APPLICATION OF A NONINVASIVE PRENATAL TEST IN THE YAMAL-NENETS AUTONOMOUS AREA


Cite item

Full Text

Open Access Open Access
Restricted Access Access granted
Restricted Access Subscription or Fee Access

Abstract

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). 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.

Full Text

Restricted Access

About the authors

Madina T. KAPLANOVA

Evogen LLC

Email: kaplanova@evogenlab.ru
medical geneticist Moscow, Russia

Alexandra M. GALAKTIONOVA

Evogen LLC

Email: galaktionova@evogenlab.ru
PhD, medical geneticist, obstetrician-gynecologist, expert in prenatal diagnostics Moscow, Russia

Olesya V. SAGAYDAK

Evogen LLC

Email: sagaydak@evogenlab.ru
PhD, Head of Scientific and Medical Department Moscow, Russia

Ekaterina S. KUZNETSOVA

Evogen LLC

Email: e.kuznetsova@evogenlab.ru
PhD (Bio), Head of the direction "GENOME HEALTH" of the Scientific and Medical Department Moscow, Russia

Maxim S. BELENIKIN

Evogen LLC

Email: belenikin@evogenlab.ru
PhD, Director of Scientific Research, Head of laboratory Moscow, Russia

Elena E. BARANOVA

Evogen LLC; Russian Medical Academy of Continuing Professional Education, Ministry of Health of the Russian Federation

Email: baranova@evogenlab.ru
PhD, medical geneticist, medical director, Evogen LLC; Associate Professor, Russian Medical Academy of Continuous Professional Education, Department of Medical Genetics Moscow, Russia

Alexey G. DENISOV

Healthcare Department of the Yamalo-Nenets Autonomous Area; Salekhard District Clinical Hospital

Email: denisovag@yandex.ru
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 Salekhard, Russia

