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Homozygous Gene
Genes carrying similar traits (DD, dd)
Heterozygous Gene
Genes carrying dissimilar traits (Dd)
Autosomal Dominant
Pattern of inheritance where the gene doesn't skip generations and there is a 50% chance of expressing the trait. Example:Huntington's disease.
Autosomal Recessive
Pattern of inheritance where the gene skips a generation and there is a 25% chance of expressing the trait. Both parents must be carriers. Examples:Sickle Cell, Cystic Fibrosis.
X-linked Dominant
Pattern of inheritance where the gene doesn't skip generations. If the father has it, all daughters have it. If the mother has it, children are carriers. Example:Vitamin D Resistant Rickets.
X-linked Recessive
Pattern of inheritance more common in mother to son due to being X-linked. Examples:Colorblindness, Muscular Dystrophy.
Multifactorial
Non-Mendelian inheritance due to a combination of genetics and environment.
Monosomy
One allele missing.
Trisomy
One extra chromosome. Example:Trisomy 21 = Down Syndrome.
Fetal Movements
"Kick Counts". Count for 1 hour after a meal. If less than 3 movements in 1 hour or no movement in 12 hours, it is considered bad. Done after 24 weeks but regularly after 28
Ultrasound (US)
In the 1st Trimester: Used to determine fetal number, size, estimated due date, abnormalities, and gestational age.
In the 2nd Trimester: Determines viability, GA, growth, abnormalities, placenta location, amniotic fluid volume
Later pregnancy = abdominal
Earlier pregnancy = transvaginal
Doppler Blood Flow Analysis
Measures blood flow through the fetus and placenta. S/D ratio should be 3 or less at 30 weeks. Higher values indicate placental insufficiency.
Used in patients w/ HTN, diabetes, IUGR, preterm
MRI
not very helpful due to fetus moving around
Multiple Marker Screen
Screens for Down Syndrome and Neural Tube Defects by using MSFAP markers
Low MSFAP + high hCG = Down Syndrome
High MSFAP = Neural Tube Defects
Done at 16-18 weeks
Nuchal Translucency
Screens for Down Syndrome by measuring the amniotic fluid behind the neck. A measurement greater than 3mm at 11-14 weeks is considered abnormal.
Cell-Free DNA Screening
Separates fetal blood from maternal blood to screen for Down Syndrome, Trisomy 13, and Trisomy 18.
Chorionic Villus Sampling (CVS)
Taking a sample of the placenta (10-13 weeks)
Risks: SAB, bleeding, PROM, cramping, fever (> 100.4)
Give Rhogham
Amniocentesis
Taking a sample of amniotic fluid (14 weeks)
Risks: bleeding, cramping, decreased fetal movement, fever
(>100.4)
Give Rhogham
Percutaneous Umbilical Sampling
Taking blood from the umbilical vessel to test for blood disorders, karyotyping, or anemia. 1-4cc of blood is removed.
Give Rhogham
Biophysical Profile (BPP)
Tests for fetal well-being using the acronym GRAFF (Gross body movement, Reactive HR, Amniotic fluid volume, Fetal breathing, Fetal tone). A score of 8-10 is normal, 4-6 requires further evaluation, and 0-2 requires immediate delivery.
Non-stress Test (NST)
Tests fetal response to movement. A normal reactive test shows accelerations in fetal heart rate 2 times in 20 minutes.
An abnormal response shows no accelerations in 40 minutes
If the fetus is 32 weeks or older, acc = 15 bts/15 secs
If less than 32 weeks, acc = 10 bts/10 secs
Vibroacoustic Stimulation
Tests fetal response to sound waves if the NST is non-reactive. Done after 32 weeks.
3 secs, up to 3 times qmin. No reaction can mean baby is asleep
Contraction Stress Test (CST)
Tests fetal response to contractions. Need 3 contractions lasting 40 seconds in 10 minutes. A normal test shows no decelerations.
Abnormal is positive, late decels → give O2, change position
Done on patients who are high risk (IUGR, HTN, DM, Preterm)
Two types Spontaneous & Oxytocin
Preterm Labor
Labor that occurs before 37 weeks of gestation. Risk factors include infection, high parity, history of preterm birth, premature rupture of membranes (PROM), uterine anomalies, obesity, poor nutrition, bacterial vaginosis, and twins.
