Teratogens (boards) UPDATED

Mom with insulin-dependent diabetes (T1), A1C of 9 (present from the start)

Sacral agenesis, caudal regression syndrome, neural tube defects, transposition of the great vessels

Critical Period: increased effect in first trimester if uncontrolled (increased maternal glucose + insulin does not cross placenta but glucose does, fetus makes more insulin to control increased glucose, hyperglycemia affects placenta)

Mom with gestational diabetes (develops later in pregnancy)

Macrosomia, LGA, hypoglycemia

Mom with obesity

"Double CHIN" = Cleft lip/palate, Heart defect, Neural tube defect risk approximately doubles

Mom with PKU

Maternal PKU - Petite (body and head size), Kardiac defect (ToF), IQ Under 70

Critical Period: first trimester

Advanced maternal age

Full autosomal trisomies (NOT mosaic or partial)

Young maternal age

Gastroschisis

Critical exposure time 8-12weeks

Maternal hyperthermia

ONTD

Maternal thyroid disease (Grave’s disease)

Fetal hyperthyroidism

Alcohol

#1 preventable cause of ID

Face (short palpebral fissures, epicanthal folds, thin upper lip, smooth philtrum)

Altered CNS development (DD/ID, behavior)

Small (body and head (microcephaly).

Ddx: Down syndrome (epicanthal folds, short stature, DD/ID)

Critical Period: throughout pregnancy

Nicotine

Mother who smokes during pregnancy

Preterm birth, IUGR, Cleft lip/palate, placental abruption, placenta previa

Critical Period: throughout pregnancy

Isotretinoin (Accutane)

Mom with severe acne (retinoic acid)

Isotretinoin Is a teratogen & treats "ACCNE" = Absent immune system (due to thymic hypoplasia), Cardiac defect, Cleft palate, Neuro malformation (hydrocephalus, microcephaly), Ear anomalies

Critical Period: 1st trimester (2-5 weeks post conception; 1/3 SAB)

Thalidomide

Mom with morning sickness (<1965) or leprosy

Limb defects (tha'limb'domide): phocomelia (hands/feet attached to trunk)

Critical Period: 1st trimester (3-6 weeks post conception)

Valproic Acid

Mom with history of seizures from epilepsy, takes anticonvulsant

Neural tube defects (spina bifida: myelomeningocele), cleft lip/palate, CHDs (ASD), dev delay

Critical Period: 1st trimester (2-9 weeks post conception; dose-dependent)

Phenytoin

Mom with history of seizures from epilepsy, takes anticonvulsant

Cleft lip/palate, wide anterior fontanelle, microcephaly, distal phalange hypoplasia ("phunny toes"), cardiac abnormalities (pulmonary & aortic stenosis)

Critical Period: 1st trimester (2-9 weeks post conception; dose-dependant)

Carbamazepine

Mom with history of seizures from epilepsy, takes antiepileptic drug

Craniofacial defects, fingernail hypoplasia, and developmental delay

Critical Period: 1st trimester (2-9 weeks post conception; dose-dependent)

Trimethadione

Mom with history of seizures from epilepsy, takes antiepileptic drug

Malformed ears, cleft palate, cardiac defects, urogenital malformations, and skeletal abnormalities

Critical Period: 1st trimester (2-9 weeks post conception; dose-dependent)

Methimazole

Mom with hyperthyroidism, takes anti-thyroid drugs

Aplasia cutis of the scalp (if also limb defects, think Adams-Oliver syndrome), congenital hypothyroidism

Critical Period: after 10 weeks

Lithium

Mom with bipolar disorder like schizophrenia, takes mood stabilizer

Ebstein's anomaly (Atrialization of the right ventricle, R-sided heart defect). Lithium = "Lite-hearted", neonatal hypotonia, kidney and thyroid impairment

Critical Period: 1st trimester (2-9 weeks post conception)

Losartan/Lisinopril

Mom with high blood pressure, takes antihypertensive medication (ACE inhibitors)

Renal agenesis causing Amniotic fluid depletion -> Limb development issues, hypoplastic facies (Potter sequence)

'Low'sartan causes "Low" amniotic fluid volumes. Any med that ends in "-pril" (captopril, lisinopril) or "-sartan" (valsartan, losartan) can cause low amniotic fluid volume. These medications reduce blood flow to the maternal and fetal kidney

