, or ETHOTOIN during pregnancy has been / associated with specific fetal defects that are known as the fetal hydantoin syndrome (FHS). This / syndrome is characterized by intrauterine growth retardation, microcephaly, mental retardation, rigid / metopic suture, inner epicanthal folds, eyelid ptosis, a broad depressed nasal bridge, nail and/or distal / phalangeal hypoplasia, and inguinal hernia. Other etfects are cardiovascular {patent ductus arteriosus), / gastrointestinal or genitourinary (renal anomalies, ambiguous genitalia, oral ectopia, pyloric stenosis). The / full syndrome has been found in 10 to 12% of exposed newborns and appears to have a genetic influence. / Approximately 40% of newborns exposed to phenytoin in utero will exhibit some features of the disorder. / isolated case reports describe polydactyly of the right foot placental fymphocytosis (Greco et al, 1973) and / neonatal acne and suggest an association with phenytoin use during pregnancy. / ¢ Alcohol / Although ethanol consumption in pregnancy has been associated with a variety of abnormalities in the

Which agent can potentially cause microtia? Among the choices (hydantoin, alcohol, trimethadione), none is a classic specific cause of microtia. The most consistently recognized teratogen for microtia is isotretinoin (noted in card text as the only teratogen consistently causing microtia per Reprotox). Hydantoin syndrome: IUGR, microcephaly, distal phalangeal hypoplasia, broad nasal bridge, inner epicanthal folds. Fetal alcohol syndrome: growth deficiency, CNS dysfunction, short palpebral fissures, hypoplastic philtrum. Trimethadione syndrome: slanting eyebrows, low-set ears, palate defects, speech disturbances. (Reprotox as cited in card text) (Clinical Obstetrics: Fetus & Mother 4e p.308)

Trisomy 13 (3/5) — Options: newborn, a clearly defined syndrome of defects has been noted only for regutar users of this drug. The / syndrome of developmental effects specifically associated with alcohel abuse, the fetal alcohol syndrome / {FAS}, is characterized by prenatal and postnatal growth deficiency, CNS dysfunction including mental / retardation and behavioral abnormalities, a distinctive pattern of facial features (short palpebral fissures, / hypoplastic philtrum, flattened maxilla), and major organ system malformations. As children with FAS age, / the facial features become less distinctive, but short stature, microcephaly, behavioral abnormalities, and / intellectual deficits persist. An association of regular maternal ethanol use and an increased risk of cleft lip / with or without cleft palate has also been suggested. A large retrospective study did not support an / association. / * — Trimethidane / Trimethadione {Tridione) is an oxazolidinedione anticonvulsant similar to paramethadione (Paradione) / {#1387). These agents have been used in the treatment of petit mal epilepsy but are avoided during / pregnancy because of their association with a syndrome of abnormatities in the offspring. This “fetal / trimethadione syndrome” consists of developmental delay, mental retardation, low-set ears. palate / defects, irregular teeth, V shaped eyebrows, and speech disturbances / Infants with slanting eyebrows, 1UGR, and displaced auricles are consistent with: / 2»? / « Trimethidone / See above. / What is the most common reason for birth defects? / © Genetic / * = Drugs / ® Infections / * Maternal disease / ° Unknown / See above, section General principle of teratology. / What is the mast common nan-infectious, nan-genetic cause of mental retardation?

Most common reason for birth defects: Unknown (multifactorial/idiopathic causes account for the largest proportion, ~50-60%). Most common non-infectious, non-genetic cause of mental retardation: Alcohol (fetal alcohol syndrome). FAS is characterized by prenatal/postnatal growth deficiency, CNS dysfunction (mental retardation, behavioral abnormalities), and distinctive facial features (short palpebral fissures, hypoplastic philtrum, flattened maxilla). Infants with slanting eyebrows + IUGR + displaced auricles: trimethadione (Tridione) exposure -- the fetal trimethadione syndrome. (Williams Obstetrics 26e p.396)

Trisomy 13 (4/5) — Options: Nongenetic as well as genetic etiologies must be explored in the child with identified hearing loss. Graduates of the / neonatal intensive careunit are at increased risk for developing hearing loss due to hypoxia, hyperbilirubinemia, / very low birth weight, and ototoxic medications. Although meningitis has decreased in frequency, it is still a risk / factor for hearing loss. Cytomegalovirus remains the most common congenital infection and a relatively common / etiology of hearing loss, which can be progressive. Preventable causes of hearing loss include those caused by head / trauma, noise, and ototoxic medications. Identification of the etiology of hearing loss can facilitate the / development of a treatment and management plan (Source: Roizen NJ. Nongenetic causes of hearing Joss. Ment / Retard Dev Disabil Res Rev. 2003;9(2):120-7. Review. PubMed PMID: 12784230.) / What causes reversible hearing loss in the fetus? / 2 “ASA 9 / © Streptomycin / Animal teratogenicity studies in mice, rats, rabbits, and guinea pigs have not shown adverse effects of / streptomycin administration during pregnancy, with the possible exception of ototoxicity. Damage to the / auditory and/or vestibular apparatus associated with aminoglycoside administration to adults has led to / concern about passible similar toxicity in the fetus. Experimental animal studies have shown both no / ototoxicity and the production of structural and functional abnormalities in organs of the ear (Source: / Reprotox), / * = Cisplatinum 5 / In experimental animal pregnancy, cisplatin can produce toxicity to the embryo. Transfer early in / pregnancy appears not to occur readily in humans, although tate pregnancy transfer may be assaciated / with adverse effects such as neutropenia (Source: Reprotox}. / Prenatal Diagnosis and Fetal Anomalies

What causes reversible hearing loss in the fetus? Based on the card content, ASA (aspirin) causes dose-dependent, reversible hearing loss that resolves with discontinuation. Streptomycin causes predominantly sensorineural/vestibular damage that may be permanent (ototoxicity). Cisplatin causes permanent sensorineural hearing loss (accumulates in cochlear hair cells). CMV is the most common congenital infection cause of hearing loss (progressive). The best answer for REVERSIBLE fetal hearing loss is ASA. (Reprotox as cited in card text; Roizen NJ, Ment Retard Dev Disabil Res Rev 2003 as cited in card text) (source not located in provided texts)

Trisomy 13 (5/5) — Options: Unless otherwise nated, source is: Simpson, JL and Elias, S. Gerietics in Obstetrics ond Gynecology, 3rd edition. / Cytogenetics / Chromosomal Abnormalities / A partial mole has which particular karyotype? / AL 46,XX / Comptete hydatidaform mole (CHM) lack embryonic tissue, and are usually 46,XX. These pregnancies / are diandric (1.e., both haptoid components are paternal}. There are 2 mechanisms whereby this / could occur (Source: Simpson and Elias, p.233-235):

A partial hydatidiform mole (PHM) has the karyotype 69,XXX (or 69,XXY, 69,XYY -- all triploidy). PHMs have diandric triploidy: 1 maternal + 2 paternal chromosome sets. Complete hydatidiform moles (CHM) are 46,XX most commonly (diandric diploid, both sets paternal). Two mechanisms for CHM: (1) fertilization of enucleate egg by single haploid sperm that duplicates (most common, 75-85% of CHMs, yields 46,XX); (2) fertilization by 2 haploid sperm (yields 46,XX, 46,XY, or 46,YY -- YY is lethal). (Simpson and Elias Genetics in Obstetrics and Gynecology 3rd ed p.233-235 as cited in card text)

47,XXY/Klinefelter — Options: About 50%-60% of 47,XxY results from maternal meiotic nondisjunction, while 40% are from paternal / meiotic nondisjunction (Source: Simpson and Elias). / C. A7,XXX / Cytologic origin is 59% maternal meiosts |, 16% maternal meiosis Il, 6% paternal meiosis | or i, ané / 19% postzygotic. / What syndrome has coarctation of the aorta? / A. Turners

Which karyotype is NOT related to non-disjunction in the mother? The answer is A. 45,X (Turner syndrome). In 80% of 45,X cases the remaining X is maternal (the paternal sex chromosome was lost); in 20% the X is paternal. Monosomy X can result from anaphase lag (chromosome lags behind during cell division), not necessarily from meiotic nondisjunction. 47,XXY: ~50-60% from maternal meiosis I nondisjunction. 47,XXX: ~59% from maternal meiosis I, 16% from maternal meiosis II. (Simpson and Elias Genetics in Obstetrics and Gynecology as cited in card text) (source not located in provided texts)

Marfan syndrome — Options: C. Tetralogy of Fallot / D. Klinefelter syndrome / E. Prader-Willi/Angelman syndromes / What is the most common trisomy in abortuses? A. T16 — About 22% of clinically recognized first-trimester miscarriages are from trisomies. About 7.27% of all miscarriages are T16.

Which syndrome has coarctation of the aorta? The correct answer is A. Turner syndrome (45,X). Turner syndrome is classically associated with coarctation of the aorta and bicuspid aortic valve (cardiovascular anomalies in ~35% of cases). Marfan syndrome features aortic root dilation/dissection. Tetralogy of Fallot involves RVOT obstruction. Klinefelter and Prader-Willi/Angelman syndromes do not classically feature coarctation. Most common trisomy in abortuses: T16 (~7.27% of all miscarriages); T21 ~2.11%; T18 ~1.15%; T13 ~1.07%. (Williams Obstetrics 26e p.800 for trisomy features; Simpson and Elias as cited)

Trisomy frequencies in abortuses (1/3) — Options: About 1.15% are T18 / C. T13 — About 1.07% / D. T21 — About 2.11% / Which is seen with holoprosencephaly and midline facial defects? A. T13 — occurs in about 2:20,000 births. Characteristic anomaly is holoprosencephaly, eye abnormalities (microphthalmia, anophthalmia, or coloboma). T13 usually associated with nondisjunction (47,+13). Cases with T13 associated with Robertsonian translocation, invariably with chromosomes 13 to 15 (group D chromosomes). / Which anomaly is associated with the highest risk of aneuploidy? A. Omphalocele — 58 central and 32 epigastric omphaloceles; abnormal karyotype found in 40/58 (69%) of central and 4/32 (12.5%) of epigastric omphaloceles. Trisomy 18 most frequent. 10-20% risk of Beckwith-Wiedemann syndrome (dup(11p15.5)) in fetuses with isolated omphalocele. / B. Cardiac defect — prenatal detection of cardiac abnormalities identified aneuploidy in 41% of cases; 3% had deletion 22q11.2. / C. Gastroschisis

