Screening for Carriers of Genetic Disorders, Prenatal Dx of Genetic Disorders, Diseases of Infancy and Childhood Flashcards
1
Q
What people are typically screened for genetic disorders?
A
Ashkenazi Jews
2
Q
What diseases are predominant in Ashkenazi Jews?
A
Tay-Sachs and CF
3
Q
What are the most important Dx tools for genetic/develoopmental disorders?
A
Amniocentesis and chorionic villus
4
Q
What are some indications for performing prenatal Dx tests?
A
- Age >35
- Previous chromosomal abnormalities
- Translocation carrier
- Hx of familial inborn error of metabolism
- Identified heterozygotes
- FHx of X-linked disorders
