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Possibility of using the QF-PCR-method to detect aneuploidy on chromosomes 21, 18, 13, X and Y in amniocentesis in pregnant women of different risk groups

Abstract

Quantitative fluorescent PCR is a quick method of determining aneuploidy of chromosomes 13, 18, 21, X and Y. This article presents the results of a survey of 1,480 pregnant women aged 19 to 49 years with various indications for conducting prenatal researches to identify the most common chromosomal abnormalities of the fetus using the QF-PCRmethod. The fetal material was obtained from extraembryonic cells of the fetus (amniocytes). As a result of the research, 49 samples with aneuploidy (3.31 %) of 1 480 samples were identified. 69.4 % (34/49) of all detected pathologies are trisomy on chromosome 21 (Down s syndrome). 12.2 % accounted for the trisomy of chromosome 18 (Edwards syndrome) (6/49). In one sample a triploid (2.0 %) was detected. 16,4 % of the detected pathologies made samples with numerical violations of sex chromosomes (Kleinfelter syndrome, Shereshevsky-Turner syndrome, triple-X). Based on the obtained data, it is obvious that the most common aneuploidy is the trisomy of chromosome 21 (Down s syndrome).

About the Author

O. A. Tarasenko
Scientific and Research Institute for Obstetrics and Gynecology n. a. D.O. Ott
Russian Federation


References

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Review

For citations:


Tarasenko O.A. Possibility of using the QF-PCR-method to detect aneuploidy on chromosomes 21, 18, 13, X and Y in amniocentesis in pregnant women of different risk groups. Medical alphabet. 2018;2(19):37-40. (In Russ.)

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ISSN 2078-5631 (Print)
ISSN 2949-2807 (Online)