Childhood Diseases 1

Question 1

No 1 cause of death in children younger than 1 year old?

Answer 1

Congenital anomalies

Question 2

Incidence of congenital anomalies?

Answer 2

1/33

Question 3

What are the top four most common congenital anomalies in descending order?

Answer 3

Club Foot
Patent ductus arteriosis
Ventricular Septal defect
Cleft Lip

Way at bottom is rectal and intestinal atresia.

Question 4

Incidence of Trisomy 21?

Answer 4

1/700 births

Question 5

Most common chromosomal disorder and leading cause of mental retardation in the US?

Answer 5

Trisomy 21

Question 6

Trisomy 21 patients are at 10-20 times higher risk of developing?

Answer 6

ALL and AML

Acute megakaryoblastic anemia.

Question 7

When are the triplicate and quad screens for Downsyndrome offered?

Answer 7

Weeks 15-20

Question 8

What does the triplicate DS screen for?

Answer 8

75% detection rate checking serum AFP, estriol and B-hCG

Question 9

What does the Quad screen DS test for?

Answer 9

79% detection rate measuring serum AFP,Estriol, BHCG just like the triplicate but adds test for inhibin alpha.

Question 10

What does the AFP/ free beta screen test for in DS?

Answer 10

Performed at 13-22 weeks testing for AFP and free B-HCG with a 80% detection rate.

Question 11

At what period of time can nuchal translucency be used for DS detection?

Answer 11

10-13.5 weeks with a 91% detection rate!!

Also looks for free B-HcG and PAPPA (Pregnancy associated plasma protein A)

Question 12

What is the incedence of Cystic Fibrosis?

Answer 12

1/2500

Question 13

The most common mutation causing CF leads to a deletion of what?

Answer 13

3 nucleotides coding for phenylalanine at A.A. position 508.

Question 14

At what age will a neonate be considered premature?

Answer 14

When born before 37 weeks.

Post term if born >42 weeks

Question 15

What Heart Rate is a 2 for the APGAR score?

Answer 15

> 100

Question 16

What APGAR score correlates to 0% chance of immediate death?

Answer 16

APGAR score >7

Question 17

What apgar score correlates with a 20% chance at immediate death?

Answer 17

APGAR score of 4

Question 18

What is the number 2 cause of death in children younger than 1 year?

Answer 18

PRemature birth

Question 19

Asymetric Fetal Growth Restriction is seen at what stage compared to Symmetric Fetal Growth Restriction?

Answer 19

Asymetric = Placental abnormalities

Symetric = Fetal abnormalities

Question 20

When does Rubella invade the placenta?

Answer 20

During the first trimester with 10% incedence fetal infection
Leads to rash, microcephaly, heart defects, and cataracts.

Question 21

When does Congenital syphillis cross the placenta?

Answer 21

5th months of pregnancy making prevention easy!

Still birth in 1/3
2/3 of carried fetus have congenital syph.

Question 22

Hutchinsons teeth, mulberry molars and saber teeth are all identifying conditions of what disease?

Answer 22

Congenital syphilis.