Teratogenic Exposure – 25 Hard Case-Based MCQs

1. A 22-year-old pregnant woman (7 weeks) with epilepsy is on valproate. Her ultrasound at 18 weeks shows a severe neural tube defect. What is the most likely mechanism?
A. Disruption of cardiac neural crest migration
B. Impaired folate-dependent DNA synthesis
C. Oxidative stress on placental villi
D. Inhibition of thyroxine synthesis
Correct Answer: B
2. A 30-year-old woman accidentally undergoes CT abdomen delivering 15 mGy exposure at 5 weeks gestation. What is the MOST expected fetal outcome?
A. Microcephaly
B. Fetal death
C. Structural malformations
D. No clinically significant effect
Correct Answer: D
3. A newborn has nasal hypoplasia and stippled epiphyses. Mother used a drug during 8–10 weeks of pregnancy. Which drug is responsible?
A. Warfarin
B. Isotretinoin
C. Methotrexate
D. Lithium
Correct Answer: A
4. A pregnant woman with lupus (anti-Ro positive) presents at 28 weeks. Fetal heart rate is persistently 55 bpm. What structural condition is most likely?
A. Tetralogy of Fallot
B. Complete heart block
C. Ebstein anomaly
D. PDA
Correct Answer: B
5. A mother with uncontrolled PKU gives birth to a baby with microcephaly and congenital heart disease. What caused the anomaly?
A. Fetal enzyme deficiency
B. Maternal high phenylalanine levels
C. Low protein diet
D. Mutation in BH4
Correct Answer: B
6. A 19-year-old pregnant woman uses isotretinoin unknowingly. Baby born with microtia and conotruncal heart defects. Which developmental process was disrupted?
A. Gastrulation
B. Neural crest migration
C. Somitogenesis
D. Limb bud induction
Correct Answer: B
7. A pregnant woman experiences fever of 39.5°C at 4 weeks gestation. Which malformation risk increases?
A. Diaphragmatic hernia
B. Neural tube defects
C. Gastroschisis
D. Polydactyly
Correct Answer: B
8. A baby has periventricular calcifications and microcephaly. Which infection is responsible?
A. Toxoplasmosis
B. CMV
C. Rubella
D. Zika virus
Correct Answer: B
9. A baby of a cocaine-abusing mother presents with limb defects and placental infarcts. Major mechanism?
A. DNA alkylation
B. Uteroplacental vasoconstriction
C. Folate antagonism
D. Estrogen imbalance
Correct Answer: B
10. A woman using methimazole in early pregnancy gives birth to a baby with choanal atresia. What is the condition?
A. Warfarin syndrome
B. Methimazole embryopathy
C. Hydantoin syndrome
D. Alcohol embryopathy
Correct Answer: B
11. A fetus exposed to ACE inhibitors during 2nd trimester shows oligohydramnios. Likely cause?
A. Placental insufficiency
B. Renal tubular dysgenesis
C. Fetal anemia
D. Polyuria
Correct Answer: B
12. A baby with cataracts, PDA, and deafness is born. At what gestational week was infection likely acquired?
A. 0–2 weeks
B. 4–8 weeks
C. 20–30 weeks
D. 30–40 weeks
Correct Answer: B
13. A fetus exposed to lithium shows apical displacement of the tricuspid valve. Diagnosis?
A. Tetralogy of Fallot
B. Ebstein anomaly
C. Truncus arteriosus
D. TAPVC
Correct Answer: B
14. A pregnant woman exposed to 600 mGy radiation at 10 weeks. Likely effect?
A. No effect
B. Intellectual disability
C. PDA
D. Limb defects only
Correct Answer: B
15. A baby has limb reduction defects (phocomelia). Mother used a sedative during pregnancy. Identify the drug.
A. Thalidomide
B. Diazepam
C. Haloperidol
D. Zolpidem
Correct Answer: A
16. Characteristic finding of fetal alcohol syndrome?
A. Long philtrum
B. Smooth philtrum
C. Microtia
D. Cleft palate
Correct Answer: B
17. A baby has diffuse intracranial calcifications and hydrocephalus. Mother had exposure to cats. Diagnosis?
A. Zika
B. CMV
C. Toxoplasmosis
D. Rubella
Correct Answer: C
18. A baby has microcephaly, calcifications, and arthrogryposis after mother had mosquito infection. Which virus?
A. CMV
B. Zika
C. Rubella
D. HSV
Correct Answer: B
19. Hyperthermia during organogenesis causes which defect?
A. Limb reduction
B. Neural tube defects
C. Choanal atresia
D. Tetralogy of Fallot
Correct Answer: B
20. A baby with hearing loss, microcephaly, and jaundice is born. Which infection is most likely?
A. CMV
B. Rubella
C. HSV
D. Toxoplasmosis
Correct Answer: A
21. Fetal hydantoin syndrome is seen with which drug?
A. Carbamazepine
B. Phenytoin
C. Valproate
D. Methotrexate
Correct Answer: B
22. A fetus exposed to misoprostol shows facial paralysis. Mechanism?
A. Folic acid inhibition
B. Vascular disruption
C. Neural tube closure failure
D. DNA methylation defect
Correct Answer: B
23. A neonate has aplasia cutis on scalp. Which maternal drug?
A. Carbamazepine
B. Methimazole
C. Lithium
D. Retinoids
Correct Answer: B
24. A baby with growth restriction, limb hypoplasia, and cicatricial skin lesions—mother infected at 12 weeks. Identify the infection.
A. Varicella
B. Toxoplasmosis
C. CMV
D. Rubella
Correct Answer: A
25. Baby with IUGR, hepatosplenomegaly, snuffles, and periostitis. Diagnosis?
A. HSV
B. Syphilis
C. Rubella
D. CMV
Correct Answer: B