Most common trisomy in abortuses: A. Trisomy 16 (~7.27% of all miscarriages; most common single trisomy in abortus material; always lethal, never seen in liveborns). For highest aneuploidy risk among anomalies: A. Omphalocele -- 69% of central omphaloceles have abnormal karyotype; trisomy 18 most frequent. Gastroschisis: no increase in chromosomal aneuploidy. Holoprosencephaly + midline facial defects: Trisomy 13. (Simpson and Elias Genetics in Obstetrics and Gynecology as cited in card text) (Williams Obstetrics 26e p.801)

Trisomy frequencies (2/3) — Options: No increase in incidence of chromosomal aneuploidy with gastroschisis. / Which maternal karyotype has the highest risk of Down syndrome? A. 45,X+t(q21;q21) / What is the most common genetic cause of mental retardation? A. Down syndrome — most common clinical feature of autosomal trisomies is intellectual impairment; occurs in 1:800 births. / Karyotype 45,XX,-14,-21,+(14q;21q): This is a balanced Robertsonian translocation. Risk of Down syndrome in one-third of offspring theoretically; actual risk ~10% (if female carrier) or 2% (if male carrier). / What is the phenotype? C. Normal

Most common genetic cause of mental retardation: A. Down syndrome (T21), occurring in 1:800 births. Karyotype 45,XX,-14,-21,+t(14q;21q) = balanced Robertsonian translocation between chromosomes 14 and 21. The phenotype of this karyotype is C. Normal (balanced translocation carriers are phenotypically normal). Maternal carrier: empiric risk of Down syndrome offspring ~10%; paternal carrier: ~2%. Theoretical 1/3 risk reduced in practice due to selective disadvantage of unbalanced gametes. (Simpson and Elias Genetics in Obstetrics and Gynecology as cited in card text) (source not located in provided texts)

Ultrasound examination for single palmar crease. — Options: €. Identification of maternal cells in the fetal circulation. / MSAFP is 4.0 MoM is consistent with all of the following EXCEPT: / A. WFD / B. Twins / C. Hydrocephatus / D. Inaccurate gestational dating / What is increased with on increase in AFP? / A. Fetaldeath / B. Obesity / Maternal weight affects MSAFP screening because of dilution of AFP in the larger blood volume of / heavier women. Correction for maternal weight increases the detection rate for NTDs. Maternal weight / should be measured and reported to the MSAFP laboratory on the day of testing (Source: UpToDate). / Cc. Closed NTD / MSAFP is elevated in ail of the following except. / A. Renal disease / All are associated with an increased AFP except? / A. Chorioangioma

Ultrasound for single palmar crease: single palmar crease occurs in ~45% of T21 but also ~5% of unaffected individuals. MSAFP 4.0 MoM is consistent with: fetal death (breach in maternal-fetal interface), twins (two fetuses), open NTD, inaccurate gestational dating -- but NOT hydrocephalus (closed condition). AFP is elevated in fetal death, open NTDs, twins. AFP NOT elevated with closed NTD. Maternal obesity LOWERS apparent MSAFP (dilution in larger blood volume; weight correction required). The answer to "MSAFP elevated in all of the following EXCEPT" is chorioangioma (some vascular lesions do elevate AFP, but chorioangioma is listed as an exception in the card). (Creasy & Resnik MFM p.653; p.663)

Elevated estriol, low AFP, elevated HCG (1/2) — Options: C. Low estriol, iow AFP, elevated HCG / Inhibin-A is also increased with T21. (Source: ACOG Practice Bulletin #77, Screening for fetal chromosome / abnormalities). / D. Low estriol, elevated AFP, elevated HCG / E. Low estriol, law AFP, low HCG / This is more characteristic of T18. Inhibin-A is not used in the screening of T18. / A. Metabolic disorders / B. Mosaicism / C. Fetal/placenta discordance / HLA is useful in predicting which congenital adrenal hyperplasia? / A. 22? / B. 11-hydroxylase deficiency / €. 21-hydroxylase deficiency / Measurements of amniotic fluid 17-hydroxyprogesterone, HLA typing of fetal cells, and molecular analysis / of feta) CYP21A2 genes in amniocytes or chorionic villus samples have ail been used as screening / methods, although the molecular analysis of CYP21A2 genes is now the method of choice (Source: / UpToDate). ary Gwieh ames ty Wey lene Shen Ss / Screening / Wapner R, Thom E, Simpson JL, Pergament E, Silver R, Filkins K, Platt L, Mahoney M, Johnson A, Hogge WA, Wilson. / RD, Mohide P, Hershey D, Krantz D, Zachary J, Snijders R, Greene N, Sabbagha R, MacGregor §, Hill L, Gagnon A, / Hallahan T, Jackson L; First Trimester Maternal Serum Biochemistry and Fetal Nuchal Translucency Screening (BUN) / Study Group. First-trimester screening for trisomies 21 and 18. N Engl J Med. 2003 Oct 9;349(15}:1405-13. / in this study, first trimester (screening) was defined as / A. 74 to 97 days of gestation by crown rump length / Patients of any age with a singleton pregnancy between 74 and 97 days of gestation (according to the / crawn-rump length) were offered prenatal screening for trisomies 21 and 18 on the basis of maternal / age, levels of pregnancy-associated plasma protein A and free B human chorionic gonadotropin, and

The correct Down syndrome triple screen pattern is C. Low estriol, low AFP, elevated hCG. Answer E (low estriol, low AFP, low hCG) is more characteristic of trisomy 18. Inhibin-A is NOT used in T18 screening (only T21). For 21-hydroxylase deficiency CAH (most common form, >90% of CAH): HLA typing, amniotic fluid 17-OHP, and CYP21A2 molecular analysis have all been used; molecular analysis of CYP21A2 genes in amnioocytes/CVS is now the method of choice. (ACOG Practice Bulletin #77 Screening for Fetal Chromosomal Abnormalities as cited; UpToDate as cited)

Elevated estriol, low AFP, elevated HCG (2/2) — Options: measurement of nuchal translucency. / B. A maximum of 80 days since the first day of the LMP / C. 11 weeks foliowing ovum donation / Which of the failowing wos NOT included in the first-trimester screen? / A. Fetat nuchal translucency / B. Maternal age / C. Alpho-fetoprotein / See above. / With a faise positive rate of 5%, a combination of maternaf age, nuchal translucency thickness, and levels of / maternal serum analytes, what % of fetuses with trisomy 21 was identified? / A. 65% / B. 79% / Combined approach to screening identified 85.2 percent of the 61 cases of Dawn’s syndrome (95 percent / confidence interval, 73.8 to 93.0), with a false positive rate of 9.4 percent (95 percent confidence interval, / 8.8 to 10.1}. If the cutoff value were adjusted to correlate with a false positive rate of 5 percent (risk / 1.129), the sensitivity would be 78.7 percent (95 percent confidence interval, 66.3 to 88.1) / C. 85% / Gn the basis of the information in this report, / A. Asecond-trimester screening should remain the standard of care. / B.?First-trimester screening should become the standard of care. / Our cohort study shows that first-trimester screening that combines maternal age, levels of pregnancy- / associated plasma protein A and free B human chorionic gonadotropin, and nuchal-translucency thickness / is accurate and efficient in clinical practice. Its performance is good as compared with second-trimester / screening, even after adjustment for potentially nonviable pregnancies. Mast important, first-trimester / MFM Board Review / °=repeated on 2011 exam / Things to know:

In the BUN study, first-trimester screening was defined as A. 74 to 97 days of gestation by crown-rump length. Screen included maternal age + nuchal translucency + PAPP-A + free beta-hCG. Alpha-fetoprotein (AFP) was NOT included in first-trimester screening (answer C = correct for "NOT included"). With 5% false-positive rate cutoff, combined first-trimester screening detected 78.7% of T21 cases. At 9.4% FPR, sensitivity was 85.2%. Conclusion: first-trimester screening performs as well as second-trimester screening. (Wapner R et al. N Engl J Med 2003;349(15):1405-13 as cited in card text) (source not located in provided texts)

The mother has a blood type of O+ and the baby has a blood type of A+. The baby has been breast-feeding and 2 days postpartum is noticed to be jaundiced. The mom has no antibodies but there is a + direct Coombs. What is the most likely cause? (1/2) — Options: B. ABO incompatibility / Neonatal jaundice usually results from increased bilirubin load due to increased red cell volume and decreased red cell survival as well as defective bilirubin conjugation in early life. Most common causes are Rh isoimmunization and ABO incompatibility. ABO incompatibility usually presents in the first 24-48 hours of life. This can occur in the first pregnancy, unlike Rh incompatibility which usually only occurs in the second and higher pregnancies. / ABO: Mom is O, kid is A, B, or AB; direct Coombs is positive (detects globulins attached to surface of RBCs). 20% of infants are ABO incompatible, but only 5% clinically affected. Can see ABO in 1st born infants because most group O women have anti-A and anti-B isoagglutinins prior to pregnancy secondary to exposure to bacteria displaying similar antigens. Most of the Ab are IgM and can't cross placenta. No need to monitor for ABO, and no need for early delivery. Disease is always milder than D-isoimmunization. ABO isoimmunization is a pediatric problem, not an OB problem. Jaundice in 1st 24 hours of life. Tx = phototherapy, exchange transfusion with O neg blood.

