Fetal Abnormalities

Question 1

Trisomy 18

Answer 1

Overlapping fingers
Micrognathia
Cardiac defects

Question 2

Trisomy 21

Answer 2

Oblique palpebral fissures
Epicanthic folds
Low set ears
Flattened bridge of nose
Protruding tongue
Cardiac defects
Hypotonia
Short broad hands
Single palmar (simian) crease
Sandal gap toes

Question 3

What is fetal hydantoin syndrome?

Answer 3

In utero exposure to an antiepileptic, causing low folate and high oxidative metabolites

Wide anterior fontanelle
Cleft lip/palate
Distal phalange hypoplasia
Cardiac anomalies (e.g. pulmonary stenosis, aortic stenosis)
Neural tube defects and microcephaly

Question 4

How does fetal alcohol syndrome present?

Answer 4

Microcephaly
Small palpebral fissures
Midface hypoplasia
Smooth philtrum
Thin vermillion border of lip

Question 5

How does infant with syphilis present?

Answer 5

Typically asymptomatic; those with symptoms have:
Rhinitis
Hepatomegaly
Maculopapular rash

Question 6

How does congenital Rubella present?

Answer 6

Fetal growth restriction, hepatomegaly

Question 7

What is congenital parvovirus B19 associated with?

Answer 7

Fetal anemia, hydrops fetalis

Question 8

What is congenital Listeria associated with?

Answer 8

Preterm delivery, multiple abscesses, granulomas, dilated bowel loops, ascites

Question 9

How does congenital CMV present?

Answer 9

Fetal growth restriction, hepatomegaly with intrahepatic calcifications, periventricular intracranial calcifications

Question 10

Gastroschisis is associated with what medication?

Answer 10

NSAIDs during 1st trimester

Question 11

Amniotic band sequence - signs

Answer 11

Limb defects (amputation, hand, clubfoot)
Craniofacial defects
Abdominal wall defects