More birth defects- from First Aid

Question 1

Second trimester quad screen shows:

• increased inhibin A
• increased beta-hCG
• decreased alpha-fetoprotein
• decreased estriol
  
  • Dx?

Answer 1

Down Syndrome

Question 2

What does Ribavirin (an antiviral), when taken in pregnancy, do to a fetus?

Answer 2

it’s teratogenic

Question 3

What do sulfonamides, when taken in pregnancy, do to a fetus?

Answer 3

cause kernicterus

Question 4

Dx?

• limb deformities
• facial anomalies (low set ears and retrognathia)
• compression of chest –> pulmonary hypoplasia

Answer 4

Potter Syndrome/Sequence

Question 5

First trimester US shows:

• decreased PAPP-A
• decreased free beta-hCG
• increased nuchal translucency
  
  • Dx?

Answer 5

Trisomy 13 (Patau syndrome)

Question 6

What does Griseofulvin (an antifungal), when taken in pregnancy, do to a fetus?

Answer 6

it’s teratogenic

Question 7

You diagnose your pt with a horseshoe kidney. What does this mean going forward?

Answer 7

• normal kidney function but increased risk of:
  
  • uteropelvic junction obstruction
  • hydronephrosis
  • renal stones
  • renal CA (Wilms Tumor)- rare

Question 8

What is the enzyme deficiency in Tay-Sachs?

Answer 8

Hexosaminidase A

“Tay-SaX lax heXosaminidase”

Question 9

What is horseshoe kidney associated with?

Answer 9

Turner syndrome

Question 10

What does Clarithromycin, when taken in pregnancy, do to a fetus?

Answer 10

it’s embryotoxic :(

Question 11

First trimester US shows:

• decreased PAPP-A
• decreased free beta-hCG
  
  • Dx?

Answer 11

Trisomy 18 (Edwards syndrome)

Question 12

What substrate accumulates in Tay-Sachs?

Answer 12

GM2 ganglioside

Question 13

What causes a horseshoe kidney?

Answer 13

kidneys get trapped under the INFERIOR MESENTERIC ARTERY during development

Question 14

What do tetracyclines, when taken in pregnancy, do to a fetus?

Answer 14

• discolored teeth
• inhibition of bone growth

Question 15

First trimester US shows:

• increased nuchal translucency
• hypoplastic nasal bone
• decreased serum PAPP-A
• increased free beta-hCG
  
  • Dx?

Answer 15

Down Syndrome

Question 16

What do Aminoglycosides, when taken in pregnancy, do to a fetus?

Answer 16

ototoxicity

“A mean guy kicked the baby in the ear”

Question 17

What drug causes Gray Baby syndrome?

Answer 17

Chloramphenicol

Question 18

What is the inheritance of Tay-Sachs?

Answer 18

AR

Question 19

95% of Down Syndrome cases are due to ______.

Answer 19

meiotic nondisjunction of homologous chromosomes due to advanced maternal age

Question 20

What causes Potter Syndrome/Sequence?

Answer 20

• oligohydramnios from:
  
  • ARPKD
  • posterior urethral valves
  • bilateral renal agenesis

Question 21

What is the kidney finding associated with Turner syndrome?

Answer 21

horseshoe kidney

Question 22

What do Fluoroquinolones, when taken in pregnancy, do to a fetus?

Answer 22

cartilage damage

Question 23

What congenital heart disease is most common in Down Syndrome?

Answer 23

ostium primum-type ASD

Question 24

Second trimester quad screen shows:

• normal-decreased inhibin A
• decreased beta-hCG
• decreased alpha-fetoprotein
• decreased estriol
  
  • Dx?

Answer 24

Trisomy 18 (Edwards syndrome)

Question 25

What does Chloramphenicol, when taken in pregnancy, do to a fetus?

Answer 25

causes Gray Baby syndrome