Genetics & Prenatal Dx

Question 1

What are the CNS abnormalities of Edwards syndrome?

Answer 1

Strawberry-shaped cranium
Myelomeningocele

Question 2

What is the most common aneuploidy in abortuses?

Answer 2

Turner syndrome

Question 3

What are the clin presentations of Turner syndrome?

Answer 3

Short stature
Broad chest w/ widely spaced nipples
Congenital lymphedema
Webbed posterior neck, bone and cartilage abnormalities

Question 4

What are the diff conditions caused by an AD gene?

Answer 4

Achondroplaia
Familial hypercholesterolemia
Hypertrophic obstructive cardiomyopathy
Neurofibromatosis type 1 &2
VWD
BRCA1 & BRCA2 breast and or ovarianc cancer

Question 5

What are the diff conditions caused by an AR gene?

Answer 5

Congenital adrenal hyerplasia
CF
Phenylketonuria
Sickle-cell anemia
Thalassemia

Question 6

What are diff conditions caused by Xlinked recessive gene?

Answer 6

Androgen insensitvity syndrome
Color blindness
G6PD def
Hemophilia A &B
Muscular dystrophy

Question 7

What is the use of Specialized sonograpy?

Answer 7

Congenital anomaly scnaning US

Question 8

What are the tests done for 1st trimester aneuploidy screening?

Answer 8

HCG, PAPP-A, sonographic NT

Question 9

What is the diff betw Trisomy 21 & 18?

Answer 9

Trisomy 21 = HIGH hCG, low PAPP-A
Trisomy 18 - LOW hCG, low pAPP-A

Question 10

What is an abnormal findings of the NT?

Answer 10

Increased risk = 4mm or more -> 99th percentile

Question 11

What are the tests done in the 2nd trim of aneuploidy screening?

Answer 11

AFP, hCG, unconjugated estriol and diametri inhibin