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Rapid prenatal diagnosis of the most frequent chromosome-induced congenital defects by quantitative fluorescent PCR

Publication at Second Faculty of Medicine |
1998

Abstract

First experience with the use of quantitative fluorescence PCR for rapid prenatal diagnosis of aneuploidies of chromosomes 13, 18, 21, X and Y without cultivation of fetal cells is reported. The results obtained by quantitative fluorescent PCR of 19 cultivated amniotic fluid cell lines and from 46 noncultivated amniocytes from 2 ml of amniotic fluid and of 10 samples with 1-2 mg of placental tissues and fetal peripheral blood brought evidence that this diagnostic methods provides 100% diagnostic reliability in rapid diagnosis of chromosomal aneuploidies.

All these results were confirmed by cytogenetic analysis of cultivated fetal cells sampled on the basis of indicated diagnostic amniocentesis, CVS and cordocentesis.