Teratogens/US

Question 1

Choroid Plexus Cyst

Answer 1

T18 Edwards

Question 2

Cystic Hygroma

Answer 2

Sack in back of neck. Turner, heart defect, noonan, most likely due to aneuploidy. Most common

Question 3

Duodenal Atresia

Answer 3

“double bubble” T21

Question 4

Echogenic Bowel

Answer 4

Bleeding, CF, T21, infection

Question 5

Echogenic Intracardiac Focus

Answer 5

(EIF) T21

Question 6

Holoprosencephaly

Answer 6

T13, Smith Lemi Opitz (AR, DHRC7)

Question 7

Pyelectasis

Answer 7

More common in male/urine in kidneys. T21

Question 8

Short Femur

Answer 8

T21, skeletal dysplasia

Question 9

Thick NT

Answer 9

Turner, Noonan, aneuploidy, heart defect

Question 10

Holoprosencephaly, 2/3 syndactlyly

Answer 10

Smith Lemi Opitz (AR, DHRC7)

Question 11

Cloverleaf Skull

Answer 11

Thanatophoric type 2, FGFR2 (apert syndactyly, crouzon strabismus, pfeiffer brachydactyly short fingers thumb bent away)

Question 12

Telephone Receiver Femur

Answer 12

Thanatophoric dysplasia type 1
FGFR3 AD

Question 13

Rhabdomyoma

Answer 13

TSC, heart

Question 14

Radial Ray Anomalies

Answer 14

(radius and thumb) Fancomi anemia, Holt oram TBX5 hand AD (and) heart, heart arm tbx through both sides AD, thrombocytopenia absent radius syndrome RBM8A AR

Question 15

Omphalocele

Answer 15

Beckwith Wedeman, T21

Question 16

Occipital encephalocele, cystic kidneys, polydactyly

Answer 16

Meckle Gruber MKS genes AR

Question 17

Heart ant Arm anomaly

Answer 17

holt oram (AD, TBX5) heart arm, hand heart, think TBX through both hearts ASD/VSD

Question 18

Caudal regression

Answer 18

Maternal diabetes

Question 19

Interrupted aortic arch

Answer 19

22q

Question 20

truncus arteriosis

Answer 20

22q

Question 21

TET

Answer 21

1: PVS
2:VSD
3:shifted aorta
4: R Ventricular hypertrophy

22Q, T21

Question 22

Heterotaxy

Answer 22

ciliopathys, organs formed wrong or in wrong place

Question 23

Ebstein Anomaly

Answer 23

defect in tricuspid valve. Lithium exposure

Question 24

Pulmonic Valve Stenosis

Answer 24

Noonan

Question 25

ASD VSD

Answer 25

T21, 18, 13

Question 26

Coarctation of the Aorta

Answer 26

Turner

Question 27

Supravalvular aortic stenosis

Answer 27

SVAS is Williams Syndrome (7q11.23 deletion syndrome) AD High proportion in Norway

Question 28

Tetracycline

Answer 28

tetra = 4 only risk after 4 months, teeth discoloration

Question 29

Vitamin folic acid def.

Answer 29

NTD’s spina bifida, anencephaly occurs 4-8 weeks

Question 30

Accutane

Answer 30

CNS, ear, heart, thymus

Question 31

Ace Inhibitors

Answer 31

Harry potter ACR’d kidneys. Potters sequences, renal, IUGR, critical period 2 and 3 trimester

Question 32

Alcohol

Answer 32

LD, DD, Ptosis, short palp fissures, smooth philtrum

Question 33

Anticonvulsants

Answer 33

Valproic acid, Phenobarbital: ONTD’s Clefting, CHD, Limbs, Lumbar meningocele, myelomeningocele, long philtrum, cupids two lip, fingernail hyperplasia

Question 34

Lithium

Answer 34

Ebstein anomaly = defect of tricuspid valve

Question 35

Maternal PKU

Answer 35

Microcephaly, heard defect, ID

Question 36

Mercury

Answer 36

Minimata disease (neurological)

Question 37

Serotonin Reuptake Inhibitors

Answer 37

SSRIs: neonatal jitteriness, irritability, respiratory distress

Question 38

Thalidomide

Answer 38

Limb reduction