Teratogens

Question 1

Nose hypoplasia, long bone deformation

What exposure does this point to, and when was the exposure?

Answer 1

Warfarin (blood thinner)

8-11 weeks post LMP

Question 2

What exposure overall has 2x the population risk of an abnormal outcome?

What is the risk?

Answer 2

Anti-epileptic drugs

6-15%

Question 3

What antiepileptic drug has the highest risk of an adverse outcome?

Answer 3

Valproic acid (8-10%)

Question 4

Lithium exposure during organogenesis in pregnancy can cause:

Answer 4

Ebstein’s anomaly (valvular dysfunction of the tricuspid valve (R)
other CHDs
miscarriage

Question 5

What teratogen is known for causing bilateral limb defects when exposure occurs in the first trimester?

Answer 5

Thalidomide

Question 6

vulnerable period for thalidomide

Answer 6

30-50d post LMP

Question 7

What malformations are associated with earlier exposure to thalidomide?

Answer 7

anotia, thumb hypoplasia

Question 8

What malformations are associated with middle exposure to thalidomide?

Answer 8

microtia, upper limb anomalies, lower limb anomalies

Question 9

Likely cause of reproductive tract defects and uterine malformations in females

Answer 9

prenatal DES (diethylstilbesterol) exposure

Question 10

Prenatal DES exposure results in an increased risk for

Answer 10

adenocarcinoma
breast cancer
infertility

Question 11

What exposure would cause a fetus to present with caudal regression?

Answer 11

Uncontrolled maternal diabetes

Question 12

Risks associated with Prozac exposure

Answer 12

heart defects

craniosynostosis

Question 13

Risks associated with Paxil

Answer 13

anaencephaly
CHD
gastroschisis, omphalocele

Question 14

Risks with valproic acid exposure

Answer 14

spina bifida (not anencephaly)
CNS, skeletal, craniofacial malformations
developmental delay, autism

Question 15

Risks with accutane

Answer 15

pregnancy loss
major malformations
cognitive dysfunction

Question 16

vulnerable period of accutane

Answer 16

1st trimester

Question 17

Critical period for animicrobial drugs/antibiotics

Answer 17

all pregnancy and immediately after birth

Question 18

Symptoms of tetracycline exposure

Answer 18

deposition in long bones

yellow discoloration of teeth

Question 19

Phenotypic effects of fetal alcohol exposure

Answer 19

growth retardation
microcephaly
cognitive and behavioural dysfunction
VSD
vertebral defects
CNS malformations
hypoplastic nails

smooth philtrum
flat midface
epicanthal folds
thin upper lip

Question 20

phenotypic effects of high maternal Phe

Answer 20

microcephaly
CHDs
growth retardation
DD

Question 21

TORCH(Z) of teratogenic intrauterine infections

Answer 21

Toxoplasmosis
Other (Syphilis, Varicella, Parvovirus)
Rubella
Cytomegalovirus
Herpes simplex 
Zika virus

Question 22

phenotypic effects of toxoplasmosis

Answer 22

hydrocephalus
intracranial calcification
chorioretinitis
pregnancy loss

(more severe with earlier exposure)

Question 23

phenotypic effects of parvovirus exposure

Answer 23

hydrops
abdominal swelling
ventriculomegaly
hypertrophic cardiomyopathy
placentomeagaly

(ie. fluid accumulation + cardiomyopathy)

in children: bright red cheeks

Question 24

phenotypic effects of rubella exposure

Answer 24

cardiac defects 
cataracts
microcephaly
deafness
ID
"blueberry muffin" rash

Question 25

phenotypic effects of cytomegalovirus exposure

Answer 25

petichiae
microcephaly
hepatosplenomeagaly
jaundice
IUGR

deafness
seizures
DD

Question 26

phenotypic effects of Zika exposure

Answer 26

microcephaly, neurological abnormalities

Question 27

What kind of exposures are we most concerned about in pregnancy?

Answer 27

PRIMARY exposures