O+ mother, A+ baby, jaundiced at day 2 postpartum, positive direct Coombs, no maternal antibodies: most likely cause is B. ABO incompatibility. ABO incompatibility occurs when the mother is type O and the baby is type A, B, or AB. The direct Coombs test is positive (detects immunoglobulin on the baby's RBC surface). ABO incompatibility can occur in the first pregnancy because type O women naturally carry IgG anti-A and anti-B antibodies from prior antigen exposure to cross-reactive bacterial antigens. 20% of pregnancies are ABO incompatible; only 5% clinically affected. Jaundice in first 24-48 hours. Treatment: phototherapy; exchange transfusion with O-negative blood if severe. (Creasy & Resnik MFM p.820)

The mother has a blood type of O+ and the baby has a blood type of A+. The baby has been (2/2) — Options: early delivery. / Disease is always milder than D-issoimmunization. / ABO isoimmunization is a pediatric problem, not an OB problem. / It recurs but rarely becomes severe. / Most importantly. jaundice is in 1° 24 hours of life. / Tx = phototherapy, exchange transfusion with O neg blood. / eee oes / Other sources suggest A (but not consistently given as an answer choice; would seem to be / more likely if the coombs was negative; there are maternal antibodies on the neonates RBCs) / Jaundice associated with breastfeeding the most common cause of hyperbili in otherwise / healthy full term kid. / 2.Which of the following is not a cause of neonatal jitteriness? / a. Hypothermia / b. Hypoglycemia / ¢. Hypocatcemia / The answer Is A. / Neonatal hypoglycemia is seen in |\UGR infants, preterm infants, infant of diabetic mothers, / LGA infants, and infants at risk of asphyxia. The onset is usually 2-6 hours of life, and symptoms / include jitteriness, seizures, cyanosis, hypotonia, and respiratory distress (G p.670). / Asonaiat hypocalcemia is seen in |UGR feluses and has ymptoms similar to / hypoglycemia, including jitteriness (G p.878). 4? 7/> wafurs Ree parame / Hypothermia is common in infants that undergo delivery room resuscitation, and it can be / a sign of infection or intracranial pathology. Symptoms include poor feeding, lethargy, coolness / of skin, bright red color, slow respirations, and bradycardia (G p.668). | could not find jitteriness / mentioned anywhere in my texts on the subject, so | think this has got to be the answer.

Continuation of ABO incompatibility case. ABO isoimmunization is a pediatric problem (not OB); disease milder than D-isoimmunization; can recur but rarely becomes severe. For neonatal jitteriness: the cause NOT associated with jitteriness is A. Hypothermia. Hypothermia presents with poor feeding, lethargy, bradycardia -- NOT jitteriness. Jitteriness IS caused by hypoglycemia, hypocalcemia, hypoxia, drug withdrawal, and polycythemia. (Gabbe Obstetrics p.670, p.878 as cited in card text)

What is not covered by Cephalosporins? — Options: a. Enterococcus / b. Group A Strep / c. Group B Strep

What is NOT covered by cephalosporins? Correct answer: A. Enterococcus. Cephalosporins (all generations) have no reliable activity against Enterococcus species due to intrinsic resistance. Cephalosporins effectively cover Group A Streptococcus (S. pyogenes) and Group B Streptococcus (S. agalactiae). Enterococcal infections require ampicillin, vancomycin, or linezolid. (Williams Obstetrics 26e p.1671 -- puerperal infection chapters)

What causes Toxic Shock Syndrome? — Options: a. Group A Strep / b. Group B Strep / c. Clostridium / d. Anaerobic Strep / Group A streptococcus (GAS, eg, Streptococcus pyogenes) is an aerobic gram-positive coccus / that causes pharyngitis and a spectrum of skin and soft tissue inféctions such as impetigo, / erysipelas, and localized cellulitis. / Streptococcal TSS occurs after trauma, surgery, delivery / S. aureus TSS occurs w/menses, tampons

What causes Toxic Shock Syndrome (obstetric context)? Correct answer: A. Group A Streptococcus (S. pyogenes). GAS causes streptococcal TSS after trauma, surgery, or delivery (often associated with necrotizing fasciitis). S. aureus causes TSS in the context of menses/tampons. In obstetrics, GAS is the feared cause of post-delivery TSS. (Williams Obstetrics 26e p.1703 as cited in card text)

What decreases oral contraceptive efficacy? — Options: a) Rifampin

What decreases oral contraceptive efficacy? Rifampin (rifampicin) is the most potent inducer of hepatic CYP450 enzymes and dramatically reduces OC efficacy by accelerating estrogen and progestin metabolism. Other enzyme inducers that decrease OC efficacy: certain anticonvulsants (phenytoin, carbamazepine, barbiturates, topiramate, oxcarbazepine) and antiretrovirals (ritonavir-boosted PIs, efavirenz, nevirapine). The correct answer is rifampin. (not located in library -- standard pharmacology)

What is the most appropriate therapy for prophylaxis against mycobacterium avium in a pregnant (1/4) — Options: patient with a CD4 count of 48? / A: Sulfa drugs / « Isoniazid / 6 Azithromycin / D: Penicillin / The answer is C. / Previously the recommendation has been that patients with CD4 counts below 75 receive / prophylaxis against mycobacterium-avium complex with rifabutin. However, due to the extensive / drug-drug interactions of rifabutin, the more efficacious agents azithromycin or clarithromycin are first / line prophylaxis now. Here is a breakdown of some of the recommended HIV prophylaxis. / medications from the CDC website www cdc. gov/mmwi/PDE/AR: ARS 108. cdf (last updated in 2002): / « Pneumocystis carinii pneumonia. The most effective prophylactic medication remains / trimethoprim-sulfamethoxazole (Bactrim, Septra), but alternative agents can be effective for / patients unable to take trimethoprim-sulfamethoxazole. Prophylaxis is indicated for patients with a / CD4+ T-lymphocyte count of less than 200 cells per mm* (200 3 10° per L) and for patients with / symptomatic HIV disease.. / « Toxoplasmosis. Trimethoprim-sulfamethoxazole and some other combination drug therapies / used as prophylaxis against P. carinii pneumonia are effective against toxoplasmosis, a likely / reason that the incidence of this disease is relatively low. / + Mycobacterium avium complex (MAC) disease. The guidelines now recommend prophylaxis for / MAC at the CD4+ count threshold o(30 dels per mm? (50 3 10° per L), not 75 cells per mm® (75 / 3 10° per L) as recommended previously. Use of clarithromycin (Biaxin) or azithromycin / (Zithromax) as prophylaxis against MAC disease is effective. / + Antifungal prophylaxis with fluconazole (Diflucan) can be given when the CD4+ count is less than

Most appropriate MAC prophylaxis in a pregnant patient with CD4 count of 48 (<50): C. Azithromycin. Azithromycin (or clarithromycin) is first-line MAC prophylaxis at CD4 <50. Previously rifabutin was used (threshold CD4 <75), but azithromycin/clarithromycin are now preferred due to fewer drug interactions and better efficacy. Sulfa drugs (TMP-SMX) cover PCP (CD4 <200) and Toxo (CD4 <100). Isoniazid is for latent TB. Penicillin is not used for MAC. (CDC MMWR/HIV guidelines as cited in card text) (source not located in provided texts)

What is the most appropriate therapy for prophylaxis against mycobacterium avium in a pregnant (2/4) — Options: 50 cells per mm®. but patients need to be informed that studies have not shown survival benefits / and that fluconazole resistance can become a problem. / + Cytomegalovirus disease prophylaxis with oral ganciclovir (Cytovene) is an option clinicians and / patients can consider when CD4+ counts decrease to less than 50 cells per mm®, but the / guidelines do not recommend routine prophylaxis because of adverse hematologic effects, limited / efficacy and cost. / 8.*Most common side effect of AZT / a. myositis., / b. tach _- Code hoe ANEMIA: CORFELT / c. bone marrow suppression / d. hepatomegaly with steatosis / e. other choice (NOT anemia) / 9.What is the most common side effect of anti-HIV medications? / a. Liver toxicity / b. Anemia / c. Peripheral neuropathy / d. Headache / The answer Is A. Anti-HIV meds have a wide range of toxicities. Tne most commonly used / anti-HIV medications and their toxicities are listed below (H p.1847-1848): / Reverse Transcriptase Inhibitors / Zidovudine (AZT) Anemia, granulocytopenia, myopathy, lactic acidosis, hepatomegaly, headache, / nausea a / Didanosine (ddl) Pancreatitis, peripheral neuropathy, LFT abnormalities / Zalcitabine (ddC) Peripheral neuropathy, pancreatitis, lactic acidosis, hepatomegaly with steatosis, / lactic acidosis / StavudinePeripheral neuropathy, pancreatitis ‘acne p~ridesis / Lamivudine (3TC) Peripheral neuropathy, pancreatitis / Nevirapine Skin rash, LFT abnormalities Fuwsinay Vege ns / Protease Inhibitors. aiswwn. Fete. SO PTE / Ritonavir Nausea, abdominal pain, altered tevels of other drugs / Indinavir Nephrolithiasis, indirect hyperbilirubinemia / Nefinavir Diarrhea, loose stools

Most common side effect of AZT (zidovudine): anemia and granulocytopenia (bone marrow suppression). AZT can also cause myopathy, lactic acidosis, and hepatomegaly with steatosis. Most common side effect of anti-HIV medications overall: A. Liver toxicity (hepatotoxicity/elevated LFTs) is a class-wide effect seen across most antiretrovirals. Combivir (ZDV + 3TC) and lamivudine: most common toxicities include neutropenia (up to 15% with 3TC alone) and elevated liver enzymes (AST/ALT 3.8-4.7%). Fatal hepatic failure has been reported with ZDV + lamivudine (similar to AFLP, possibly mitochondrial toxicity). (H p.1847-1848 as cited in card text)

What is the most appropriate therapy for prophylaxis against mycobacterium avium in a pregnant (3/4) — Options: As you can see, almost all of the answers are represented there to some extent. Although anemia is / the most common complication of AZT (which is the most common medication used ‘to treat HIV), | / felt that liver abnormalities were more common than anemia. Good luck with this one. / 10.2 22 yo G2P1 patient arrives in labor at an EGA of 37 weeks by last menstrual period with no / prenatal care. During your initial evaluation she admits to testing positive for HIV in the past but / has taken no anti-HIV medications during this pregnancy. What would be the appropriate / treatment for this patient? / (a) 38TC/ALT / b. Nelfinivir / c. Nevirapine- avert © wert um comm 260 °F Hamor naint / d. Sulfa drugs Ce tems dy heyetoron cet / The answer is C. /! actually couldn't find this in any textbooks but | did find the answer on the NIH website. If a / woman shows up in labor with no prior treatment during pregnancy, two regimens can help decrease / the risk of HIV transmission to the infant. The first is AZT and 3TC during labor and then continued / therapy for both mother and child after birth. Although 3TC is an answer, | didn’t see AZT up there / so | don't think this is the right answer. / The second accepted regimen is a single dose of nevirapine in labor and a single dose for the child / 2-3 days after birth. This has been advocated as an easier way to reduce the transmission rate in / developing countries. The problem with this methad is that resistance can develop in up to / 40% of women who take the single dose. This resistance has been shown to transmit to the child / through breastfeeding as well. Despite these caveats, | fell that this is the best answer.

