Prenatal Diagnosis

Question 1

“Maternal serum analytes” and include ____, ____, and _____.

Answer 1

alpha fetoprotein, estriol, and HCG

Question 2

______ is a lysosomal storage disorder caused by a deficiency in hexosaminidase A.

Answer 2

Tay-Sachs disease

Question 3

Tay-Sachs disease is a lysosomal storage disorder caused by a deficiency in ______.

Answer 3

hexosaminidase A

Question 4

Dx?

Gangliosides accumulate in the body, and their presence in the CNS leads to blindness, severe
neurologic disease, and death, usually by the age of 6.

Answer 4

Tay-Sachs disease

Question 5

______ utilizes DNA probes which mark specific regions of individual chromosomes and is useful for detecting chromosomal aneuploidy.

Answer 5

FISH

Question 6

How does FISH work?

Answer 6

it utilizes DNA probes which mark specific regions of individual chromosomes and is useful for detecting chromosomal aneuploidy.

Question 7

How does restriction fragment length polymorphism (RFLP) analysis work?

Answer 7

fetal cells can also be analyzed by probes specific for DNA sequences.

this method is useful for detection of mutations involving genes linked to the DNA restriction fragments

Question 8

This analysis method is useful for detection of mutations involving genes linked to the DNA restriction fragments- fetal cells can also be analyzed by probes specific for DNA sequences.

Answer 8

restriction fragment length polymorphism (RFLP)

Question 9

The most frequent indications for invasive diagnosis include? (5)

Answer 9

o Advanced maternal age (defined as > 35 years old at due date)
o Positive aneuploidy screening test (biochemical and/or ultrasound)
o Abnormal ultrasound findings: anatomic, IUGR, amniotic fluid volume
o Known parental chromosome rearrangements
o Previous affected child

Question 10

An MCV _____ excludes heterozygosity for α- or β-thalassemia.

Answer 10

> 80%

Question 11

Hemoglobin electrophoresis showing _____ will confirm β-thalassemia.

Answer 11

elevated hemoglobin A2 and hemoglobin F

Question 12

Hemoglobin electrophoresis showing elevated hemoglobin A2 and hemoglobin F will confirm _____.

Answer 12

β-thalassemia

Question 13

Cystic fibrosis is caused by abnormalities in the ______ protein.

Answer 13

CF transmembrane conductase regulator (CFTP)

Question 14

______ is caused by abnormalities in the CF transmembrane conductase regulator (CFTP)
protein.

Answer 14

Cystic fibrosis