Genetic Evaluation, Prenatal Diagnosis, Teratology Flashcards
1
Q
Genetic counseling indications
A
- Pregnant women >35 yo
- 2st degree relative w/ gnetic/congenital anamoly
- FHx inherited Dx
- Mental retardation of unknown etiology
- specific ethnic/religious/geographic background
- Drug use/teratogen exposure
- infertility + spontaneous abortion
2
Q
Most common chromosomal Dx in live borns
A
- Sex chrom aneuploides
- Balanced translocation
- Trisomies
3
Q
Most X-linked disorders are ____ and mostly affect _____
A
Recessive; Men
4
Q
Important X-linked Disorders
A
- Hemophilia
- a- Duchenne MD
- G6PD Deficiency
- Color Blindness
5
Q
X-linked dominant primarily affect ______
A
females
6
Q
In the U.S., three disorders meet the criteria for routine screening in high-risk populations:
A
◦Tay-Sachs
◦Sickle cell anemia
◦Thalassemia
7
Q
MSAFP Values
Common Eit elevated levels
A
MOM Normal 0.4-2
>2.0 = elevated
<0.4 = low
1/3 of elevated levels are due to wrong dates, intra uterine fetal death, or multiple gestation, all of which can be identified by level I ultrasound.
8
Q
Level II US
A
detect majorityof NTD’s, ventral wall, and urinary tract defects
“banana sign”
“lemon sign”
9
Q
Down Syndrome Screening
A
- MSAFP
- hCG
- Estriol
- Inhibin A (quad)
- Glycolsylated bHCG (PEnta)