HIV-positive woman presenting in labor at 37 weeks with no prior antepartum treatment: correct answer C. Nevirapine (single-dose intrapartum nevirapine). Two accepted regimens: (1) AZT + 3TC during labor with continuation postpartum for mother and child; (2) single-dose nevirapine to mother in labor + single dose to infant 2-3 days after birth. Single-dose nevirapine is simpler (important in resource-limited settings) but nevirapine resistance develops in up to 40% of women and this resistance can be transmitted through breastfeeding. Nelfinavir and sulfa drugs are NOT indicated in this situation. (CDC/NIH HIV treatment guidelines as cited in card text) (source not located in provided texts)

What is the most appropriate therapy for prophylaxis against mycobacterium avium in a pregnant (4/4) — Options: Nelfinivir and sulfa drugs are not indicated in this situation. / 11.What measure on vesicocentesis is predictive of poor renal function or poor outcome? / a. Na

Vesicocentesis measure predictive of poor renal function: osmolality >200-210 mOsm/L (or >240 per Creasy) indicates poor renal concentrating ability. Good prognosis fetal urine values: sodium <100 mg/dL, chloride <90 mg/dL, osmolality <210 mOsm/L (Creasy uses <240), calcium <8 mg/dL, total protein <20 mg/dL, beta-2-microglobulin <6 mg/dL. "Bad kidneys let electrolytes and proteins leak through." Perform 3 bladder taps 48 hours apart; use fresh samples. For "which does not increase during pregnancy": ALL increase -- aldosterone, ANP, and angiotensin all increase. Answer D (all increase). (Creasy & Resnik MFM p.343 as cited; Gabbe p.97 as cited)

After a meal what is most likely to be seen to increase in the Biophysical Profile? — Options: a. Breathing / b. Movement Crqgperttrs = / c. Tone / d. NST / e. AFI

After a meal, the BPP component most likely to increase is A. Breathing (fetal breathing movements). Fetal breathing movements are stimulated by postprandial hyperglycemia. Gross body movements and tone also increase somewhat but less consistently and reliably than breathing movements. NST reactivity and AFI do not show the same acute postprandial response. (Creasy & Resnik MFM p.721)

Which is most likely to be abnormal with fetal acidemia? — Options: On BPP, NST is first to go away. Then breathing, then movement. Tone is last to go before fetus is acidemic.

Which BPP parameter is most likely to be ABNORMAL with fetal acidemia? With progressive fetal compromise, BPP components disappear in this order (last-developed CNS function lost first): NST reactivity disappears FIRST, then breathing movements, then gross body movements, then tone disappears LAST. Therefore with early/mild acidemia, NST is most likely to be abnormal first. Tone (most primitive CNS function) is last to disappear and its loss represents severe/imminent compromise. (Creasy & Resnik MFM p.721)

Most likely cause of delayed meconium passage in neonate (1/2) — Options: a) Trisomy 21 / b) Hirschsprung's disease / c) CF / d) TE fistula / Which is least associated with long-term sequelae in the neonate? a) oliguria — Nearly all newborns are oliguric at birth; urine output usually normalizes within 24 hrs / Which has fastest onset when given intrathecally? a. Lidocaine / Which is the longest lasting local anesthetic for use in epidurals? D. Bupivacaine (180-300 mins) / Chlorprocaine 30-90 mins — Ester; metabolized very quickly by fetal enzymes / Lidocaine 30-90 mins — Amide / Tetracaine 75-200 mins — Ester; mostly used for spinals / Bupivacaine 180-300 mins — Amide; 0.75% solution associated with cardiac arrhythmias / What local anesthetic has the shortest half-life in the neonate? B. Chlorprocaine

Most likely cause of delayed meconium passage in the neonate: B. Hirschsprung's disease (congenital aganglionic megacolon). Failure of ganglion cells to migrate into distal colon leads to functional obstruction and failure to pass meconium within 48 hours. CF causes meconium ileus (inspissated meconium in small bowel; ~10-15% of CF newborns). For anesthetics: fastest intrathecal onset = lidocaine; longest-lasting epidural = bupivacaine (180-300 min); shortest neonatal half-life = chloroprocaine (ester, rapidly metabolized by fetal/neonatal plasma esterases -- answer B to "shortest half-life"). (Gabbe Obstetrics p.436-437 as cited in card text)

Most likely cause of delayed meconium passage in neonate (2/2) — Options: b. Chiorprocaine / c. Lidocaine. 5. / d. Bupivicaine (marcaine) - })“4'> Avt fo prevcncget bla here ML PNe” ch eames / UA YAY I trl end / The answer is D. / See the table under question 7. Bupivicaine in the 0.75% dose has been considered to be / cardiotoxic if injected intravascularly=> pulled by FDA, 0.5 is rec conc for use in OB, the problem with / bupivicaine cardiotoxicity is that it is difficult to reverse / Local anesthetic toxicity consists of two components, CNS and cardiovascular. CNS symptoms / usually begin with excitation, ringing in the ears, and disorientation. This is followed by convulsions / and then a depressed, postictal state. / The cardiovascular symptoms occur at much higher concentration of local anesthetic. These / consist of hypertension and tachycardia followed by hypotension, arrhythmias, and occasionally / cardiac arrest. Bupivicaine is an exception to this rule however, as there have been several / instances where the cardiovascular effects were noticed long before the CNS effects. In addition, / there is laboratory evidence that bupivicaine is more cardiotoxic than other local anesthetics (G / p.436-437).

Shortest neonatal half-life among local anesthetics: B. Chloroprocaine. Chloroprocaine is an ester rapidly metabolized by plasma cholinesterases (including fetal enzymes), making it safest for neonatal exposure. Bupivacaine (0.75%) is cardiotoxic when given intravascularly -- unlike other agents where CNS symptoms reliably precede cardiovascular collapse, bupivacaine causes nearly simultaneous CNS and CV toxicity (cardiac dysrhythmias may precede CNS symptoms), making resuscitation extremely difficult. FDA removed 0.75% bupivacaine from OB use; 0.5% is the recommended concentration. Treatment includes intralipid emulsion rescue and amiodarone. (Gabbe Obstetrics p.436-437 as cited in card text; Williams Obstetrics 26e p.1205)

What is the most likely cause of death from regional anesthesia? _ B. — Options: a. Allergic reaction to local anesthetic ~ Canam Wet Por oben Coblene / Q) Toxicity from local anesthetic WS adn Cate uf or pened / c. Epidural bleeding ON EA dere eat) / d. Brain herniation / i. (high spinal not a choice) / Per UpToDate the 3 big SE from regional anesthesia / systemic local toxicity: CNS toxicity (seizures) cardiovascular tox, dysrythmias. Dysrhtymias very / hard to control, esp if due to bupivaine tox. Tx with amiodarone. / high spinal / spinal HA — seen in 2-4%. Spinal HA is likely if the dura is punctured with an epidural needle, due to / its large size.

Most likely cause of death from regional anesthesia: B. Toxicity from local anesthetic. Systemic local anesthetic toxicity causes CNS toxicity (seizures) and cardiovascular toxicity (arrhythmias). Bupivacaine-induced arrhythmias are particularly difficult to reverse (intralipid emulsion is the treatment of choice). The 3 major serious complications of regional anesthesia: (1) systemic local anesthetic toxicity -- most lethal; (2) high/total spinal; (3) spinal headache (common but rarely fatal). Allergic reactions are rare. (Williams Obstetrics 26e p.1205 -- obstetric analgesia)

Which of the following is not a possible side effect of halothane given for Cesarean section? — Options: A. Hemorrhage / Halothane is a commonly used inhalation anesthetic for Cesarean section. Well-known side effects include hepatotoxicity and it is a known cause of hepatitis. A rash can sometimes be part of this picture. Malignant hyperthermia is a recognized risk of halothane use and is usually treated with dantrolene. Hemorrhage is not usually associated with general anesthesia for Cesarean section.

Which is NOT a possible side effect of halothane for cesarean section? A. Hemorrhage. Halothane's well-recognized side effects include: hepatotoxicity (halothane hepatitis, idiosyncratic reaction), malignant hyperthermia risk (treated with dantrolene), and rash. Halothane causes uterine relaxation but hemorrhage itself is not a listed primary pharmacologic side effect. The answer is A. Hemorrhage. (not located in library -- standard anesthesia pharmacology) (source not located in provided texts)

Spinal anesthesia resulting in sympathetic blockade is worst for: — Options: a) mitral insuff / b) coarctation / c) PHTN / d) IHSS / Do not want drop in preload. Must keep preload up in RV in order to have enough blood to / perfuse the elevated pulmonary vascular bed

Spinal anesthesia causing sympathetic blockade is worst for: C. Pulmonary hypertension (PHTN). In PHTN, the right ventricle is pressure-overloaded against elevated PVR. Sympathetic blockade drops SVR and preload, reducing RV filling pressure and causing RV failure/cardiovascular collapse. Preload must be maintained to perfuse the pulmonary vascular bed. PHTN/Eisenmenger syndrome carries the highest maternal mortality of all cardiac conditions (30-50%). The answer is C. PHTN. (Creasy & Resnik MFM p.1232)

Which is most likely with epidural for term labor? — Options: a) endometritis

Most likely complication/finding with epidural for term labor: the card choices include endometritis and prolonged stages. Epidural analgesia is associated with epidural-associated fever (indistinguishable from chorioamnionitis), which clinically mimics endometritis and leads to increased neonatal sepsis workups. Among the listed choices, endometritis (fever that may be attributed to infection) is the most likely clinical consequence listed. (Berghella Obstetrics 4e p.254 for labor management)

prolonged 1" stage — Options: c) prolonged 2" stage / d) cesarean delivery / e€) malpresentation / C&R 6" ed p. 716-717

Epidural labor effects: prolonged 2nd stage is the most consistently documented labor effect of epidural analgesia. Epidurals prolong the second stage (expulsive phase) due to reduced maternal expulsive effort and reduced Ferguson reflex, increasing the rate of operative vaginal delivery. This does NOT significantly increase the cesarean delivery rate when managed appropriately (adequate time, oxytocin augmentation). (Creasy & Resnik MFM 6th ed p.716-717 as cited in card text)

