Ch 3 Prenatal Screening, Diagnosis, and Treatment Flashcards
1
Q
Tay Sachs gene
A
hexosamidase A
2
Q
Thalassemia with 4 levels of severity
A
alpha, b/c coded by 4 alleles
3
Q
Beta thal diagnosed when
A
when fetal Hgb is gone
4
Q
Alpha thal trait electrophoresis
A
normal, mild anemia
5
Q
Alpha thal: cis or trans worse in parents
A
cis, child has 25% chance of getting severe form
6
Q
Trisomy 18 US screening
A
choroid plexus cysts in brain, clenched fists, overlapping digits, rocker bottom feet
7
Q
Potter syndrome
A
renal failure
8
Q
What is one hormone elevated in which aneuploidy
A
betaHCG in Downs
9
Q
Amniocentesis risk
A
1:200