S/S: Cramping, low back pain, vaginal discharge, FFN → if positive, then at risk for preterm delivery
Fetal Risk: Low birth weight, resp. distress, hypoxia
Tx: Tocolytics
Tocolytics
Medications used to slow down labor and relax smooth muscles. Examples include Terbutaline, Magnesium Sulfate, and Nifedipine.
Terbutaline
Given subq
ADR: Tachycardia, hypotension, CP, pulmonary edema
Interventions: measure HR and lung sounds before + after (if pulse > 120, no more doses)
Antidote: propranolol
Magnesium Sulfate
Given IV
Side effects: headache, flushing, fatigue
Toxicity: resp depression + decreased tendon reflexes
Therapeutic lvl: 4-7.5 mEqL
Antidote: calcium gluconate
Nifedipine
Given PO
DON’T GIVE WITH MgSO4 or Terbutaline
Antihypertensive + improves contractility
Beta/Dexamethasone
Given IM at 24-34 weeks to increase L/S ratio (2:1)
1 dose q24 hours. Considered completer 24 hrs after 2nd dose
PAINFUL
PROM
Premature rupture of membranes, where the amniotic sac ruptures at least 1 hour before the onset of labor.
Pprom: rom < 37 weeks
Diagnostics: fluid pooling, ferning, pos nitrazine
Care: Monitor for infection (fetal tachy, fever, odor, tender abdomen), give antibiotics, monitor for labor
NO VAG EXAMS
Precipitous Birth
Labor that lasts less than 3 hours from the onset of contractions to birth.
Maternal Risk: Uterine rupture, hemorrhage, perineal tears
Fetal Risk: decreased O2, bruising, bleeding
Tx: Terbutaline, turn patient L side lying
Dystocia
Long, dysfunctional labor. Multifetal Pregnancy Dystocia is a risk factor for PROM, preterm delivery, and cesarean section in the mother, and for intrauterine growth restriction and entanglement in the fetus.
Vag delivery can only be done if one twin is vertex and larger than the other OR if they are >32 weeks + 2000 g
Breech Presentation Dystocia
When the baby is positioned buttocks or feet first. External version can be done to manually turn the baby around from the outside.
Done at 37 weeks
Use tocolytic, Ultra sound, and monitor FHR
Need Rhogham
Induction
The process of starting labor artificially.
Bishop Score
Want score above 9 to start labor
Score <6 needs cervical ripening
Cervical Ripening
Chemical: prostaglandin (Misoprostol/Cytotec), max 6 doses
Mechanical: balloon pump instead in cervix to mimic dilation
AROM + Pitocin
Contraindications for Induction
Herpes infection, vertical uterine incision, placenta previa, malpresentation, cephalic pelvic disproportion (fetal head won’t fit)
Forceps Assisted Birth
Indications: Maternal exhaustion, fetal distress, fetus at 2+ station
Risks: fetal skull/neck injury, bruising, laceration, hematoma
Epidural recommended
Vacuum Assisted Birth
Same indications as forceps
Risks: Scalp injury, hematoma (less traumatic)
Monitoring: FHR, jaundice, anemia, hyperbilirubinemia NO MORE THAN 3 pops off → OR
C-section
Indications: Mother is a repeat c-section, fetal distress
Complications: bleeding, infection, injuries, resp. depression (from anesthesia)
Risk of uterine rupture if attempt to deliver vaginally after c-section. MD and OR must be available
Interventions: Preop → NPO for 6hrs, IV patency, FHR, Bicitra & Postop → monitor v/s, uterine atony, blood loss
Post-Term Preg
Birth occurs after 42 weeks
Risks: Large fetus, postmaturity syndrome, meconium aspiration syndrome → pneumonia risk
Tx: Non-stress/contraction stress test + Amnioinfusion
Shoulder Dystocia
Unable to pass shoulders
Interventions: McRoberts Maneuver, Suprapubic Pressure, Gaskin Maneuver
Monitor how long head has been delivered
Umbilical Cord Prolapse
Cord comes out first and is being compressed
Shout for help → help patient to hands and knees → put on glove and maintain pressure off the cord → C-section
Uterine Rupture
Uterus ruptures and is now in abdominal cavity