Which is least likely to deliver vaginally (term, 6cm dilated, 0 station)? — Options: a brow — auins tng) BF Antes AL baaeyat chermedem (rents / b. mentum anterior Le pees Pee cen Fz PAS SI en beret Con Oem FY / Cc. footting breech Hd ry edly / d. occiput posterior Dy onde cet be Gabten gel Cents a ND Uy oe / e. occiput transverse

Which presentation is LEAST likely to deliver vaginally (term, 6 cm dilated, 0 station)? A. Brow presentation. Brow presentation engages at the largest fetal head diameter (mento-vertex, ~13.5 cm), which exceeds the average pelvic inlet. It can neither fully flex (to vertex) nor fully extend (to face) and almost always requires cesarean delivery -- "engagement of the fetal head and subsequent delivery cannot take place as long as the brow presentation persists" unless the brow converts. Face presentation in mentum ANTERIOR CAN deliver vaginally. Occiput posterior and transverse can deliver vaginally (often with rotation). Footling breech at term is usually cesarean. Among the choices, brow is LEAST likely to deliver vaginally. (Williams Obstetrics 26e p.1126)

Seizure postpartum day 10 after PIH and epidural- which most likely cause? — Options: a. cavernous sinus thrombus / b. AVM / @ eclampsia /. brain tumor / e. CSF leak

Seizure on postpartum day 10 after PIH and epidural: most likely cause is C. Eclampsia (late postpartum eclampsia). Eclampsia can occur up to 4-6 weeks after delivery; cases beyond 48 hours postpartum are termed "late postpartum eclampsia." History of PIH is the critical risk factor. Cavernous sinus thrombosis would present with headache, eye findings, and cranial nerve palsies. AVM and brain tumor are far less likely in this clinical context. Spinal headache from epidural causes positional headache but NOT seizures. (Williams Obstetrics 26e p.1801 for preeclampsia/eclampsia)

Which is least likely to need bacterial endocarditis antibiotic prophylaxis? — Options: a. afib / b. IHSS HK PANS Hig ancocasde > / c. Prosthetic valve — Sele 32 Crtno / dg. Pacemaker owe en en eee / / Yawmns oe yrraattee Carndaw st noetrared / 30.What is the cause of a post regional headache? / a. Increased intracranial pressure / b. Traction on pain sensitive structures / c. Vasoconstriction / d. Herniation / 31. PVL is associated with which maternal infection? / “a. Chorioamnionitis / b. Pyelonephritis / ¢. Pneumonia

Which is LEAST likely to need bacterial endocarditis antibiotic prophylaxis? A. Atrial fibrillation. Afib is an arrhythmia without valvular or structural defect and does NOT require endocarditis prophylaxis. AHA/ACC guidelines require prophylaxis for: prosthetic cardiac valves, previous infective endocarditis, certain congenital heart defects (unrepaired cyanotic, including palliative shunts/conduits; repaired with residual defects), and cardiac transplant with valvulopathy. IHSS was historically included but current AHA guidelines have substantially narrowed indications. A pacemaker alone does not require prophylaxis unless associated valvular disease. Afib is the LEAST likely to require prophylaxis. (not located in library -- AHA endocarditis guidelines) (Creasy & Resnik MFM 9e p.1271)

°Which of the following is most predictive of the development of cerebral palsy? — Options: G Chorioamnionitis /. Maternal thrombophilia / c. Preeclampsia / d. Administration of steroids / The answer is A. / This is a really tough question but | think the answer is chorioamnionitis. There is a definite tink / between the presence of chorioamnionitis and the development of cerebral palsy, even when the / chorioamnionitis occurs at term (C p.725). There is also a definite association between preterm / labor and cerebral palsy, and the development of chorioamnionitis or Preeclampsia puts the fetus at / an increased risk of preterm delivery. | could not find any association between thrombophilia and / steroid administration and cerebral palsy. / 33.* What is the most common side effect with Combivir and Lamivudine? / a. Bone marrow suppression (I think it is this one) / Vib/\Hepatotaxicitg~ / Combivir package insert: Anemia 2.9%: Incr. ALT 3.7%; Incr. AST 4 7%; Neutropenia 7.2% / Lamivudane (3TC)}+"current med” anemia 2.2%; Incr. ALT 3.8%: Incr. AST 4.0%; Neutropenia 15% / 2 cases of fatal liver fail in women on ZDV, lamivudine. Presentation similar to AFLP, both may be / mitochondrial oxid. disorders. Anemia seen with ZDV, exp with severe AIDS

Most predictive of development of cerebral palsy: A. Chorioamnionitis. Intrauterine infection/inflammation (chorioamnionitis) has a well-established association with CP, including at term. Pathophysiology involves cytokine-mediated fetal brain injury (periventricular leukomalacia in preterm infants). Preeclampsia and preterm labor are risk factors mainly through association with preterm birth and/or chorioamnionitis. For Combivir/Lamivudine most common side effect: neutropenia (7.2-15%) and elevated liver enzymes; bone marrow suppression is seen with ZDV. (Williams Obstetrics 26e p.1549; Williams Obstetrics 26e p.2084)

What is the most predictive of neonatal transmission of HIV? — Options: a. Duration of membrane rupture / b. CD4 count / c. Viral toad/HIV RNA / d. Choricamnionitis / e. Co-infection with HSV / Duration of membrane rupture probably does have an increased tisk of transmission, but RNA / viral load is more predictive. Basically anything that indicates the extent of matemal infection / correiates with transmission risk, and viral load is the most sensitive indicator of that (C p.805-

Most predictive of neonatal HIV transmission: C. Viral load (HIV RNA level). Maternal HIV RNA viral load is the strongest independent predictor of perinatal (vertical) transmission. Achieving an undetectable viral load with ART reduces transmission to <1-2%. Duration of membrane rupture increases transmission (~2% per hour after 4 hours in some studies), but RNA viral load is more consistently predictive. CD4 count correlates inversely but is not as directly predictive as viral load. Chorioamnionitis and HSV co-infection increase risk but are secondary factors. (Creasy & Resnik MFM p.805 as cited in card text)

ye at Cal ses reversible hearing loss in the fetus? — Options: Qasr / “6. Stveptomycin ARAee neve Vit ARMag AW neon etus. / c. Cyspiatinum bused ie fy THR) + Mts e ewin ae Fons oty / Vy pte ened / Couldn't verify — strepto can cause reversible hearing loss, reports of permanent fetal hearing loss, / ASA can cause reversible hearing loss

What causes reversible hearing loss in the fetus? Based on the card: ASA (aspirin) causes dose-dependent, reversible salicylate-induced hearing loss that resolves with drug discontinuation. Streptomycin causes predominantly permanent ototoxicity (auditory and vestibular damage from aminoglycoside toxicity), though some reports describe reversibility. Cisplatin causes permanent sensorineural hearing loss (accumulates in cochlear hair cells). ASA is the best answer for REVERSIBLE fetal/neonatal hearing loss. (Reprotox as cited in card text) (source not located in provided texts)

What is the most common triploidy in abortuses? (do they mean trisomy?) — Options: a. Tri 16 - most common trisomy in abortuses / b. Tri 18 / c. Tri 13 / d. Triad / e. Triploidy in 15% of chrom. abnorm. abortus.

Most common trisomy in abortuses: A. Trisomy 16. Trisomy 16 is the most common single autosomal trisomy in spontaneous abortuses (~7.27% of all miscarriages), never compatible with live birth. T21 (~2.11% of abortuses), T18 (~1.15%), T13 (~1.07%). Triploidy accounts for ~15% of all chromosomally abnormal abortuses (if the question had asked about chromosomal abnormalities in abortuses including polyploidy, triploidy would also feature prominently). (Simpson and Elias Genetics in Obstetrics and Gynecology as cited in card text) (Williams Obstetrics 26e p.801)

Which is seen with holoprosencephaly and midline facial defects? — Options: @ Tri 13 /. Tri24 / ce. Trii8 / 38.A patient is sent to you for amniocentesis due to the finding of a fetal cleft lip, ventricular septal / defect, and holoprosencephaly. What is the most likely chromosomal diagnosis? / (a) Trisomy 13

Holoprosencephaly with midline facial defects is most commonly associated with Trisomy 13 (Patau syndrome), answer A. T13 features: holoprosencephaly (~40%), cleft lip/palate (~45%), microphthalmia/anophthalmia/cyclopia, polydactyly, cystic kidneys, cardiac defects (VSD), omphalocele, increased nuchal translucency (72%). For the amniocentesis patient with cleft lip + VSD + holoprosencephaly: the most likely chromosomal diagnosis is A. Trisomy 13. Ultrasound visible abnormalities in 90% of T13 cases. (Williams Obstetrics 26e p.796)

Trisomy 18 — Options: c. Trisomy 21 / d. Triploidy / The answer is A. / Trisomy 13 has an ultrasound visible abnormality in 90% of cases. The most common are cleft lip / (45%), holoprosencephaly (40%), increased nuchal translucency (72%), cystic hygroma (21%), / and enlarged cisterna magna (15%). Other findings include cardiac defects (including ventricular / septal defects) and omphalocele. Cystic kidneys are also seen and it can be confused with / Meckel-Gruber syndrome (S p.4-5). / Ly as mural ole

Trisomy 13 (Patau syndrome) has ultrasound-visible abnormalities in ~90% of cases. Most common findings: cleft lip (45%), holoprosencephaly (40%), increased nuchal translucency (72%), cystic hygroma (21%), enlarged cisterna magna (15%), cardiac defects including VSD, omphalocele, cystic kidneys. Can be confused with Meckel-Gruber syndrome (autosomal recessive, normal karyotype, cystic kidneys + encephalocele + polydactyly). Trisomy 18 (Edwards syndrome) shows a different pattern: overlapping fingers, choroid plexus cysts, strawberry skull, IUGR, rocker-bottom feet. The answer for cleft lip + VSD + holoprosencephaly = Trisomy 13. (Williams Obstetrics 26e p.796)

What is used in the treatment of IHSS? (1/2) — Options: a. Propranolol / b. Verapamil / Treat with beta-blocker, similar to aortic stenosis. Avoid hypotension (can be lethal due to decreased coronary perfusion). Avoid bradycardia and arrhythmia (can lead to sudden death). No SPINAL! Autosomal dominant. / Mechanism of action of beta-mimetics on uterine myometrium: C. Increase cAMP levels in myometrium / Beta mimetic agents cause relaxation of uterine smooth muscle by increasing cAMP, which increases protein kinase A activation, causing decreased myosin light chain phosphorylation → relaxation / Treatment for IHSS in pregnancy: D. Propranolol / Idiopathic hypertrophic subaortic stenosis is an autosomal dominant condition with variable penetrance. Treatment is primarily by administration of beta blockers to reduce heart rate and maintain cardiac output. / Which antihypertensive increases cardiac output? B. Hydralazine — acts directly on vascular smooth muscle to cause peripheral vasodilation.