Critical Period: 2nd-3rd trimester

Atorvastatin

Mother with high blood cholesterol levels, takes to lower cholesterol (statin)

No strong association with fetal malformations

Methotrexate

Mom being treated for rheumatoid arthritis (folic acid antagonists, affects folate synthesis)

Miscarriage, neural Tube defects (MethoTrexate) meningoencephalocele, anencephaly

Critical Period: 1st trimester (4-12 weeks)

Trimethoprim-Sulfamethoxazole

Mom with simple UTI during early pregnancy

Neural Tube defects

Aminoglycoside

Mom was given an injectable antibiotic for a resistant UTI during early pregnancy. Mom develops hearing loss, then baby fails newborn hearing screen.

Hearing loss

Tetracycline (eg doxycycline)

Mom bitten by a tick while hiking & took antibiotics out of precaution

Baby with tooth discoloration (grey, brown) once the teeth erupt ("Teeth"racycline)

Ddx: dentinogenesis imperfecta and amelogenesis imperfecta (enamel)

Critical Period: 2nd-3rd trimester (4th-5th month)

Toxoplasmosis

Mother eats raw meat or handles cat feces during pregnancy, gets parasite (TORCH)

Hydrocephalus, intracranial calcifications, seizures

Critical Period: 1st trimester

Varicella

Mom is unvaccinated and gets chickenpox during pregnancy (TORCH) (vaccination NOT safe during pregnancy)

Hydrocephalus, short limbs (hypoplastic extremeties), skin scarring on arms and legs

Critical Period: 1st-2nd trimester (8-20 weeks)

Parvovirus

Mother has a viral infection during pregnancy (TORCH)

Anemia, hydrops (affects liver) “slapped cheek rash”

Critical Period: 1st trimester

Syphilis

Mother gets bacterial sexually transmitted infection (TORCH)

The S's of congenital Syphilis: Snuffles (nasal discharge), craniofacial (Saddle nose, Short maxilla), "Smile" (dental anomalies like Hutchinson notched teeth, mulberry molars); Saber shins (bowing of tibia); Sensorineural deafness

60-90% asymptomatic at birth

Critical Period: 1st-2nd trimester

Rubella

Mom gets viral infection that causes rash, lymphadenopathy, & joint pain during pregnancy (TORCH) (vaccination okay during pregnancy)

Triad of cataracts (Rubella= "Rub" your eye), salt and pepper retinopathy, cardiac malformation (PDA; "heaRt beat" in Rubella), and deafness (can't hear a "bell" ring in Rubella), hepatosplenomegaly (ru'belly'), blueberry muffin rash

Critical Period: 1st trimester (4-6 weeks)

Cytomegalovirus (CMV)

Mom is asymptomatic or has mono-like illness/cold (TORCH)

Periventricular cerebral calcifications ("Calcify My Ventricles"), seizures, hearing loss, chorioretinitis ("sight-o-megalovirus")

15% ASYMPTOMATIC INFANTS AT BIRTH WILL HAVE NEURO ABNORMALITIES

Critical Period: 1st-2nd trimester (1/3 maternal infections transmitted to fetus)

Herpes (HSV)

Mother with a history of genital herpes (TORCH)

Neonate with encephalitis and temporal lobe hemorrhage, liver and lung damage, skin lesions AFTER BIRTH, NO PRENATAL ISSUES

Critical Period: exposure during vaginal delivery

Zika

Mother with fever, joint pain, rash, during travel to Brazil

Severe microcephaly

(Zika = BraZil)

Methylmercury

Mother eats mercury contaminated fish during pregnancy

Brain damage (minamata disease), severe CNS impairment, muscle weakness, seizures, deafness, blindness, microcephaly Minamata

Critical Period: 1st trimester (2-5 weeks)

Radiation

Microcephaly, IUGR, ocular defects, ID, late cancers, large doses=death

Critical Period: 1st trimester (2-5 weeks, but affects fetus throughout pregnancy)

Warfarin

Mother has blood clots, takes it as a blood thinner

Nasal hypoplasia, stippled epiphysis, skeletal abnormalities (distal limb hypoplasia), IUGR, CNS malformations, ID, optic atrophy, fetal hemorrhage

Critical Period: 1st trimester (6-9 weeks)

SSRIs

Mother takes for depression

Neonatal jitteriness, irritability, respiratory distress

Critical Period: 1st trimester