Risk factors: Hx of c-section, multip, anatomical defect, twins
Tx: C-section
Uterine window: uterine wall is so thin that it’s see through
Amniotic Fluid Embolism
Anaphylactoid Syndrome
Risk Factors: eclampsia, precipitous birth
S/S: pulmonary edema, SOB, coughing, LOC changes, hypotension, frothy bloody sputum, possible DIC
First Action: give O2 and call for help
Gestational HTN
2 high BP readings after 20 weeks
Preeclampsia
High BP reading after 20 weeks + other symptom
Risk Factors: Hx chronic HTN, high parity, smoking, diabetes, race
Mild: BP 140/90, elevated protein, mild headache, edema to hands + face
Severe: Bp 160/110, elevated protein + creatinine, persistent headache, general edema, visual changes, epigastric pain
HELLP: Hemolysis, Elevated Liver enzymes, Low PLTs
Risks: SGA, preterm, fetal demise, hypoxia, maternal acute kidney injury
Tx: Monitor fetus (NST, BPP, kick counts), MgSO4 (prevents seizures, therapeutic range 4-7.5), Antihypertensive (hydralazine, labetolol), Bed rest, L side lying, Induction (34 weeks for severe, 37 for mild)
Eclampsia
Seizures w/ preeclampsia and no Hx of seizures
Tx: Induction (vaginal delivery if >30 weeks and competent cervix, otherwise c-section)
MgSO4 + seizure precautions
Chronic HTN
high BP before 20 weeks, persists >12 weeks PP
Tx: antihypertensives, low sodium
Chronic HTN w/ Superimposed Preeclampsia
High BP + preeclampsia s/s before 20 weeks & low PLTs, elevated protein, elevated LFTs
SAB
Pregnancy that ends before 20 weeks or <500g
Early = <12 weeks, Late = 12-20 weeks
Give rhogham for all if mother is Rh -
Threatened: light bleeding + cramping, no tissue passage or dilation
Inevitable: moderate bleeding + cramping, tissue passage and dilation
Incomplete: heavy bleeding + cramping, retained tissue passage, dilated
Complete: light bleeding + cramping, All tissue passed, cervix closed
Missed: fetal death (no expulsion), light bleeding, decreased size of preg
May need uterine evac, risk for DIC
Septic: pain, odorous/cloudy blood, monitor fetal status and for septic shock
More common in incomplete and missed AB
Incompetent Cervix
Painless dilation during 2nd trimester
D/t: Hx of cervical laceration, uterine or cervical anomalies, being a DES daughter
s/s: leaking fluid, fetal parts in vagina, bulging water membrane
Prophylactic Cerclage: stitching cervix to keep it closed before term. Done in 1st trimester.
Ectopic Pregnancy
Implantation of fertilized ovum outside of uterus
Risk Factors: Hx ectopic pregnancy, progesterone IUDs, smoking, uterine masses
s/s: adenexal pain (near ovaries), referred shoulder pain, shock (d/t rupture + bleeding)
Tx: transvaginal US (if hCG not btwn 1500 - 1800 = ectopic) progesterone level <5 = ectopic, surgical removal, methotrexate (IM injection, prevents cell growth)
Hydatidiform Mole
Abnormal fertilization of ovum
Complete Mole: sperm duplicates itself in ovum → NO FETAL PARTS, FHR, OR FM, size >GA, grape-like vesicles
Partial Mole: 2 sperm fertilize ovum → Some fetal parts
General s/s: abnormally high hCG, preeclampsia, snowstorm US
Tx: D+C, pregnancy contraindicated for 1yr, NEED RHOGHAM
Placenta Previa
Placenta is the presenting part, implanted lower
Risk factors: multip, AMA, multi-fetal pregnancy
s/s: painless BLEEDING, high fetal placement
Tx: expectant mngmt, NO VAG EXAMS
Pt ed: no sex, nothing up vag, go to ER if bleeding
Placental Abruption
Placenta detaches early
Risk Factors: HTN, AMA, Hx of abruption, short umbilical cord
s/s: Triad (external/occult bleed, toned uterus, fetal distress), PAIN, decreased FM
RISK FOR DIC so monitor coag status
Tx: <36 wks → expectant mngmt, Term → DELIVERY
Cord Insertion
Vasa Previa: cord is inserted into the membrane of placenta, not the tissue
Battledore: cord inserts on the side, NOT THE MIDDLE.