References

  1. Калашникова Е.А., Глотов А.С., Андреева Е.Н., Барков И.Ю., Бобровник Г.Ю., Дубровина Е.В., Жученко Л.А. Современное значение неинвазивного пренатального исследования внеклеточной ДНК плода в крови матери и перспективы его применения в системе массового скрининга беременных в Российской Федерации. Журнал акушерства и женских болезней. 2021; 70(1): 19-50.
  2. Kazachkova N., Gontar J., Vertinsky O., Ilyin I. Successful early fetal sex determination using cell-free fetal DNA isolated from maternal capillary blood: A pilot study. Eur. J. Obstet. Gynecol. Reprod. Biol. X. 2019; 3: 100038. https://dx.doi.org/10.1016/j.eurox.2019.100038.
  3. Harraway J. Non-invasive prenatal testing. Aust. Fam. Physician. 2017; 46(10): 735-9.
  4. Lee D.E., Kim H., Park J., Yun T., Park D. Y., Kim M., Ryu H.M. Clinical validation of non-invasive prenatal testing for fetal common aneuploidies in 1,055 Korean Pregnant Women: A Single Center Experience. J. Korean Med. Sci. 2019; 34(24): e172. https://dx.doi.org/10.3346/jkms.2019.34.e172.
  5. Norton M.E., Jacobsson B., Swamy G.K., Laurent L.C., Ranzini A.C., Brar H. et al. Cell-free DNA analysis for noninvasive examination of trisomy. N. Engl. J. Med. 2015; 372(17): 1589-97. https://dx.doi.org/10.1056/nejmoa1407349.
  6. American College of Obstetricians and Gynecologists Committee on Genetics.Committee Opinion No. 545: Noninvasive prenatal testing for fetal aneuploidy. Obstet. Gynecol. 2012; 120(6): 1532-4. https://dx.doi.org/10.1097/01.aog.0000423819.85283.f4.
  7. Committee Opinion No. 640: Cell-free DNA screening for fetal aneuploidy. Obstet. Gynecol. 2015; 126(3): e31-7. https://dx.doi.org/10.1097/aog.0000000000001051.
  8. American College of Obstetricians and Gynecologists’ Committee on Practice Bulletins-Obstetrics; Committee on Genetics; Society for Maternal-Fetal Medicine. Screening for fetal chromosomal abnormalities: ACOG Practice Bulletin, Number 226. Obstet. Gynecol. 2020; 136(4): e48-69. https://dx.doi.org/10.1097/aog.0000000000004084.
  9. Неинвазивный пренатальный ДНК-скрининг анеуплоидий плода по крови матери методом высокопроизводительного секвенирования. Клинические рекомендации. Акушерство и гинекология. 2016; 6: 129. https://dx.doi.org/10.18565/aig.2016.6.recomendations.
  10. Оленев А. С., Баранова Е.Е., Сагайдак О.В., Галактионова А.М., Беленикин М.С., Гнетецкая В.А., Зобкова Г.Ю., Косова Е.В., Макарова М.В., Сонголова Е.Н. Международный опыт организации проведения неинвазивного пренатального теста. Вопросы гинекологии, акушерства и перинатологии. 2021; 20(1): 129-37. https://dx.doi.org/10.20953/1726-1678-2021-1-129-137.
  11. Gadsboll K., Petersen O.B., Gatinois V., Strange H., Jacobsson B., Wapner R., Vermeesch J.R.; NIPT-map Study Group; Vogel I. Current use of noninvasive prenatal testing in Europe, Australia and the USA: A graphical presentation. Acta Obstet. Gynecol. Scand. 2020; 99(6): 722-30. https://dx.doi.org/10.1111/aogs.13841.
  12. Nshimyumukiza L., Beaumont J.A., Rousseau F., Reinharz D.Introducing cell-free DNA noninvasive testing in a Down syndrome public health screening program: a budget impact analysis. Cost Eff Resour Alloc. 2020; 18(1): 49. https://dx.doi.org/10.1186/s12962-020-00245-5.
  13. Xie X., Wang M., Goh E.S.-Y., Ungar W.J., Little J., Carroll J.C. et al. Noninvasive prenatal testing for trisomies 21, 18, and 13, sex chromosome aneuploidies, and microdeletions in average-risk pregnancies: A cost-effectiveness analysis. J. Obstet. Gynaecol. Can. 2020; 42(6): 740-9.e12. https://dx.doi.org/10.1016/j.jogc.2019.12.007.
  14. Приказ Департамента здравоохранения города Москвы от 13 марта 2020 № 199 «Об организации проведения неинвазивного пренатального теста в
  15. Приказ Департамента здравоохранения Ямало-Ненецкого автономного округа от 24.06.2020 № 671-о «Об организации проведения неинвазивного пренатального теста (НИПТ) в Ямало-Ненецком автономном округе».
  16. Приказ Департамента здравоохранения Ямало-Ненецкого автономного округа от 29.04.2021 № 444-о «Об организации проведения неинвазивного пренатального теста (НИПТ) в Ямало-Ненецком автономном округе».
  17. Приказ Департамента здравоохранения Ямало-Ненецкого автономного округа от 01.07.2021 № 643-о «О внесении изменений в приказ департамента здравоохранения Ямало-Ненецкого автономного округа от 29 апреля 2021 года № 444-о».
  18. Приказ Минздрава России от 20 октября 2020 г. № 1130н «Об утверждении Порядка оказания медицинской помощи по профилю «акушерство и гинекология».
  19. Samura O. Update on noninvasive prenatal testing: A review based on current worldwide research. J. Obstet. Gynaecol. Res. 2020; 46(8): 1246-54. https://dx.doi.org/10.1111/jog.14268.
  20. Емельяненко Е.С., Ветрова Н.В., Масюк С.В., Исаев А.А. Клиническая и экономическая эффективность методов пренатальной диагностики хромосомных аномалий. Доктор.Ру. Гинекология. Эндокринология. 2016; 3: 43-51.
  21. Оленев А. С., Баранова Е.Е., Сагайдак О.В., Кузнецова Е.С., Галактионова А.М., Капланова М.Т., Беленикин М.С., Зобкова Г.Ю., Гнетецкая В.А., Косова Е.В., Макарова М.В., Сонголова Е.Н. Результаты пренатального скрининга на трисомии по 21-й, 18-й и 13-й хромосомам с использованием неинвазивного пренатального тестирования в г. Москве. Проблемы репродукции. 2021; 27(1): 114-23. https://dx.doi.org/10.17116/repro202127011114.
  22. Bjerregaard L., Stenbakken A.B., Andersen C.S., Kristensen L., Jensen C.V., Skovbo P., Sorensen A.N. The rate of invasive testing for trisomy 21 is reduced after implementation of NIPT. Dan. Med. J. 2017; 64(4). A5359.
  23. Chetty S., Garabedian M.J., Norton M.E. Uptake of noninvasive prenatal testing (NIPT) in women following positive aneuploidy screening. Prenat. Diagn. 2013; 33(6): 542-6. https://dx.doi.org/10.1002/pd.4125.

Supplementary files

Supplementary Files
Action
1. JATS XML
Download

This website uses cookies

You consent to our cookies if you continue to use our website.

About Cookies