Diagnosis of genetic disorders Flashcards
1
Q
microdeletions
A
Fluoresence insito hibridisation
2
Q
to detect inborn errors of metabolism
A
Amino acid analysis
3
Q
Hypothyroidism
A
Neonatal & prenatal screening program
4
Q
quick diagnosis of aneuploidy syndromes, translocations
A
Fluoresence insito hibridisation
5
Q
To select sex of baby
A
Preimplantation genetic diagnosis (PGD)
6
Q
Neural tube defect
A
Neonatal & prenatal screening program
7
Q
Phenylketonurea
A
Neonatal & prenatal screening program
8
Q
to test embryos in vitro fertilization for certain genetic disorders, & only healthy embryos are returned to uterus
A
Preimplantation genetic diagnosis (PGD)
9
Q
Down syndrome
A
Neonatal & prenatal screening program