DIC
Triggered by placenta abruption, amniotic fluid embolism, severe preeclampsia/HELLP syndrome, sepsis
Substance Use
Tx: Group care, more visits, meds to reduce use of substances
Considerations: what pain meds pts can be given during birth, neonatal withdrawal, breastfeeding concerns, 51-a filing (state will investigate situation)
Preexisting Conditions
Class A1 diabetes = diet controlled; Class A2 diabetes = insulin controlled
Early preg = less insulin, Later = more insulin
Pregestational Diabetes
Goal is HgbA1C <6 before preg
Risks: macrosomia → PPH, preeclampsia, gestational HTN, hypoglycemia (<65), hyperglycemia (>200)
Routine Screening: eye exam, kidney exam, HgbA1C checks
Care: limit carbs, ketonuria monitoring, meals before breastfeeding, fetal monitoring
Glucose: normal is 65 -120 (may need insulin drip during labor). >140 = DO GTT test (also a routine test)
Exercise: 15-30 mins (increases insulin sensitivity) so measure glucose before + after
Gestational Diabetes
risks and care same as pregestational. Only difference is that glucose levels will return to normal w/in 24 hrs postpartum.
Do 2hr-GTT 6wks postpartum
Hyperemesis Gravidarum
Prolonged vomiting with weight loss (>5%), dehydration, and electrolyte imbalance
Tx: antiemetics, antihistamines (reduce vomit center activity), steroids, small frequent meals, eat before getting up, bland foods → Risk for LBW baby
Hypothyroidism
Risks: miscarriage, stillbirth, LBW, preeclampsia
Tx: Levothyroxine + Iron (GIVE AT DIFFERENT TIMES, iron blocks absorption of other med)
Hyperthyroidism
Same as hypothyroidism
Tx: PTU, Methimazole, fluids, O2, Iodine
Thyroid Storm: hyperthermia, tachycardia, altered LOC (agitated, restless), vomiting, HTN
Maternal Phenylketonuria
Inability to breakdown phenylalanine due to enzyme deficiency
Fetal Risks: LBW, seizures, microcephaly, neuro delays
Tx: low protein diet, normal Phenylalanine level (<6mg/dL; measure weekly), Breastfeeding (held off until parents tested and then supplemented w/ phenylalinine)
CV Disorders
Risks:HF, preterm birth, IUGR, death
Tx: antihypertensives, stool softener, side-lying position, HOB elevated, ASSISTED DELIVERY, NO METHERGINE OR TERBUTALINE, Monitor decompensation: d/t fluid shift → lung sounds, edema, HR, SOB
Iron Deficiency Anemia
Take iron supplement, iron-rich foods, stool softener
Sickle Cell Anemia
IV fluids, opioids, O2
Asthma
Most common respiratory issue. Tx:Albuterol, monitor FHR, give epidural
CF
Monitor FHR, lung function, and infection. Give epidural
Pruritus Gravidarum
Limited to abdomen, use antihistamine/anti-itch cream
PUPPP
Use antihistamine, anti-itch, and steroid
Intrahepatic Cholestasis
Itching of hands and feet due to elevated serum bile → Med is Ursodiol
Epilepsy
Care:Anticonvulsants, seizure precautions, folic acid supplements
MS
Remission during pregnancy! Care:Vitamin D, epidural use, may have gait difficulties post-partum
Bell Palsy
Unilateral facial weakness, difficulty closing eye, pain around ear
Care: preventing eye injury, facial muscle massage
Lupus
Care:Steroids, limit pregnancies, follow-up with rheumatologist
Myasthenia Gravis
Care:Steroids, assisted vag delivery (due to muscle weakness)
Can’t use MgSO4 due to toxicity → use keppra
HIV
Transmission:If high maternal load, prolonged ROM, chorioamnionitis
Care: DELIVER VIA C/S BEFORE ROM, monitor for infection, Treat other STDs, newborn bath ASAP, nothing up vagina, no breastfeeding, Use Zidovudine (antiretroviral)
UTIs
Antibiotics → s/s:dysuria, pain, urinary frequency/urgency, CVA tenderness, fever, chills
Surgery
Should be delayed, but if emergent → best done in 2nd trimester
Appendicitis
Often confused with early pregnancy symptoms. Care = appendectomy + antibiotics
Trauma
From MVA, partner, GSW, stab, falls
Risk: miscarriage, preterm labor, PROM, hemorrhage, uterine rupture
Assess + stabilize mother FIRST (bleeding, contractions)
Code Order: call code → uterine displacement → CPR (if non responsive for 4-5min) → assess FHR → c/s