Noninvasive prenatal DNA test as a screening procedure for women from different risk groups: A view on the problem


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Objective. To evaluate the efficiency of a noninvasive prenatal test (NIPT) to identify chromosomal anomalies in maternal blood samples. Material and methods. The review included the data of foreign and Russian articles published in the past 15 years and found in Pubmed on this topic. Results. This review gives the results of recent studies determining the sensitivity, specificity, and accuracy of the noninvasive prenatal DNA test versus conventional screening techniques for pregnant women. It sets forth leading obstetric societies’ viewpoints about the place of this screening technique in prenatal testing. Conclusion. NIPT is a promising prenatal screening technique for its clinical introduction, by complying with the legal norms.

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Sobre autores

Nana Tetruashvili

Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Email: tetrauly@mail.ru
Doctor of Medicine, Head of the Department of Pregnancy Loss Prevention and Therapy

Lyudmila Kim

Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Email: kimika@list.ru
Graduate student, Department of Pregnancy Loss Prevention and Therapy

Nane Parsadanyan

Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Email: nnnpars@mail.ru
Candidate of Medicine, obstetrician-gynecologist, Department of Pregnancy Loss Prevention and Therapy

Nataliy Fedorova

Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Email: natasha_fedorova@mail.ru
candidate of Medicine, obstetrician-gynecologist

I. Barkov

Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Ekaterina Shubina

Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Email: e_shubina@oparina4.ru
Graduate student, laboratory of molecular genetic methods

Dmitrii Trofimov

Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Email: d_trofimov@oparina4.ru
Ph.D. in medical sciences, Head of Laboratory of molecular genetic methods

Bibliografia

  1. Айламазян Э.К., Кулаков В.И., Радзинский В.Е., Савельева Г.М., ред. Акушерство. Национальное руководство. М.: ГЭОТАР-Медиа; 2009. 1218 с. [Ailamazyan E.K., Kulakov V.I., Radzinsky V.E., Savelyeva G.M., ed. Obstetrics. National guideline. Moscow: GEOTAR-Media; 2009. 1218 p. (in Russian)]
  2. 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.
  3. 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.
  4. Серова О.Ф., Тамазян Г.В., Соваев Н.И. и др. Клиническое значение морфофункционального состояния эндометрия при нарушениях репродуктивной функции. Вопросы гинекологии, акушерства и перинатологии. 2010; 9(4): 43-48. [Serova O.F., Tamazyan G.V., Sovaev N.I. et al. The clinical significance of morpho-functional state of the endometrium during reproductive disorders. Voprosyi ginekologii, akusherstva i perinatologii. 2010; 9(4): 43-48. (in Russian)]
  5. 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.
  6. Van Lith J.M.M., Faas B.H.W., Bianchi D.W. Current controversies in prenatal diagnosis 1: NIPT for chromosome abnormalities should be offered to women with low a prioririsk. Prenatal Diagnosis. 2015; (35): 8-14.
  7. Morain S., Greene M.F, Mello M.M. A new era in noninvasive prenatal testing. N. Engl. J. Med. 2013; 369(6): 499-501.
  8. Masuzaki H., Miura K., Yoshiura K.I., Yoshimura S., Niikawa N., Ishimaru T. Detection of cell free placental DNA in maternal plasma: direct evidence from three cases of confined placental mosaicism. J. Med. Genet. 2004; 41(4): 289-92.
  9. Neyt M., Hulsstaert F., Gyselaers W. Introducing the non-invasive prenatal test for trisomy 21 in Belgium: a cost-consequences analysis. BMJ Open. 2014; 11: 5-15.
  10. Papageorgiou E.A., Patsalis P.C. Non-invasive prenatal diagnosis of aneuploidies: new technologies and clinical applications. Genome Med. 2012; 4(5): 46.
  11. Palomaki G.E., Deciu C., Kloza E.M., Lambert-Messerlian G.M., Haddow J.E., Neveux L.M. et al. DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study. Genet. Med. 2012; 14(3): 296-305.
  12. Lo Y.M., Hjelm N.M., Fidler C., Sargent I.L., Murphy M.F., Chamberlain P.F. et al. Prenatal diagnosis of fetal RhD status by molecular analysis of maternal plasma. N. Engl. J. Med. 1998; 339(24): 1734-8.
  13. Gil M.M., Quezada M.S., Bregant B., Ferraro M., Nicolaides K.H. Implementation of maternal blood cell-free DNA testing in early screening for aneuploidies. Ultrasound Obstet. Gynecol. 2013; 42(1): 34-40.
  14. Fairbrother G., Johnson S., Musci T.J., Song K. Clinical experience of noninvasive prenatal testing with cell-free DNA for fetal trisomies 21, 18, and 13, in a general screening population. Prenat. Diagn. 2013; 33(6): 580-3.
  15. 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.
  16. American College of Obstetricians Gynecologists Committee on Genetics. Committee Opinion no. 545: noninvasive prenatal testing for fetal aneuploidy. Obstet. Gynecol. 2012; 120(6): 1532-4.
  17. Futch T., Spinosa J., Bhatt S., de Feo E., Rava R.P., Sehnert A.J. Initial clinical laboratory experience in noninvasive prenatal testing for fetal aneuploidy from maternal plasma DNA samples. Prenat. Diagn. 2013; 33(6): 5 69-74.
  18. Wang S.J., Gao Z.Y., Lu Y.P., Li Y.L., You Y.Q., Zhang L.W. et al. Value of detection of cell-free fetal DNA in maternal plasma in the prenatal diagnosis of chromosomal abnormalities. Zhonghua Fu Chan Ke Za Zhi. 2012; 47(11): 808-12.
  19. Lim J.H., Kim M.H., Han Y.J., Lee da E., Park S.Y., Han J.Y. et al. Cell-free fetal DNA and cell-free total DNA levels in spontaneous abortion with fetal chromosomal aneuploidy. PLoS One. 2013; 8(2): e56787.
  20. 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.
  21. Ishihara N., Matsuo H., Murakoshi H., Laoag-Fernandez J.B., Samoto T., Maruo T. Increased apoptosis in the syncytiotrophoblast in human term placentas complicated by either PET or intrauterine growth retardation. Am. J. Obstet. Gynecol. 2002; 186(1): 158-66.
  22. Leung T.N., Lau T.K., Chung T.Kh. Thalassaemia screening in pregnancy. Curr. Opin. Obstet. Gynecol. 2005; 17(2): 129-34.
  23. 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. [Sukhikh G.T., Karetnikova N.A., Baranova E.E., Shubina E.S., Korostin D.O., Ekimov A.N., Parsadanyan N.G., Gus A.I., Bakharev V.A., Trofimov D.Yu., Voevodin S.M., Tetruashvili N.K. Noninvasive prenatal diagnosis of aneuploidies by next-generation sequencing (NGS) in a group of high-risk women. Akusherstvo i ginekologiya/Obstetrics and Gynecology. 2015; (4): 5-10. (in Russian)]
  24. Курцер М.А., Гнетецкая В.А. Диагностика хромосомных анеуплоидий с помощью неинвазивного пренатального теста. Акушерство и гинекология. 2015; 8: 65-9. [Kurtser M.A., Gnetetskaya V.A. A noninvasive prenatal test in the diagnosis of chromosome aneuploidies. Akusherstvo i ginekologiya/ Obstetrics and Gynecology. 2015; (8): 65-9. (in Russian)]

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