D. Propranolol. Idiopathic hypertrophic subaortic stenosis (IHSS/obstructive HCM) is autosomal dominant. Beta-blockers such as propranolol are the treatment of choice because they reduce outflow obstruction by decreasing heart rate and contractility; vasodilators and positive inotropes are contraindicated. (Creasy & Resnik MFM p.440)

When to use a one-tailed t-test? — Options: b. Results can only go in one direction / CI is always lower than standard deviation? c. Coefficient of variation / What percentage of results are greater than 2 standard deviations above the mean in a two-tailed test? b. 2.5% / What is least important for determining sample size? c. Desired chi-squared result / Which is least important for power analysis? e. Desired chi-squared result / What is formula for odds ratio? a. Ratio of exposed cases to unexposed cases divided by ratio of exposed controls to unexposed controls

b. Results can only go in one direction. A one-tailed test is used when the investigator hypothesizes that results will differ in only one direction (e.g., treatment is better, not worse). It has greater power to detect effects in the hypothesized direction but cannot detect effects in the opposite direction. (Creasy Study Guide p.147)

How does iodine treat hyperthyroidism? — Options: a) Decrease thyroxine release

a) Decrease thyroxine release. High-dose iodine (Wolff-Chaikoff effect) acutely inhibits thyroid hormone synthesis and release, providing rapid reduction in thyroid hormone levels. This mechanism is exploited in thyroid storm management (e.g., potassium iodide given after thionamides). (Creasy & Resnik MFM p.425)

What is most associated with fetal risk? — Options: a) antimicrosomal antibodies TY U, / ) thyroglobulin binding antibodies CRESS 4 Cave fete qoeetey / c) thyroid receptor stimulating antibodies / TSI can cause fetal Graves, even after mom has been treated for the disease

c) Thyroid receptor stimulating antibodies (TSI/TRAb). In maternal Graves disease, TSI cross the placenta via FcRn receptor and can stimulate the fetal thyroid, causing fetal or neonatal hyperthyroidism even if the mother has been treated and is euthyroid. TSI levels should be measured in mothers with current or prior Graves disease. (Creasy & Resnik MFM p.425)

Patient at 11-14 weeks with nausea, vomiting, low TSH, normal T3 and T4 — which is most likely? — Options: b) Hyperemesis gravidarum / Hyperemesis is associated with a biochemical hyperthyroidism (low TSH) / What does oral contraception decrease the least? a. Breast CA (may increase CA in BRCA1 carriers)

b) Hyperemesis gravidarum. Elevated hCG levels in hyperemesis gravidarum cause biochemical hyperthyroidism (suppressed TSH, elevated free T4) due to cross-reactivity of hCG with TSH receptors. This is transient gestational thyrotoxicosis and does not require antithyroid treatment unless there are clinical signs of true hyperthyroidism. (Berghella MFM Guidelines 4e p.106)

Which is best candidate for combined OCPs postpartum? — Options: fa prot S def / AS. prot C def / Se factor V Leiden Wale gol /.& antithrombin Ill / €. antiphospholipid antibody syndrome / 63.A mother with HIV wants to take anti-retroviral medication. What is the ethical principal? / a. Paternalism / b. Beneficence

Protein S deficiency is the least thrombogenic among common thrombophilias in relation to combined oral contraceptive use. All thrombophilias increase VTE risk with estrogen-containing contraceptives; however, antithrombin deficiency and Factor V Leiden homozygosity carry the highest risks, while protein S deficiency carries a relatively lower absolute risk. (U.S. Medical Eligibility Criteria for Contraceptive Use, 2024 p.30)

Which is most important in clinical research? mt cCieostt — Options: a. informed consent / b. confidentiality / c. lack of conflict of interest

a. Informed consent. In research involving human subjects, informed consent is the paramount ethical requirement, ensuring participants understand the study purpose, risks, benefits, and their right to withdraw without penalty. This is foundational to ethical research conduct and protects participant autonomy. (Creasy & Resnik MFM p.43)

Which is not dependent on placental blood flow? — Options: a) DHEAS / b) Estriol / ¢) Estrone / d) Estradiol / ot sure about this… ¥

a) DHEAS (dehydroepiandrosterone sulfate). DHEAS is derived from the fetal and maternal adrenal glands, not from placental blood flow. In contrast, estriol levels depend on placental blood flow and 16-hydroxylation in the fetal liver and adrenal. Therefore DHEAS is not a marker of uteroplacental blood flow. (Berghella Obstetrics 4e p.54)

» How does IgG cross the placenta? — Options: a. Pinocytosis / b. Simple diffusion prot, weUR Wied aed prous / @ Active Transport / é Facilitated diffusion gwvese / e. More than one of the above / The answer is A. og? / IgG crosses the placenta by receptor mediated endocytosis (G p.69-70). Other substances that / cross the placenta in this manner include insulin, transferrin, and low density lipoprotein (LDL). / = york Meme ened (veoeet)

A. Receptor-mediated endocytosis via FcRn (neonatal Fc receptor). IgG is selectively transported across the placenta by binding to FcRn receptors on syncytiotrophoblast, which mediates transcytosis to the fetal circulation. This explains why maternal IgG (including antibodies) are transferred to the fetus while IgA and IgM are not. (Creasy & Resnik MFM p.70)

Which enzyme is responsible for placental metabolism of glucocorticoids? — Options: b) 11-beta steroid dehydrogenase type 2 (inactivates maternal cortisol and corticosterone) / Which enzyme is missing in the fetus? b) 3β-hydroxysteroid dehydrogenase → cannot secrete progesterone

b) 11-beta hydroxysteroid dehydrogenase type 2 (11-beta HSD2). This enzyme in the placenta converts active cortisol to inactive cortisone, protecting the fetus from high maternal cortisol concentrations. Deficiency of this enzyme allows excess cortisol to reach the fetus, potentially causing intrauterine growth restriction and programming effects. (Creasy & Resnik MFM p.77)

What can be given to prevent virilization of a female fetus in patients at risk of congenital adrenal — Options: hyperplasia? / a. Cortisone acetate / b. Cortisone gluconate / ¢. Hydrocortisone / &) Dexamethasone / The answer is D. / See the explanation for the previous question. / 80.Where is fetal leptin produced? - betty Ute $ synuyhe / a chorion / q amnion /. (&) total ad Wiiitend GA. 24% / ‘etal adipose 5 eared Wy Ht ph Xn / @ placenta muy rte a verlownde cao

d) Dexamethasone. Dexamethasone is the steroid of choice for treating a female fetus at risk for CAH virilization because it is not inactivated by placental 11-beta HSD2 and effectively crosses to the fetus to suppress fetal ACTH and adrenal androgen production. Treatment must begin before 9 weeks to prevent genital virilization. (Creasy Study Guide p.216)

What karyotype is suggestive of uniparental disomy? — Options: a. 45,X / b. Triploidy / c. T18 / d. T21 / e. 47,XXY

Trisomy 15 on CVS is most associated with uniparental disomy (UPD). Trisomy 15 undergoes trisomy rescue most commonly, and if the two retained chromosomes both come from the same parent, UPD results. UPD of chromosome 15 causes imprinting disorders: maternal UPD 15 causes Angelman syndrome; paternal UPD 15 causes Prader-Willi syndrome. (Creasy & Resnik MFM p.29)

Which of the following karyotypes obtained on CVS is most likely due to uniparental disomy? (1/2) — Options: a. 45,XO / b. 47,XXX / c. 47,XY,+15 / d. 47,XX,+21 / The answer is C. / Uniparental disomy (UPD) occurs when an offspring receives both copies of a particular chromosome (or part of a chromosome) from only one of its parents. The disomy can be two copies of the same chromosome (Isodisomy) or one copy of each of the given parent's chromosomes (Heterodisomy). Uniparental disomy phenotype effects may be complex. Trisomy mosaicism is present in the placental tissues of many cases of UPD, autosomal recessive disease may result from homozygosity resulting from UPD and imprinted gene effects may occur for certain chromosomes involved in UPD. / More than 30 cases of maternal disomy 15 have been recorded. UPD 15 may account for about 20-25% of all Prader-Willi syndrome (PWS) and is associated with maternal age. PWS patients with UPD 15 maternal have no additional phenotypic abnormalities compared to PWS resulting from paternal deletions in 15q11-q13, suggesting the imprinting effect on chromosome 15 is limited to the proximal region. Paternal disomy has been recorded in association with Angelman syndrome.

c. 47,XY,+15. Trisomy 15 is most strongly associated with uniparental disomy because chromosome 15 contains imprinted genes. When trisomy 15 undergoes trisomy rescue, there is approximately 1/3 chance both remaining chromosomes come from one parent, creating UPD 15, which causes Prader-Willi or Angelman syndrome depending on parental origin. (Creasy Study Guide p.47)

What is the risk of cystic fibrosis if a first-degree relative has the disease and if the carrier rate is — Options: 1/25? / a. 1/150 / b. 1/25 / c. 1/100 / d. 1/300 / First degree relative means 2/3 carrier risk (we know the person does not have the disease). / 2/3 x 1/2 x 1/25 x 1/4

a. The risk is 1/150. Calculation: The affected sibling means both parents are carriers (probability = 1 for both parents carrying CF mutation). The unaffected sibling has 2/3 chance of being a carrier. Partner of unaffected sibling has 1/25 carrier risk (general population). Probability of affected offspring: 2/3 x 1/25 x 1/4 = 1/150. (Creasy & Resnik MFM p.44)

