Teratogens

Question 1

Lithium exposure

Answer 1

Ebstein anomaly (Tricupsid valve malformed which leads to RA enlargement)

Question 2

Alcohol exposure

Answer 2

FAS - microcephaly, hypertelorism, short palpebral fissure, ID, joint anomalies

IUGR

Question 3

Iso t-retinoin (retinoic acid)

Answer 3

Micocephaly
External audicotyr canal anomalies
Microtia
Cardiac defects
Thymic hypoplasia
Facial nerve palsias
GU malformations

Question 4

Methotrexate

Answer 4

Craniosynostosis and/or skeletal anomalies (limb defects)

Sometimes misdiagnosed as T18

Question 5

Phenytoin (AED)

Answer 5

Fetal hydantoin syndrome (aka phenytoin embryopathy)

Hypertelorism
Short upturned nose
Short, tubby digits
Hypoplastic nails
dysmorphias - arched eyebrows

Question 6

There is an increased risk of NTD from baseline with the use of what AED in utero?

Answer 6

Valproate. (Also inc risk for cardiovascular, urogenital, skelital, genital, craniofacial, anomalies blah blah blah)

Question 7

Iso t retinoin during pregnancy is associated with

Answer 7

Malformations similar to 22q11.2 DELETION syndrome (DiGeorge)
CATCH22 - CV defects, Abnl facies, Thymic hypoplasia, HypoPTH –> HypoCa+

and external auditory canal anomalies, GU anomalies, FN palsies, microcephaly

Question 8

Cocaine is associated with the following anomalies or impact

Answer 8

Gastroschisis
Low birth weight
Development delay - behavioral and cognitive