NON-INVASIVE PRENATAL DNA SCREENING USING HIGH-THROUGHPUT SEQUENCING IN PREGNANT WOMEN WITH RECURRENT MISCARRIAGE


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Abstract

Aim. To investigate the effectiveness of non-invasive prenatal DNA screening (NIPS) for aneuploidy using high-throughput sequencing for the detection of trisomy 21, 18, 13 and fetal sex chromosomes in maternal plasma of women both with and without a history of recurrent pregnancy loss. Material and methods. NIPS using the high-throughput sequencing was carried out and the results obtained from 600pregnant women with recurrent miscarriage (n=270) and uncomplicated obstetric history (n=330). To confirm chromosomal aneuploidy (CA), karyotyping was used. Results. After 12 weeks of gestation, the frequency of CA in each study group was 3.0% and did not differ between women with recurrent miscarriage and uncomplicated obstetric history. The sensitivity and specificity of NIPS in detecting the most frequent CA was 92% and 99%, respectively. Down syndrome was determined with 100% specificity. Conclusion. The study finding showed that NIPS is accurate in screening for fetal CA from early pregnancy, which is especially important in patients with recurrent miscarriage since it spares them from invasive testing thus preventing iatrogenic complications.

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About the authors

Gennady T. Sukhikh

National Medical Research Center of Obstetrics, Gynecology and Perinatology named after Academician V.I. Kulakov, Ministry of Health of Russia

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

Nana K. Tetruashvili

National Medical Research Center of Obstetrics, Gynecology and Perinatology named after Academician V.I. Kulakov, Ministry of Health of Russia

Email: tetrauly@mail.ru
Doctor of Medicine, Head of the Department of Pregnancy Loss Prevention and Therapy Moscow 117997, Ac. Oparina str. 4, Russia

Lyudmila V. Kim

National Medical Research Center of Obstetrics, Gynecology and Perinatology named after Academician V.I. Kulakov, Ministry of Health of Russia

Email: kimika@list.ru
Graduate student, Department of Pregnancy Loss Prevention and Therapy Moscow 117997, Ac. Oparina str. 4, Russia

Dmitry Y. Trofimov

National Medical Research Center of Obstetrics, Gynecology and Perinatology named after Academician V.I. Kulakov, Ministry of Health of Russia

Email: d_troflmov@oparina4.ru
Head of Clinical and molecular genetics department Moscow 117997, Ac. Oparina str. 4, Russia

Ilya Y. Barkov

National Medical Research Center of Obstetrics, Gynecology and Perinatology named after Academician V.I. Kulakov, Ministry of Health of Russia

Email: i_barkov@oparina4.ru
MD, clinical geneticist at molecular genetics laboratory Moscow 117997, Ac. Oparina str. 4, Russia

Ekaterina S. Shubina

National Medical Research Center of Obstetrics, Gynecology and Perinatology named after Academician V.I. Kulakov, Ministry of Health of Russia

Email: e_shubina@oparina4.ru
Junior researcher, of molecular genetics laboratory Moscow 117997, Ac. Oparina str. 4, Russia

Nane G. Parsadanyan

National Medical Research Center of Obstetrics, Gynecology and Perinatology named after Academician V.I. Kulakov, Ministry of Health of Russia

Email: nnnpars@mail.ru
candidate of Medicine, obstetrician-gynecologist, Department of Pregnancy Loss Prevention and Therapy Moscow 117997, Ac. Oparina str. 4, Russia

Nataliy I. Fedorova

National Medical Research Center of Obstetrics, Gynecology and Perinatology named after Academician V.I. Kulakov, Ministry of Health of Russia

Email: natasha_fedorova@mail.ru
candidate of Medicine, obstetrician-gynecologist Moscow 117997, Ac. Oparina str. 4, Russia

Andrey Y. Goltsov

National Medical Research Center of Obstetrics, Gynecology and Perinatology named after Academician V.I. Kulakov, Ministry of Health of Russia

Email: g_goltsov@oparina4.ru
researcher at molecular genetic methods laboratory Moscow 117997, Ac. Oparina str. 4, Russia