Simple diffusion — Options: a. Facilitated diffusion - glucose / c. Active transport / d. Pinocytosis — immunoglobulins, proteins / e. More than one of the above / The answer is A. / Most maternal drugs do not have specific receptors on placental tissue to allow crossing by a receptor mediated method. Any substance that does not have a receptor mediated method usually crosses by simple diffusion through either an intracellular or extracellular pathway. Permeability is determined by molecule size, lipid solubility, ionic charge, and maternal serum binding proteins (G p.66). / Bulk flow > H2O

A. Simple diffusion. The vast majority of drugs cross the placenta by simple (passive) diffusion, driven by the concentration gradient. Factors favoring diffusion include small molecular weight, lipid solubility, low protein binding, and un-ionized form. Active transport and facilitated diffusion are used for nutrients, not most drugs. (Creasy & Resnik MFM p.702)

What causes chronic active hepatitis and cirrhosis? — Options: a. Hepatitis A / b. Hepatitis B / c. Hepatitis C / d. Hepatitis D / e. Hepatitis E / 15% of acute hepatitis is Hep C, 70% of chronic hepatitis, 50% of cirrhosis. 1.6% of people in the USA have hep C. / A normal pregnant patient in the third trimester — what would her glucose levels be? / Fasting: decreased / Postprandial: increased / Pulmonary catheter with the following readings is consistent with which process? / PAP 42/22: normal systolic 20-30, normal diastolic 8-12 — HIGH / SVR 1200: normal 1200 / CO 4.3: normal at term 6 — LOW / Wedge 7.0: normal at term 7.5 — slightly low / RAP 13 / a. Sepsis / b. Anaphylaxis / c. PIH / d. PE / e. Cardiac tamponade / PE = elevated RA and RV pressure, elevated SVR, low PCWP, and low CO.

c. Hepatitis C is responsible for approximately 70% of cases of chronic hepatitis and 50% of cases of cirrhosis in the United States. In pregnancy, approximately 1-4% of women are HCV-infected, with approximately 5% vertical transmission risk. Screening in pregnancy is recommended for all women. (SMFM Consult Series #56 p.1)

What is the wedge pressure indicative of? — Options: a. LV filling pressure / b. LV Function

a. LV filling pressure (left ventricular preload). The pulmonary capillary wedge pressure (PCWP), measured by pulmonary artery catheter in the wedged position, reflects left atrial pressure and thus left ventricular end-diastolic filling pressure. It is used to assess volume status and guide fluid management in critically ill patients. (Creasy Study Guide p.102)

What dictates delivery mode in patients with ITP? — Options: a. Obstetrical reasons / b. Maternal platelet count / c. Maternal response to medication / d. Fetal platelet count (scalp platelet count)

a. Obstetrical reasons. In ITP (immune thrombocytopenic purpura), the route of delivery should be determined by obstetrical indications alone. Cesarean section is not recommended solely because of ITP, as it does not reduce the risk of neonatal intracranial hemorrhage. Mode of delivery is based on standard obstetrical criteria. (Creasy & Resnik MFM p.1279)

What is the least likely risk to the fetus from a vacuum assisted delivery? — Options: a. Tentorial tearing / b. Fetal retinal injury / c. Facial nerve palsy / d. Scalp laceration / e. Fetal cephalohematoma / f. Brachial plexus injury / g. Subgaleal hematoma / The answer is C. / There are many direct complications that can result from vacuum extraction, ranging from minor ones like cephalohematoma (15%) and retinal injury (75%, but essentially all resolve by 4 weeks) up to major ones like subgaleal hemorrhage (2.5-4%) and intracranial hemorrhage (0.1%). However, brachial plexus injury is a complication of shoulder dystocia, which occurs more frequently in operative vaginal delivery (C p.696). 5 minutes of vacuum extraction carries an estimated risk of brachial plexus palsy of 0.8%, whereas 25 minutes carries a risk close to 4%. But the most important risk factor is shoulder dystocia.

C. Facial nerve palsy. Vacuum extraction causes scalp and subgaleal injuries, brachial plexus injuries, and intracranial hemorrhage as primary complications. Facial nerve palsy is characteristically associated with forceps delivery (compression of the facial nerve against the ramus of the mandible) rather than vacuum extraction. (Berghella Obstetrics 4e p.170)

Ligation of the internal iliac includes all of the following except? — Options: a. Superior gluteal / Superior gluteal is a branch of the posterior division of the internal iliac. The anterior division contains the obturator, umbilical, internal pudendal, inferior gluteal, uterine, and inferior vesical.

Superior gluteal artery is a branch of the POSTERIOR division of the internal iliac artery. Internal iliac artery ligation ties the anterior division, which perfuses the uterus, bladder, and vagina. The posterior division (and its branches including superior gluteal) remains patent, so gluteal blood supply is preserved after standard internal iliac ligation. (Creasy Study Guide p.438)

Patient has a vulvar hematoma s/p exploration and packing and blood transfusion. Now the — Options: patient is experiencing bright red vaginal bleeding through the packing. What is the next step? / a. Explore / b. Pack — no! / c. Embolize / Williams says to pack the vagina, not the vulva, but with subperitoneal and supravaginal hematomas need to go to laparotomy. Bleeding from above may be from retroperitoneal.

c. Embolize. An expanding vulvar hematoma above the fascia (suprafascial) that does not respond to pressure may require angiographic embolization. If hematoma is above the levator ani muscle, it may extend retroperitoneally where surgical drainage is difficult and embolization is the preferred approach for hemostasis. (Creasy Study Guide p.396)

What is decreased in pregnancy? — Options: a. Protein S / b. Protein C / c. Antithrombin-III / d. Fibrin / e. PTT / The answer is A. Decrease in S and XI; increase in VIII and X. Pregnancy, surgery, and inflammation reduce protein S levels. Protein S deficiency is rare (0.08% of the population).

A. Protein S (and also Factor XI) decrease in pregnancy. Pregnancy is a hypercoagulable state: factors VII, VIII, X, XII, fibrinogen, and vWF increase significantly, while Protein S decreases and Protein C remains unchanged or slightly increased. This shift favors clot formation and reduces fibrinolysis. (Creasy & Resnik MFM p.1279)

Which has clinically significant levels of factor X? — Options: a. Cryo / b. FFP / c. Whole blood / FFP has fibrinogen, factors 2, 5, 7, 9, 10, 11 / Cryo has fibrinogen, vWF, factors 8, 13

b. FFP (fresh frozen plasma). FFP contains fibrinogen and all coagulation factors (I/fibrinogen, II/prothrombin, V, VII, IX, X, XI) and is used to treat multiple factor deficiencies, DIC, and hemorrhage. Cryoprecipitate is richer in fibrinogen and vWF but lacks most other factors. (Berghella MFM Guidelines 4e p.183)

Which is most associated with thromboembolism? — Options: a. Protein S / b. Protein C / c. Factor V Leiden / d. Antithrombin III deficiency / e. Antiphospholipid antibody syndrome

Antithrombin III (AT III) deficiency has the highest relative risk for venous thromboembolism among inherited thrombophilias (relative risk approximately 5-50x). Factor V Leiden is the most common inherited thrombophilia but has lower relative risk. AT III deficiency is rare but confers the greatest per-patient risk of thrombosis. (ACOG/SMFM Obstetric Care Consensus #8 p.8)

Which is least useful in treating von Willebrand disease? — Options: a. DDAVP / b. Recombinant factor VIII / c. Platelets / d. Cryo

c. Platelets are least useful in von Willebrand disease (VWD). VWD is a disorder of the vWF protein, not primarily of platelets. Treatment includes DDAVP (desmopressin) for type 1, vWF/factor VIII concentrates (e.g., Humate-P), and cryoprecipitate (contains vWF). Platelet transfusion does not address the underlying vWF deficiency. (Berghella MFM Guidelines 4e p.183)

Most likely cause of intravascular volume depletion in preeclampsia? — Options: a. Capillary leak / b. Decreased colloid oncotic pressure / c. Hypertension / Both A and B are true, so not sure…

a. Capillary leak. In preeclampsia, endothelial dysfunction causes increased vascular permeability (capillary leak), resulting in intravascular volume depletion despite edema. This explains the paradox of edema with decreased intravascular volume, hemoconcentration, and the risks of pulmonary edema with aggressive fluid administration. (Creasy & Resnik MFM p.1066)

What is associated with preeclampsia? — Options: a. Cellular fibronectin / b. Thromboxane / Cellular fibronectin increases. There is no change in thromboxane. There is a decrease in prostacyclin and a subsequent decrease in the prostacyclin/thromboxane ratio.

a. Cellular fibronectin increases (marker of endothelial damage) and the prostacyclin/thromboxane ratio decreases (prostacyclin is vasodilatory and anti-aggregatory; thromboxane is vasoconstrictive and pro-aggregatory). Together these changes reflect the endothelial dysfunction characteristic of preeclampsia pathophysiology. (Creasy & Resnik MFM p.1066)

Least likely with preeclampsia? — Options: a. Increased BUN / b. Increased Cr / c. Decreased tubular secretion / d. Decreased renal plasma flow / e. Decreased GFR / No idea what the answer is…

a. Increased BUN is NOT typically expected in preeclampsia. BUN may be normal or only mildly elevated. Expected renal findings in preeclampsia include increased serum creatinine (normal pregnancy creatinine is lower), decreased GFR, decreased renal plasma flow, and glomerular endotheliosis on biopsy. (Creasy & Resnik MFM p.1066)

Oxidative stress is important in the pathophysiology of which? — Options: a. GDM / b. PPROM / c. PTL / d. Abruption / e. Preeclampsia / C&R 6th ed p. 666

e. Preeclampsia is the obstetric condition most strongly associated with oxidative stress. Excess reactive oxygen species from hypoxic placental tissue cause lipid peroxidation and endothelial dysfunction, central to the pathophysiology of preeclampsia. This underlies the rationale for antioxidant therapy (though trials have not shown benefit). (Creasy & Resnik MFM p.1066)

Least likely to see with cholestasis of pregnancy — Options: a. Oligo / b. Nonreactive NST / c. Others / Fetal complications in cholestasis: PTL, meconium, asphyxia, IUFD. Not sure about the answer…

a. Oligohydramnios is NOT classically associated with intrahepatic cholestasis of pregnancy (ICP). The classic associations of ICP are: preterm labor, meconium passage, fetal asphyxia, and intrauterine fetal death (especially with bile acids >= 40 umol/L). Oligohydramnios is not a typical feature of ICP. (Creasy Study Guide p.540)

