NONINVASIVE PRENATAL DIAGNOSIS OF ANEUPLOIDIES BY NEXT- GENERATION SEQUENCING (NGS) IN A GROUP OF HIGH-RISK WOMEN


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Objective. To estimate the feasibility of using a next-generation sequencing technique for the noninvasive prenatal diagnosis of fetal aneuploidies. Subjects and methods. The investigation enrolled 200 women at 10-20 weeks’ gestation (median 14 weeks). The results of noninvasive prenatal diagnosis were assessed by bioinformatically processing the data of sequencing the DNA isolated from the plasma of the pregnant women; the T-test was used to compare the sample means. Cytogenetic examination (G staining of chorionic villous, placental, and amniotic fluid cells by the standard protocol) was used as a comparison method. Results. Comparison with noninvasive prenatal diagnosis yielded identical results in 196 of the 200 cases. The investigators validly determined 17 of 19 samples with trisomy 21, 8 of 8 samples with trisomy 18, one sample with trisomy 16, one sample with trisomy 13, and 4 of 4 samples with monosomy X. There were false-negative results (2 samples with trisomy 21) for samples with low fetal DNA levels; and two false-positive results for one sample with trisomy 13 and one sample with monosomy X must have been due to placental mosaicism. Conclusion. By taking into account the high sensitivity and specificity obtained for evaluating aneuploidies of chromosomes 21, 18, and X and in defining a fetal gender (the presence of a Y chromosome), this test may be recommended for prenatal screening.

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作者简介

Gennady Sukhikh

Academician V.I. Kulakov Research Center for Obstetrics, Gynecology and Perinatology Ministry of Health of Russia

Email: g_sukhikh@oparina4.ru
MD, PhD, Professor, Academician of Russian Academy of Sciences, Director 117997, Russia, Moscow, Ac. Oparina str. 4

Natalia Karetnikova

Academician V.I. Kulakov Research Center for Obstetrics, Gynecology and Perinatology Ministry of Health of Russia

Email: n_karetnikova@oparina4.ru
MD, PhD, Lead Researcher at the Laboratory of Reproductive Genetics 117997, Russia, Moscow, Ac. Oparina str. 4

Ekaterina Shubina

Academician V.I. Kulakov Research Center for Obstetrics, Gynecology and Perinatology Ministry of Health of Russia

Email: e_shubina@oparina4.ru
Junior Researcher at the Laboratory of Molecular Genetic Techniques 117997, Russia, Moscow, Ac. Oparina str. 4

Elena Baranova

Academician V.I. Kulakov Research Center for Obstetrics, Gynecology and Perinatology Ministry of Health of Russia

Email: e_baranova@oparina4.ru
MD. Laboratory of Reproductive Genetics 117997, Russia, Moscow, Ac. Oparina str. 4

Dmitriy Korostin

Academician V.I. Kulakov Research Center for Obstetrics, Gynecology and Perinatology Ministry of Health of Russia

Email: d.korostin@gmail.com
Junior Researcher at the Laboratory of Molecular Genetic Techniques 117997, Russia, Moscow, Ac. Oparina str. 4

Aleksey Ekimov

Academician V.I. Kulakov Research Center for Obstetrics, Gynecology and Perinatology Ministry of Health of Russia

Email: a_ekimov@oparina4.ru
MD., Laboratory of Molecular Genetic Techniques 117997, Russia, Moscow, Ac. Oparina str. 4

Nane Parsadanyan

Academician V.I. Kulakov Research Center for Obstetrics, Gynecology and Perinatology Ministry of Health of Russia

Graduate student, Department of Pregnancy Loss Prevention and Therapy 117997, Russia, Moscow, Ac. Oparina str. 4

Aleksandr Gus

Academician V.I. Kulakov Research Center for Obstetrics, Gynecology and Perinatology Ministry of Health of Russia

Email: a_gus@oparina4.ru
MD, PhD, Professor, Head of the Department of the functional diagnosis 117997, Russia, Moscow, Ac. Oparina str. 4

Vladimir Bakharev

Academician V.I. Kulakov Research Center for Obstetrics, Gynecology and Perinatology Ministry of Health of Russia

Email: v_bakharev@oparina4.ru
MD, PhD, Head of the Laboratory of Reproductive Genetics 117997, Russia, Moscow, Ac. Oparina str. 4

Dmitry Trofimov

Academician V.I. Kulakov Research Center for Obstetrics, Gynecology and Perinatology Ministry of Health of Russia

Email: d_troflmov@oparina4.ru
PhD, Head of the Laboratory of Molecular Genetic Techniques 117997, Russia, Moscow, Ac. Oparina str. 4

Sergey Voevodin

Academician V.I. Kulakov Research Center for Obstetrics, Gynecology and Perinatology Ministry of Health of Russia

Email: s_voevodin@oparina4.ru
MD, Phd, Division of Visual Diagnostics 117997, Russia, Moscow, Ac. Oparina str. 4

Nana Tetruashvili

Academician V.I. Kulakov Research Center for Obstetrics, Gynecology and Perinatology Ministry of Health of Russia

Email: n_tetruashvili@oparina4.ru
MD, PhD, Head of the Department of Pregnancy Loss Prevention and Therapy 117997, Russia, Moscow, Ac. Oparina str. 4

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