test 2

Question 1

GENETIC & CONGENITAL DISORDERS

Culture fetal cells; microscopic chromosomal study

Answer 1

Karyotyping (chromosome analysis)

Question 2

GENETIC & CONGENITAL DISORDERS

Detects aneuploidy (Down, Turner, etc.)

Answer 2

Karyotyping (chromosome analysis)

Question 3

GENETIC & CONGENITAL DISORDERS

Molecular detection of chromosomal abnormalities

Answer 3

FISH / PCR

Question 4

GENETIC & CONGENITAL DISORDERS

Rapid genetic diagnosis

Answer 4

FISH / PCR

Question 5

GENETIC & CONGENITAL DISORDERS

PCR or sequencing of fetal DNA

Answer 5

DNA studies

Question 6

GENETIC & CONGENITAL DISORDERS

Single-gene disorders (e.g., cystic fibrosis, thalassemia)

Answer 6

DNA studies

Question 7

GENETIC & CONGENITAL DISORDERS

Immunoassay

Answer 7

Alpha-fetoprotein (AFP)

Question 8

GENETIC & CONGENITAL DISORDERS

high AFP - Neural tube defects (spina bifida, anencephaly)

Answer 8

Alpha-fetoprotein (AFP)

Question 9

GENETIC & CONGENITAL DISORDERS

Enzyme detection

Answer 9

Acetylcholinesterase test

Question 10

GENETIC & CONGENITAL DISORDERS

Confirms neural tube defects if AFP elevated

Answer 10

Acetylcholinesterase test