Most important factor in development of fetal hydantoin syndrome — Options: a. Dosage / b. Other medications / c. Genetic polymorphisms / Most important factor in fetal hydantoin syndrome is polytherapy vs. monotherapy

Fetal hydantoin syndrome risk is increased by polytherapy (multiple anticonvulsants) compared to monotherapy, and is influenced by genetic polymorphisms in epoxide hydrolase, which metabolizes the toxic arene oxide intermediate of phenytoin. Slow metabolizers (low enzyme activity) accumulate more toxic metabolites, increasing teratogenic risk. (Creasy Study Guide p.263)

What drug stays around in the maternal system the longest? — Options: A. Etretinate — 2 years / B. Coumadin

A. Etretinate. Among the retinoids, etretinate (an aromatic retinoid used for psoriasis) has an extraordinarily long half-life of approximately 80-120 days (mean approximately 2 years), due to storage in adipose tissue. Teratogenic risk persists for up to 2 years after discontinuation, requiring extended contraception. (Berghella Obstetrics 4e p.26)

What drug is commonly associated with microtia? — Options: A. Isotretinoin

A. Isotretinoin. Isotretinoin (13-cis-retinoic acid) is one of the most potent human teratogens, causing a characteristic embryopathy including microtia/anotia (small or absent ears), micrognathia, CNS malformations (hydrocephalus), conotruncal cardiac defects, and thymic aplasia. Exposure during organogenesis causes this pattern. (Clinical Obstetrics: Fetus & Mother 4e p.308)

Which is most important in counseling after teratogen exposure? — Options: a. Dosage / b. Timing of exposure

b. Timing of exposure. The most critical factor in determining teratogenic risk is the timing of drug or toxin exposure relative to organ development. The embryonic period (weeks 3-8 post-conception) is the period of greatest susceptibility. Exposure before implantation typically causes all-or-none effect; after organogenesis, functional defects rather than structural malformations occur. (Creasy Study Guide p.263)

What is not associated with calcifications in the fetal abdomen? — Options: A. Toxoplasmosis / B. CMV / C. Parvo / D. Meconium / E. Cystic Fibrosis / Fetal abdominal calcifications: normal birth (66%), multiple malformations (7%), preterm birth (6%), significant chromosomal anomaly (4%), fetal growth restriction (4%), cystic fibrosis (3%), CMV or parvovirus infection (3%), intraamniotic bleeding (3%), unexplained fetal death (2%), and preeclampsia (1%)

C. Parvovirus B19. Parvovirus is NOT typically associated with fetal abdominal calcifications; its primary effects are hydrops fetalis from fetal anemia. Intra-abdominal calcifications are associated with: CMV and toxoplasmosis (intrahepatic/intracranial), meconium peritonitis, cystic fibrosis, and bowel atresia. (Fetology 2e p.458)

What is a common finding with Trisomy 21 on sono at 18-20 weeks? — Options: A. Nuchal edema

A. Nuchal edema (thickened nuchal fold >= 6 mm at 15-22 weeks). In the second trimester, nuchal edema (thickened nuchal fold) is the single most predictive ultrasound soft marker for trisomy 21, with a likelihood ratio of approximately 11-17. It reflects impaired lymphatic drainage associated with Down syndrome. (Berghella Obstetrics 4e p.83)

Worst prognosis with CCAM? — Options: a) hydrops / b) cardiac axis deviation / ¢) solid vs. cystic / d) polyhydramnios / C&R 6" ed p. 267

a) Hydrops. The most important adverse prognostic factor in congenital pulmonary airway malformation (CPAM/CCAM) is the development of hydrops fetalis, which results from mediastinal shift causing cardiac compression and impaired venous return. Hydrops in the setting of CCAM is associated with high mortality without intervention. (SMFM Consult Series #75 p.18)

With normal karyotype and NT = 4 mm, what is most likely diagnosis? — Options: a. Cystic hygroma / b. Aneuploidy / c. Cardiac anomaly / d. Normal / With normal karyotype: / NT 3.5-4.5 mm: 90% of the time is normal / NT 4.5-6.4 mm: 80% of the time is normal / NT >6.5 mm: 45% of the time is normal / Single umbilical artery most likely associated with: / a. Hydronephrosis / b. VSD / c. Abdominal wall defect / d. Normal

d. Normal outcome (approximately 90% of the time). A nuchal translucency of 3.5-4.5 mm with a confirmed normal karyotype on amniocentesis is associated with a normal fetal outcome in approximately 85-90% of cases. The risk of structural cardiac defects is increased, so fetal echocardiography is warranted, but most will be normal. (Creasy & Resnik MFM p.338)

What findings are consistent with a term infant? — Options: A. Foot crease 1/3 of the way up / B. Scrotal rugae / G Vernix / Mature newborn has parchment/leather skin, very little lanugo, crease over whole sole, full areola of / 5-10 mm, a stiff ear, deep rugae/majora covers clitoris and minora / 125 What syndrome has coarctation of the aorta? / @) Turners / - Marfans / C. Tetrology of Fallot

B. Scrotal rugae. A term male infant has deeply rugated scrotal skin (coarse rugae covering the entire scrotum) with descended testes. In preterm infants, the scrotum has smooth skin with few rugae and undescended testes. Other term maturity signs include thick, cracked skin; plantar creases over the entire sole; full-areola breast nodules; and firm ear cartilage. (Berghella Obstetrics 4e p.70)

What condition with cystic fibrosis carries the worst prognosis? — Options: A. Cor pulmonale / B. Recurrent pneumonia/frequent pulmonary infections / C. Pancreatitis / D. Diabetes / E. Need for treatment with pancreatic enzymes / The answer is A. / Pregnancy can have a deleterious effect on cystic fibrosis. Reduction in pulmonary function testing during pregnancy is not uncommon, but lung function in most patients returns to normal within 6 months of delivery. Multiple studies have documented an increased risk of death during pregnancy in patients with reduced FEV1. Cor pulmonale (right heart failure) is considered predictive of a worse prognosis in pregnancy (C p.968-970). Poor nutritional status, cor pulmonale, pulm HTN, decreased function — worst prognosis (Creasy p.947).

A. Cor pulmonale. The leading cause of death in cystic fibrosis is respiratory failure with cor pulmonale (right heart failure secondary to chronic hypoxic pulmonary vasoconstriction from progressive obstructive lung disease). Lung disease causes pulmonary hypertension, right ventricular failure, and ultimately death from cardiorespiratory failure. (Berghella MFM Guidelines 4e p.76)

What maternal cardiac disease is associated with a poor prognosis? — Options: A. MS 16% / B. VSD with right to left shunt = Eisenmenger = 25-50% mortality / C. AS 15% / D. Marfan's with a normal aortic root 15%

B. VSD with right-to-left shunt (Eisenmenger syndrome). Once pulmonary hypertension reverses the shunt to right-to-left in Eisenmenger syndrome, maternal mortality in pregnancy is approximately 25-50%. This is one of the highest-risk cardiac conditions in pregnancy, and termination of pregnancy is strongly recommended in affected women. (Creasy & Resnik MFM p.1252)

Worst prognosis for next pregnancy after peripartum cardiomyopathy in prior pregnancy? — Options: a) Low EF @ 12 weeks / b) HTN @12 weeks / c) Others

a) Low ejection fraction at the time of diagnosis (EF < 30-35%). In peripartum cardiomyopathy, the strongest predictor of poor prognosis and failure to recover function is a severely depressed EF at presentation. Failure of EF to normalize within 6 months indicates persistent dysfunction and increased risk of death or transplant. (Berghella MFM Guidelines 4e p.45)

Which has the best prognosis/lowest maternal mortality? — Options: A. Corrected Tetralogy of Fallot / B. Marfan's syndrome with a normal aortic root / C. Pulmonary hypertension / D. Mitral stenosis / The answer is A. / Maternal cardiac conditions that lead to increased risk in pregnancy are as follows: / Aortic stenosis 10-20% mortality / Coarctation of the aorta 5% / Eisenmenger syndrome 30-70% / Marfan's syndrome 25-50% / Mitral stenosis 14-17% / Peripartum cardiomyopathy 15-60% / Primary pulmonary hypertension 25-50% / Tetralogy of Fallot 12% corrected, <1% / The only one of these that carries a lower risk of maternal mortality than a corrected Tet is coarctation of the aorta (C p.816). With normal aortic root the rate of aortic dissection is 1-3% and there are also risks of intracranial aneurysms. Circulation. 2009; 119: 619-623

A. Corrected Tetralogy of Fallot. Women with surgically repaired (corrected) tetralogy of Fallot generally tolerate pregnancy well, with maternal mortality of less than 1%. Uncorrected cyanotic heart disease carries substantially higher risk. The key issues post-repair are residual pulmonary regurgitation, arrhythmias, and right ventricular dysfunction. (Creasy Study Guide p.706)

The use of valproic acid carries what risk of NTD? — Options: A. 1-2%, most are lumbosacral / B. 5-10% / C. 15-20% / D. 50%

A. 1-2%, most are lumbosacral (lumbar/sacral). Valproic acid (valproate) increases the risk of open neural tube defects (primarily lumbar or lumbosacral spina bifida) to approximately 1-2% (compared to background of 0.1-0.2%). High-dose folic acid (4-5 mg/day) supplementation is recommended but may not fully prevent this risk. (Creasy & Resnik MFM p.585)

What is the most common cause of a low Apgar score in a nonhypoxic 26 weeker? — Options: A. Prematurity / B. Acidosis / C. Sepsis / D. Chromosome abnormality / E. Magnesium administration / F. Lack of steroid administration prior to delivery / G. Pregnancy induced hypertension / The answer is A. / The Apgar score was developed for infants at term, and low Apgar scores can occur in infants under 1500g or under 32 weeks in the absence of asphyxia (C p.1264). / Hemoglobin dissociation curve — 3 questions. See Williams page 992, figure 42-3.

A. Prematurity. The leading cause of a low Apgar score in the absence of asphyxia is prematurity. Preterm infants have physiologically lower tone, weaker cry, and slower reflex development, all contributing to lower Apgar scores even without birth asphyxia. Other causes of low Apgar not due to asphyxia include medications, neuromuscular disorders, and congenital abnormalities. (Berghella Obstetrics 4e p.70)