Teratogens and Congenital Diseases

Question 1

ACE inhibitors

Answer 1

Renal damage

Question 2

Alkylating agents

Answer 2

Absence of digits, multiple anomalies

Question 3

Aminoglycosides

Answer 3

CN VIII tox (A mean guy hit the baby in the ear)

Question 4

Carbamazepine

Answer 4

Facial dysmorphism, developmental delay, neural tube defects, phalanx/fingernail hypoplasia

Question 5

DES

Answer 5

Vaginal clear cell adenocarcinoma, congenital Mullerian anomalies

Question 6

Folate antagonists

Answer 6

Neural tube defects

Question 7

Isotretinoin

Answer 7

Severe defects. Contraception mandatory

Question 8

Lithium

Answer 8

Ebstein anomaly (atrialized right ventricle)

Question 9

Methimazole

Answer 9

Aplasia cutis congenita

Question 10

Phenytoin

Answer 10

Fetal hydantoin syndrome - cleft palate, cardiac defects, phalanx/fingernail hypoplasia

Question 11

Tetracycline

Answer 11

Discolored teeth (teethracyclines)

Question 12

Thalidomide

Answer 12

limb defects (phocomelia, micromelia - flipper limbs).

Question 13

Valproate

Answer 13

Inhibition of maternal folate absorption -> neural tube defects.

ValproATE inhibits folATE absorption

Question 14

Warfarin

Answer 14

Bone deformities, fetal hemorrhage, abortion, ophthalmologic abnormalities

Do not wage WARFARe on the babym keep it HEPpy with HEParin (does not cross placenta)

Question 15

Alcohol

Answer 15

FAS. Pre- and postnatal developmental retardation, microcephaly, facial abnormalities (eg smooth philtrum, hypertelorism), limb discoloration, heart defects. Heart-lung fistulas and holoprosencephaly in most severe form. Mechanism of failure is CELL MIGRATION!

Question 16

Cocaine

Answer 16

Abnormal fetal growth and fetal addiction. Placental abruption

Question 17

Smoking (nicotine, CO)

Answer 17

Low birth weight (leading cause in developed countries), preterm labor, placental problems, IUGR, ADHD.

Question 18

Iodine (lack or excess)

Answer 18

Congenital goiter or hypothyroidism (cretinism)

Question 19

Maternal diabetes

Answer 19

Caudal regression syndrome (anal atresia to sirenomelia), congenital heart defects (eg transposition of great vessels), neural tube defects

Also, anencephaly

Also, CAUDAL REGRESSION SYNDROME - agenesis of sacrum to occassionally lumbar spine -> flaccid paralysis of legs, dorsiflexed contractures of feet, urinary incontinence.

Question 20

Vitamin A (excess)

Answer 20

Extremely high risk for spontaneous abortions and birth defects (cleft palate, cardiac)

Question 21

X-rays

Answer 21

Microcephaly, intellectual disability. Minimize with shielding

Question 22

GI malformation associated with downs

Answer 22

duodenal atresia

Question 23

Heart defects associated with turners

Answer 23

Coarctation of aorta and bicuspid aorta

Question 24

Heart defects associated with turners

Answer 24

Coarctation of aorta and bicuspid aorta

Question 25

Alcohol exposure and heart

Answer 25

VSD, PDA, ASD, ToF

Question 26

Congenital rubella and heart

Answer 26

Septal defects, PDA, pulmonary artery stenosis

Question 27

Down Syndrome and heart

Answer 27

AV septal defect (ENDOCARDIAL CUSHION DEFECT), VSD, ASD

Question 28

Infant diabetes mother and heart

Answer 28

Tranposition of great vessels

Question 29

Marfan syndrome and heart

Answer 29

MVP, thoracic aortic aneurysm and dissection, aortic regurgitation

Question 30

Prenatal lithium exposure and heart

Answer 30

Ebstein anomaly

Question 31

Turner syndrome and heart

Answer 31

Bicuspid aortic valve, coarctation of aorta

Question 32

Williams syndrome and heart

Answer 32

Supravalvular aortic stenosis

Question 33

22q11 and heart (DiGeorge)

Answer 33

Truncus arteriosus, ToF

Question 34

Cretinism (congenital hypothyroid)

Answer 34

Pot-bellied, pale, puffy-faced child with protruding umbilicus, protuberant tongue, and poor brain development.