References

  1. Nagaoka S.I., Hassold T.J., Hunt P.A. Human aneuploidy: mechanisms and new insights into an age-old problem. Nat. Rev. Genet. 2012; 13(7): 493-504.
  2. Hook E.G. Epidemiology of Down syndrome. In: Pueschel S.M., Rynders J.E., eds. Down syndrome. Advances in biomedicine and the behavioral sciences. Cambridge: Ware Press; 1982: 11-88.
  3. Pont S.J, Robbins J.M., Bird T.M., Gibson J.B., Cleves M.A., Tilford J.M., Aitken M.E. Congenital malformations among liveborn infants with trisomies 18 and 13. Am. J. Med. Genet. 2006; 140(16): 1749-56.
  4. Cereda A., Carey J.C. The trisomy 18 syndrome. Orphanet. J. Rare Dis. 2012; 7: 81.
  5. Кащеева Т.К., Лязина Л.В., Вохмянина Н.В., Кузнецова Т.В., Романенко О.П., Баранов В.С. Анализ случаев рождения детей с болезнью Дауна в Санкт-Петербурге в 1997-2006 годах. Журнал акушерства и женских болезней. 2007; 56(1): 11-5
  6. Lo Y.M., Corbetta N, Chamberlain P.F., Rai V., Sargent I.L., Redman C.W., Wainscoat J.S. Presence of fetal DNA in maternal plasma and serum. Lancet. 1997; 350(9076): 485-7.
  7. Fauzdar A. Non-invasive prenatal testing (NIPT): a better option for patients. Mol. Cytogenet. 2014; 7(Suppl. 1): I17.
  8. Alberry M., Maddocks D., Jones M., Abdel Hadi M., AbdelFattah S., Avent N., Soothill P.W. Free fetal DNA in maternal plasma in anembryonic pregnancies: confirmation that the origin is the trophoblast. Prenat. Diagn. 2007; 27(5): 415-8.
  9. Gregg A.R., Gross S.J., Best R.G., Monaghan K.G., Bajaj K., Skotko B.G. et al. ACMG statement on noninvasive prenatal screening for fetal aneuploidy. Genet. Med. 2013; 15(5): 395-8.
  10. Agarwal A., Sayres L.C., Cho M.K., Cook-Deegan R., Chandrasekharan S. Commercial landscape of noninvasive prenatal testing in the United States. Prenat. Diagn. 2013; 33(6): 521-31.
  11. Neyt M., Hulstaert F., Gyselaers W. Introducing the non-invasive prenatal test for trisomy 21 in Belgium: a cost-consequences analysis. BMJ Open. 2014; 4(11): e005922.
  12. Benn P., Cuckle H., Pergament E. Non-invasive prenatal testing for aneuploidy: current status and future prospects. Ultrasound Obstet. Gynecol. 2013; 42(1): 15-33.
  13. Wataganara T., Peter I., Messerlian G.M., Borgatta L., Bianchi D.W. Inverse correlation between maternal weight and second trimester circulating cell-free fetal DNA levels. Obstet. Gynecol. 2004; 104(3): 545-50.
  14. Fan H.C., Blumenfeld Y.J., Chitkara U., Hudgins L., Quake S.R. Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood. Proc. Natl. Acad. Sci. USA. 2008; 105(42): 16266-71.
  15. Ong F.S., Lin J.C., Das K., Grosu D.S., Fan J.B. Translational utility of next-generation sequencing. Genomics. 2013; 102(3): 137-9.
  16. Айламазян Э.К., Мозговая Е.В. Гестоз: теория и практика. М.: МЕДпресс-информ; 2008. [Aylamazyan E.K., Mozgovaya E.V. Gestosis: theory and practice. Moscow: MEDpress-inform; 2008. (in Russian)]
  17. Сухих Г.Т., Каретникова Н.А., Баранова Е.Е., Шубина Е.С., Коростин Д.О., Екимов А.Н., Парсаданян Н.Г., Гус А.И., Бахарев В.А., Трофимов Д.Ю., Воеводин С.М., Тетруашвили Н.К. Неинвазивная пренатальная диагностика анеуплоидий методом высокопроизводительного секвенирования (NGS) в группе женщин высокого риска. Акушерство и гинекология. 2015; 4: 5-10.
  18. Bianchi D.W., Wilkins-Haug L. Integration of noninvasive DNA testing for aneuploidy into prenatal care: what has happened since the rubber met the road? Clin. Chem. 2014; 60(1): 78-87.
  19. Бахарев В.А., Каретникова Н.А., Стыгар А.М., Иванец Т.Ю. Неинвазивный скрининг беременных. Акушерство и гинекология. 2012; 4-1: 26-31.
  20. Благодатских Е.Г. Использование циркулирующих ДНК и мРНК для неинвазивного пренатального определения пола, резус фактора и диагностики синдрома Дауна у плода: автореф. дисс.. канд. биол. наук. М.; 2010. 23с.
  21. Малышева О.В., Баранов В.С. Неинвазивная пренатальная диагностика. Проблемы, подходы и перспективы. Журнал акушерства и женских болезней. 2012; 61(3): 83-93.
  22. Радзинский В.Е., Костин И.Н. Преждевременные роды. Акушерство и гинекология. 2009; 4: 16-9.
  23. Курцер М.А., Гнетецкая В.А. Диагностика хромосомных анеуплоидий с помощью неинвазивного пренатального теста. Акушерство и гинекология. 2015; 8: 65-9.
  24. Morain S., Greene M.F., Mello M.M. A new era in noninvasive prenatal testing. N. Engl. J. Med. 2013; 369(6): 499-501.
  25. Van Lith J.M., Faas B.H., Bianchi D.W. Current controversies in prenatal diagnosis 1: NIPT for chromosome abnormalities should be offered to women Prenat. Diagn. 2015; 35(1): 8-14.
  26. Song Y, Liu C, Qi H, Zhang Y, Bian X, Liu J. Noninvasive prenatal testing of fetal aneuploidies by massively parallel sequencing in a prospective Chinese population. Prenat. Diagn. 2013; 33(7): 700-6.
  27. Bianchi D.W., Parker R.L., Wentworth J., Madankumar R., Safer C., Das A.F. et al. DNA sequencing versus standard prenatal aneuploidy screening. N. Engl. J. Med. 2014; 370(9): 799-808.
  28. Lim J.H., Kim M.H., Han Y.J., Lee D.E., Park S.Y., Han J.Y., Kim M.Y., Ryu HM. Cell-free fetal DNA and cell-free total DNA levels in spontaneous abortion with fetal chromosomal aneuploidy. PLoS One. 2013; 8(2): e56787.
  29. Barrett A.N., Chitty L.S. Developing noninvasive diagnosis for single-gene disorders: the role of digital PCR. Methods Mol. Biol. 2014; 1160: 215-28.

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