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Gynaecology & Obstetrics General e316eddc

DNA analysis of chorionic villus/amniocentesis is not likely to detect :

A
Taysach's disease
B
Hemophilia A
C
Sickle cell disease
D
Duchenne muscular dystrophy
High-Yield Explanation
Ans. is a i.e. Tay sachs disease In chorionic villous biopsy, trophoblastic tissue is obtained from the chorionic villi. followed by biochemical or molecular (DNA) analysis of this tissue to diagnose various conditions. Diagnostic chorionic villous biopsy Conditions which require molecular or DNA analysis Conditions which require biochemical analysis Hemoglobinopathies tsickle cell disease) * Tay Sacn s disease Cystic fibrosis * Neimen pick disease Duchenne's or Berkers muscular dystrophy * Gaucher's disease Hemophilia A & B * Urea cycle defects Down syndrome * Amino acid disorder Congenital adrenal hyperplasia * Congenital adrenal hyperplasia Thus for diagnosis of Tay Sach's disease biochemical analysis of chorionic villous sample is done (not DNA analysis). Note : Congenital adrenal hyperplasia can be diagnosed both by biochemical testing and DNA analysis.

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