New approaches to prenatal screening for chromosomal abnormalities: Maternal blood DNA screening
- Autores: Sukhikh G.T.1, Trofimov D.Y.2, Barkov I.Y.2, Donnikov A.E.2, Shubina E.S.1, Korostin D.O.2, Ekimov A.N.2, Goltsov A.Y.2, Bakharev V.A.2, Karetnikova N.A.2, Borovikov P.I.1, Tetruashvili N.K.2, Kim L.V.1, Gata A.S.2, Pavlovich S.V.2, Skryabin K.G.3, Prokhorchuk E.B.3, Mazur A.M.3, Pantyukh K.S.3
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Afiliações:
- Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia
- Research Center of Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia
- M.V. Lomonosov Moscow State University
- Edição: Nº 8 (2016)
- Páginas: 72-78
- Seção: Articles
- URL: https://journals.eco-vector.com/0300-9092/article/view/247777
- DOI: https://doi.org/10.18565/aig.2016.8.72-78
- ID: 247777
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Sobre autores
Gennady Sukhikh
Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia
Email: g_sukhikh@oparina4.ru
MD, PhD, director
Dmitry Trofimov
Research Center of Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia
Email: d_trofimov@oparina4.ru
PhD, Professor, Head of molecular genetic methods laboratory
Ilya Barkov
Research Center of Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia
Email: i_barkov@oparina4.ru
MD, clinical geneticist at molecular genetic methods laboratory
Andrey Donnikov
Research Center of Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia
Email: a_donnikov@oparina4.ru
PhD in medical sciences, leading researcher at molecular genetic methods laboratory
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 Korostin
Research Center of Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia
Email: d_korostin@oparina4.ru
junior researcher at molecular genetic methods laboratory
Alexey Ekimov
Research Center of Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia
Email: aekimov@gmail.com
MD, molecular genetic methods laboratory
Andrey Goltsov
Research Center of Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia
Email: g_goltsov@oparina4.ru
researcher at molecular genetic methods laboratory
Vladimir Bakharev
Research Center of Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia
Email: v_bakharev@oparina4.ru
MD, PhD, Professor, Head of the reproductive genetics laboratory
Nataliia Karetnikova
Research Center of Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia
Email: n_karetnikova@oparina4.ru
MD, PhD, Principal Researcher at the reproductive genetics laboratory
Pavel Borovikov
Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia
Email: p_borovikov@oparina4.ru
Head of the Laboratory of Bioinformatics
Nana Tetruashvili
Research Center of Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia
Email: tetrauly@mail.ru
MD, Head of the Threatened abortion prevention and treatment unit Department
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
Albina Gata
Research Center of Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia
Email: a_gata@oparina4.ru
PhD, Head of licensing and accreditation department
Stanislav Pavlovich
Research Center of Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia
Email: s_pavlovich@oparina4.ru
MD, PhD, Scientific secretary
Konstantin Skryabin
M.V. Lomonosov Moscow State University
Email: skryabin@biengi.ac.ru
PhD, Professor, Academician of Russian Academy of Sciences, Head of the Department of Biotechnology, Faculty of Biology
Egor Prokhorchuk
M.V. Lomonosov Moscow State University
Email: prokhortchouk@biengi.ac.ru
PhD, Professor of the Department of Biotechnology, Faculty of Biology
Alexander Mazur
M.V. Lomonosov Moscow State University
Email: mazur.am@gmail.com
PhD, Senior Lecturer of the Department of Biotechnology, Faculty of Biology
Katerina Pantyukh
M.V. Lomonosov Moscow State University
Email: pantiukh@gmail.com
PhD student of the Department of Biotechnology, Faculty of Biology
Bibliografia
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- 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)
- Norton M.E., Brar H., Weiss J., Karimi A., Laurent L.C., Caughey A.B. et al. Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18. Am. J. Obstet. Gynecol. 2012; 207(2): 137. e1-8.
- Dar P., Curnow K.J., Gross S.J., Hall M.P., Stosic M., Demko Z. et al. Clinical experience and follow-up with large scale single-nucleotide polymorphism-based noninvasive prenatal aneuploidy testing. Am. J. Obstet. Gynecol. 2014; 211(5): 527. e1-527. e17.
- Bhatt S., Parsa S., Snyder H., Taneja P., Halks-Miller M., Seltzer W., DeFeo E. Clinical laboratory experience with noninvasive prenatal testing: update on clinically relevant metrics. ISPD 2014 poster.
- Palomaki G.E., Kloza E.M., Lambert-Messerlian G.M., Haddow J.E., Neveux L.M., Ehrich M. et al. DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study. Genet. Med. 2011; 13(11): 913-20.
- 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.
- Nicolaides K.H., Musci T.J., Struble C.A., Syngelaki A., Gil M.M. Assessment of fetal sex chromosome aneuploidy using directed cell-free DNA analysis. Fetal Diagn. Ther. 2014; 35(1): 1-6.
- Porreco R.P., Garite T.J., Maurel K., Marusiak B., Ehrich M., van den Boom D. et al. Noninvasive prenatal screening for fetal trisomies 21, 18, 13 and the common sex chromosome aneuploidies from maternal blood using massively parallel genomic sequencing of DNA. Am. J. Obstet. Gynecol. 2014; 211(4): 365. e1-12.
- Jiang F., Ren J., Chen F., Zhou Y., Xie J., Dan S. et al. Noninvasive Fetal Trisomy (NIFTY) test: an advanced noninvasive prenatal diagnosis methodology for fetal autosomal and sex chromosomal aneuploidies. BMC Medical Genomics. 2012; 5: 57.
- Fleiss J.L. Statistical methods for rates and proportions. 2nd ed. New York: John Wiley & Sons; 1981.
- Ижевская В.Л. Старые заботы и новые этические проблемы в пренатальной диагностике. Медицинская генетика. 2015; 14(4): 67. [Izhevskaya V.L. Old concerns and new ethical issues in prenatal diagnostics. Meditsinskaya genetika. 2015; 14(4): 67. (in Russian)]
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