Fetal Abnormalities Flashcards
Trisomy 18
Overlapping fingers
Micrognathia
Cardiac defects
Trisomy 21
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
What is fetal hydantoin syndrome?
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
How does fetal alcohol syndrome present?
Microcephaly
Small palpebral fissures
Midface hypoplasia
Smooth philtrum
Thin vermillion border of lip
How does infant with syphilis present?
Typically asymptomatic; those with symptoms have:
Rhinitis
Hepatomegaly
Maculopapular rash
How does congenital Rubella present?
Fetal growth restriction, hepatomegaly
What is congenital parvovirus B19 associated with?
Fetal anemia, hydrops fetalis
What is congenital Listeria associated with?
Preterm delivery, multiple abscesses, granulomas, dilated bowel loops, ascites
How does congenital CMV present?
Fetal growth restriction, hepatomegaly with intrahepatic calcifications, periventricular intracranial calcifications
Gastroschisis is associated with what medication?
NSAIDs during 1st trimester
Amniotic band sequence - signs
Limb defects (amputation, hand, clubfoot)
Craniofacial defects
Abdominal wall defects
2nd-trimester quadruple screen - Trisomy 21
MSAFP down
bhCG up
Estriol down
Inhibin A up
2nd-trimester quadruple screen - Trisomy 18
MSAFP down
bhCG down
Estriol down
Inhibin A normal
2nd-trimester quadruple screen - neural tube or abdominal wall defect
MSAFP up
bhCG normal
Estriol normal
Inhibin A normal
