Experience of using high-throughput sequencing (NGS) for noninvasive prenatal screening of fetal aneuploidy at the D.O. Ott Research Institute of Obstetrics, Gynecology and Reproduction


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Abstract

Objective: To evaluate the clinical efficiency of noninvasiveprenatal screening of fetal aneuploidies in the mother’s blood conducted at the D.O. Ott Research Institute of Obstetrics, Gynecology and Reproduction from December 2019 to April 2022 in comparison with f irst trimester combined screening. Material and methods: A total of4272 blood samples obtained from pregnant women were analyzed. Noninvasive prenatal screening of fetal aneuploidies was performed by means of the analysis of extracellular DNA (eDNA) of the fetus in the mother’s blood by high-throughput sequencing (NGS). Results: A high risk of fetal aneuploidy was noted in 173/4272 cases (4.05% of all studies). The results were confirmed by invasive diagnostic methods in 138 cases. Among them, the most common disorders are trisomy 21 (Down syndrome) - 74.63% of cases, trisomy 18 (Edwards syndrome) - 7.97%, trisomy 13 (Patau syndrome) - 6.52%; these results are consistent with the findings obtained in the Russian and foreign practice. The prognostic value of detecting trisomy 21, 18, and 13 is significantly higher in comparison with first trimester combined screening. There is a high percentage of fetuses with abnormalities (2.41%) in women of the so-called fetal concern group; their percentage is equal to that (2.46%) in pregnant women of “intermediate risk” according to the results of early prenatal screening. Conclusion: The results of the study show the high clinical efficacy of noninvasive prenatal screening of fetal aneuploidy by NGS method. In case of detecting a high risk of fetal chromosomal pathology, it is necessary to refer the patient to a geneticist for consultation and for solving the issue of invasive prenatal diagnosis as well.

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About the authors

Olga A. Tarasenko

D.O. Ott Research Institute of Obstetrics, Gynecology and Reproduction; LLC NIPT

Email: olgatar777@gmail.com
PhD. (Bio), Researcher at the Laboratory of Genomics

Elena S. Vashukova

D.O. Ott Research Institute of Obstetrics, Gynecology and Reproduction; LLC NIPT

Email: vijena@list.ru
PhD. (Bio), Researcher at the Laboratory of Genomics

Polina Yu. Kozyulina

D.O. Ott Research Institute of Obstetrics, Gynecology and Reproduction; LLC NIPT

Email: polykoz@gmail.com
bioinformatician

Alisa V. Morshneva

LLC NIPT

Email: 1195alisa@gmail.com
bioinformatician

Anastasia R. Maltseva

D.O. Ott Research Institute of Obstetrics, Gynecology and Reproduction; LLC NIPT

Email: nastya.chentsova@gmail.com
Research Assistant at the Laboratory of Genomics

Olga V. Pachulia

D.O. Ott Research Institute of Obstetrics, Gynecology and Reproduction

Email: for.olga.kosyakova@gmail.com
PhD., Scientific Secretary

Olga E. Talantova

D.O. Ott Research Institute of Obstetrics, Gynecology and Reproduction

Email: olga_talantova@mail.ru
Ph.D., Senior Researcher at the Laboratory of Genomics

Alexander L. Koroteev

St. Petersburg State Public Health Institution "Diagnostic Center (Medical Genetic)"

Email: alexkoroteev@mail.ru
Ph.D., Head Physician

T. E.I Ivashchenko

D.O. Ott Research Institute of Obstetrics, Gynecology and Reproduction

Olesya N. Bespalova

D.O. Ott Research Institute of Obstetrics, Gynecology and Reproduction

Email: shiggerra@mail.ru
Dr. Med. Sci., Deputy Director for Research

Igor Yu. Kogan

D.O. Ott Research Institute of Obstetrics, Gynecology and Reproduction

Email: ikogan@mail.ru
Dr. Med. Sci

V. Sj Baranov

D.O. Ott Research Institute of Obstetrics, Gynecology and Reproduction

Andrey S. Glotov

D.O. Ott Research Institute of Obstetrics, Gynecology and Reproduction

Email: anglotov@mail.ru
Dr. Bio. Sci., Head of the Department of Genomic Medicine

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