[Complex biochemical and molecular approach to prenatal diagnosis of mucoviscidosis]
Akusherstvo I Ginekologiia
|January 1, 1991
Abstract:
Prenatal diagnosis of 62 cases of cystic fibrosis was performed in high-risk families at 18-21 gestational weeks using biochemical and molecular tests. The diagnosis was ruled out in 42 and confirmed in 20 cases. The incidence of false-positive results was 8.3% (5 of 62) and that of false-negative results 3.7% (2 of 62). Reliability of prenatal diagnosis in concomitant use of biochemical and molecular tests was over 95%. Advantages of prenatal diagnosis of cystic fibrosis using DNA probes and requirements for its wider adoption in the first trimester are discussed.
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