Fetal mosaicism as a cause of false-negative noninvasive prenatal DNA screening for chromosome 21 aneuploidies
- Authors: Shubina J.1, Barkov I.Y.1, Stupko O.K.1, Kuznetsova M.V.1, Krasheninnikova R.V.1, Kim L.V.1, Tetruashvili N.K.1, Goltsov A.Y.1, Kochetkova T.O1, Mukosey I.S.1, Karetnikova N.A.1, Bakharev V.A.1, Trofimov D.Y.1
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Affiliations:
- Academician V.I. Kulakov National Medical Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia
- Issue: No 11 (2018)
- Pages: 31-34
- Section: Articles
- URL: https://journals.eco-vector.com/0300-9092/article/view/248287
- DOI: https://doi.org/10.18565/aig.2018.11.31-34
- ID: 248287
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About the authors
Jekaterina Shubina
Academician V.I. Kulakov National Medical Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia
Email: jekaterina.shubina@gmail.com
Junior researcher, of molecular genetics laboratory
Ilya Y. Barkov
Academician V.I. Kulakov National Medical Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia
Email: i_barkov@oparina4.ru
MD, clinical geneticist at molecular genetics laboratory
Olga K. Stupko
Academician V.I. Kulakov National Medical Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia
Email: o_stupko@oparina4.ru
clinical geneticist at laboratory of Reproductive Genetics
Maria V. Kuznetsova
Academician V.I. Kulakov National Medical Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia
Email: m_kuznetsova@oparina4.ru
PhD, Researcher at molecular genetic methods laboratory
Regina V. Krasheninnikova
Academician V.I. Kulakov National Medical Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia
Email: r_krasheninnikova@oparina4.ru
clinical laboratory diagnostics doctor at molecular genetic methods laboratory
Lyudmila V. Kim
Academician V.I. Kulakov National Medical 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
Nana K. Tetruashvili
Academician V.I. Kulakov National Medical 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
Andrey Y. Goltsov
Academician V.I. Kulakov National Medical Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia
Email: g_goltsov@oparina4.ru
Researcher at molecular genetic methods laboratory
T. O Kochetkova
Academician V.I. Kulakov National Medical Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia
Email: t_kochetkova@oparina4.ru
biologist of molecular genetics laboratory
Irina S. Mukosey
Academician V.I. Kulakov National Medical Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia
Email: i_mukosey@oparina4.ru
Junior researcher, of molecular genetics laboratory
Natalia A. Karetnikova
Academician V.I. Kulakov National Medical Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia
Email: n_karetnikova@oparina4.ru
PhD, Senior Researcher, Laboratory of Reproductive Genetics
Vladimir A. Bakharev
Academician V.I. Kulakov National Medical Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia
Email: vbaharev@oparina4.ru
PhD, MD, professor, Chief Researcher, Laboratory of Reproductive Genetics
Dmitry Yu. Trofimov
Academician V.I. Kulakov National Medical Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia
Email: d_troflmov@oparina4.ru
Ph.D., Head of Clinical and molecular genetics department
References
- Zhang H., Gao Y., Jiang F., Fu M., Yuan Y., Guo Y. et al. Non-invasive prenatal testing for trisomies 21, 18 and 13: Clinical experience from 146 958 pregnancies. Ultrasound Obstet. Gynecol. 2015; 45(5): 530-8.
- Hartwig T.S., Ambye L., Sorensen S., Jorgensen F.S. Discordant non-invasive prenatal testing (NIPT) - a systematic review. Prenat. Diagn. 2017; 37(6): 527-39.
- Canick J.A., Palomaki G.E., Kloza E.M., Lambert-Messerlian G.M., Haddow J.E. The impact of maternal plasma DNA fetal fraction on next generation sequencing tests for common fetal aneuploidies. Prenat. Diagn. 2013; 33(7): 667-74.
- Smith M., Lewis K.M., Holmes A., Visootsak J. A case of false negative NIPT for Down syndrome-lessons learned. Case Rep. Genet. 2014; 2014: 823504.
- Hochstenbach R., Page-Christiaens G.C., van Oppen A.C., Lichtenbeit K.D., van Harssel J.J., Brouwer T. et al. Unexplained false negative results in noninvasive prenatal testing: two cases involving trisomies 13 and 18. Case Rep. Genet. 2015; 2015:926545.
- Wang Y., Zhu J., Chen Y., Lu S., Chen B., Zhao X. et al. Two cases of placental T21 mosaicism: challenging the detection limits of non-invasive prenatal testing. Prenat. Diagn. 2015; 33(12): 1207-10.
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