Application of a noninvasive prenatal test in the Yamal-Nenets Autonomous Area
Objective: To evaluate the clinical efficiency of noninvasive prenatal testing (NIPT) versus first-trimester prenatal screening in pregnant women in the Yamalo-Nenets Autonomous Area (YNAA).Kaplanova M.T., Galaktionova A.M., Sagaydak O.V., Kuznetsova E.S., Belenikin M.S., Baranova E.E., Denisov A.G.
Materials and methods: A total of 2050 blood samples taken from pregnant women in the YNAA on August 8, 2020 to November 30, 2021 were analyzed. NIPT was done using whole-genome sequencing technology. When a high risk for fetal chromosomal abnormalities (CA) was identified on the basis of NIPT results, a cytogenetic study of the fetal material obtained was performed during an invasive procedure. To assess clinical efficacy, the results of NIPT were compared with those of invasive prenatal diagnosis (IPD).
Results: A high risk of fetal CA, as evidenced by NIPT, was determined in 25 of the 2050 cases; first-trimester prenatal screening additionally revealed 15 high risks of fetal CA among the pregnant women at medium and low risks, as shown by prenatal screening results. NIPT could potentially reduce the number of IPD cases in pregnant women by 51.9% (from 52% to 25) and that of false positive prenatal screening results (from 52% to 10%) and increase the proportion of pregnant women who agreed to undergo IPD by 14.5% (from 13.5% to 28%).
Conclusion: The inclusion of NIPT in the practical health care of the YNAA improves the quality of care for pregnant women.
Keywords
chromosomal pathology
prenatal screening
noninvasive prenatal testing
NIPT
microstructural rearrangements
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Received 18.02.2022
Accepted 10.06.2022
About the Authors
Madina T. Kaplanova, medical geneticist, Evogen LLC, Moscow, Russia, kaplanova@evogenlab.ru, 1https://orcid.org/0000-0001-6715-706X,15191, Russia, Moscow, 4th Roshchinskiy str., 20 b.1.
Alexandra M. Galaktionova, PhD, medical geneticist, obstetrician-gynecologist, expert in prenatal diagnostics, Evogen LLC, galaktionova@evogenlab.ru,
https://orcid.org/0000-0001-8602-5441, 115191, Russia, Moscow, 4th Roshchinskiy str., 20 b.1.
Elena E. Baranova, PhD, medical geneticist, medical director, Evogen LLC; Associate Professor, Russian Medical Academy of Continuous Professional Education,
Department of Medical Genetics, baranova@evogenlab.ru, https://orcid.org/0000-0001-9638-2303, 115191, Russia, Moscow, 4th Roshchinskiy str., 20 b.1.
Olesya V. Sagaydak, PhD, Head of Scientific and Medical Department, Evogen LLC, sagaydak@evogenlab.ru, https://orcid.org/0000-0002-2534-8463,
115191, Russia, Moscow, 4th Roshchinskiy str., 20 b.1.
Ekaterina S. Kuznetsova, PhD (Bio), Head of the direction "GENOME HEALTH" of the Scientific and Medical Department, Evogen LLC, e.kuznetsova@evogenlab.ru,
115191, Russia, Moscow, 4th Roshchinskiy str., 20 b.1.
Maxim S. Belenikin, PhD, Director of Scientific Research, Head of laboratory, Evogen LLC, belenikin@evogenlab.ru, https://orcid.org/0000-0002-6556-163X,
115191, Russia, Moscow, 4th Roshchinskiy str., 20 b.1.
Alexey G. Denisov, PhD, General Supernumerary Specialist in Obstetrics and Gynecology of the Health Department of the Yamalo-Nenets Autonomous Okrug;
Head of the Perinatal center, Salekhard District Clinical Hospital, denisovag@yandex.ru, 629001, Russia, Yamalo-Nenets Autonomous Okrug, Salekhard, Mira str., 39.
Corresponding author: Madina T. Kaplanova, kaplanova@evogenlab.ru
Authors' contributions: Sagaydak O.V., Baranova E.E., Galaktionova A.M., Denisov A.G., Belenikin M.S. – the concept and design of the investigation, editing; Kaplanova M.T., Galaktionova A.M., Kuznetsova E.S. – material collection and processing; Kaplanova M.T., Galaktionova A.M. – statistical data processing, writing the text.
Conflicts of interest: The authors of this article confirm that there are no conflicts of interest to be informed.
Funding: The investigation has been carried out with financial support from the Government of the Yamalo-Nenets Autonomous Area.
Acknowledgement: The authors express their gratitude to the “Evogen” LLC laboratorians Zolotopup A.A., Panferova A.A., and Rusinova V.S. for the experimental part of laboratory work.
Ethical Approval: The investigation has been approved by the Ethics Committee of the “Evogen” LLC.
Patient Consent for Publication: All patients provided informed consent for the publication of their data.
Authors' Data Sharing Statement: The data supporting the findings of this study are available on request from the corresponding author after approval from the principal investigator.
For citation: Kaplanova M.T., Galaktionova A.M., Sagaydak O.V., Kuznetsova E.S., Belenikin M.S., Baranova E.E., Denisov A.G. Application of a noninvasive prenatal test
in the Yamal-Nenets Autonomous Area.
Akusherstvo i Ginekologiya/Obstetrics and Gynecology. 2022; 7: 104-112 (in Russian)
https://dx.doi.org/10.18565/aig.2022.7.104-112
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