Current possibilities of prenatal diagnosis in a fetus with increased collarspace thickness
- Authors: Karetnikova N.A.1, Ekimov A.N.1, Baranova E.E.1, Bakharev V.A.1, Trofimov D.Y.1, Gus A.I.1
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Affiliations:
- Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia
- Issue: No 2 (2016)
- Pages: 70-76
- Section: Articles
- URL: https://journals.eco-vector.com/0300-9092/article/view/247603
- DOI: https://doi.org/10.18565/aig.2016.2.70-76
- ID: 247603
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Abstract
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About the authors
Natalia A. Karetnikova
Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia
Email: n_karetnikova@oparina4.ru
MD, PhD, Principal Researcher at the Laboratory of Reproductive Genetics
Aleksey N. Ekimov
Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia
Email: a_ekimov@oparina4.ru
MD, Laboratory of Molecular Genetic Techniques
Elena E. Baranova
Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia
Email: e_baranova@oparina4.ru
MD, Laboratory of Reproductive Genetics
Vladimir A. Bakharev
Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia
Email: v_bakharev@oparina4.ru
MD, PhD, Head of the Laboratory of Reproductive Genetics
Dmitry Yu. Trofimov
Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia
Email: d_troflmov@oparina4.ru
PhD, Head of the Laboratory of Molecular Genetic Techniques
Aleksandr I. Gus
Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia
Email: a_gus@oparina4.ru
MD, PhD, Professor, Head of the Department of the functional diagnosis
References
- Nicolaides K.H., Azar G., Byrne D., Mansur C., Marks K. Fetal nuchal translucency: ultrasound screening for chromosomal defects in first trimester of pregnancy. Br. Med. J. 1992; 304(6831): 867-9.
- Chanprapaph P., Dulyakasem C., Phattanchindakun B. Sensitivity of multiple first trimester sonomarkers in fetal aneuploidy detection. J. Perinat. Med. 2015; 43(3): 359-65.
- Медведев М.В., Алтынник Н.А. Основы ультразвукового скрининга в 11-14 недель беременности. Практическое пособие для врачей. 2-е изд. М.: Реал Тайм; 2009. 96с. [Medvedev M.V., Altynnik N.A. Basics of ultrasound screening in 11-14 weeks of pregnancy. A practical guide for physicians. 2nd ed. Moscow: Real Time; 2009. 96p. (in Russian)]
- Munne S. Preimplantation genetic diagnosis for aneuploidy and translocations using array comparative genomic hybridization. Curr. Genomics. 2012; 13(6): 463-70.
- Huang J., Poon L.C., Akolekar R., Choy K.W., Leung T.Y., Nicolaides K.H. Is high fetal nuchal translucency associated with submicroscopic chromosomal abnormalities on array CGH? Ultrasound Obstet. Gynecol. 2014; 43(6): 620-4.
- Головатая Е.И., Прибушеня О.В., Лазюк Г.И. Биопсия ворсин хориона первого триместра: некоторые цитогенетические и акушерские аспекты. Медицинская генетика. 2006; 5(10): 8-12. [Golovataya E.I., Pribushenya O.V., Lazyuk G.I. CVS first trimester: some cytogenetic and obstetrical aspects. Meditsinskaya genetika. 2006; 5(10): 8-12. (in Russian)]
- Коротеев А.Л. Инвазивные вмешательства в пренатальной диагностике наследственных и врожденных болезней. Журнал акушерства и женских болезней. 2007; 56(1): 110-9. [Koroteev A.L. Invasive interventions in the prenatal diagnosis of congenital and hereditary diseases. Zhurnal akusherstva i zhenskih bolezney. 2007; 56(1): 110-9. (in Russian)]
- Moorhead P.S., Nowell P.C., Mellman W.J., Battips D.M., Hungerford D.A. Chromosome preparations of leukocytes cultured from human peripheral blood. Exp. Cell Res. 1960; 20: 613-6.
- Kearney H.M., Thorland E.C., Brown K.K., Quintero-Rivera E., South S.T. American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants. Genet. Med. 2011; 13(7): 680-5.
- American College of Obstetricians and Gynecologists Committee on Genetics. Committee Opinion No. 581: the use of chromosomal microarray analysis in prenatal diagnosis. Obstet. Gynecol. 2013; 122(6): 1374-7.
- Borruto F., Comparetto C., Acanfora L., Bertini G., Rubaltelli F.F. Role of ultrasound evaluation of nuchal translucency in prenatal diagnosis. Clin. Exp. Obstet. Gynecol. 2002; 29(4): 235-41.
- Lichtenbelt K.D., Diemel B.D., Koster M.P., Manten G.T., Siljee J., Schuring-Blom G.H., Page-Christiaens G.C. Detection of fetal chromosomal anomalies: does nuchal translucency measurement have added value in the era of noninvasive prenatal testing? Prenat. Diagn. 2015; 35(7): 663-8.
- Pajkrt E., Bilardo C.M., Van Lith J.M., Mol B.W., Bleker O.P. Nuchal translucency measurement in normal fetuses. Obstet. Gynecol. 1995; 86(6): 994-7.
- Baer R.J., Norton M.E., Shaw G.M., Flessel M.C., Goldman S., Currier R.J., Jelliffe-Pawlowski L.L. Risk of selected structural abnormalities in infants after increased nuchal translucency measurement. Am. J. Obstet. Gynecol. 2014; 211(6): 675. e1-19.
- Souka A.P., Snijders R.J., Novakov A., Soares W., Nicolaides K.H. Defects and syndromes in chromosomally normal fetuses with increased nuchal translucency thickness at 10-14 weeks of gestation. Ultrasound Obstet. Gynecol. 1998; 11(6): 391-400.
- Herman A., Dreazen E., Samandarov A., Bukovsky Y., Weinraub Z., Maymon R. On-to-on versus on-to-out nuchal translucency measurements. Ultrasound Obstet. Gynecol. 2000; 15(2): 126-30.
- Bijok J., Ziora-Jakutowicz K., Ilnicka A., Pawkowska B., Jóźwiak A., Dangel J. et al. Increased nuchal translucency in chromosomally normal fetuses and pregnancy outcomes--a retrospective study. Ginekol. Pol. 2013; 84(3): 172-9.
- Grande M., Arigita M., Borobio V., Jimenez J.M., Fernandez S., Borrell A. First-trimester detection of structural abnormalities and the role of aneuploidy markers. Ultrasound Obstet. Gynecol. 2012;39(2): 157-63.
- Whitlow B.J., Chatzipapas I.K., Lazanakis M.L., Kadir R.A., Economides D.L. The value of sonography in early pregnancy for the detection of fetal abnormalities in an unselected population. Br. J. Obstet. Gynaecol. 1999; 106(9): 929-36.