Нypeгtriploidy as a cause of early embryonic arrest
https://doi.org/10.23946/2500-0764-2020-5-1-99-102
Abstract
Chromosomal abnormalities are a leading cause of early embryonic arrest Identification of genetic abnormalities incompatible with embryonic development significantly contributes to the understanding of early embryonic arrest causes and to the development of prevention strategies. Here we describe a case of hypertriploid abortus with 70, XXY,+16 karyotype. This chromosomal abnormality led to the early embryonic arrest at 4 weeks and 5 days of pregnancy.
The clinical report emphasizes the necessity for the cytogenetic analysis of abortion material in the patients who underwent a reproductive failure.
About the Authors
A. N. VolkovRussian Federation
Dr. Alexey N. Volkov - PhD, Associate Professor, Department of Biology, Genetics and Parasitology; Senior Researcher, Central Research Laboratory, KSMU; Biologist, Department of Genetic Counseling Unit, Belyaev KRCH.
22a, Voroshilova Street, Kemerovo, 650056; 22, Oktyabr'skiy Avenue, Kemerovo, 650056
L. V. Nacheva
Russian Federation
Prof. Lyubov V Nacheva - MD, PhD, Professor, Head of the Department of Biology, Genetics, and Parasitology.
22a, Voroshilova Street, Kemerovo, 650056
References
1. Russo R, Sessa AM, Fumo R, Gaeta S. Chromosomal anomalies in early spontaneous abortions: interphase FISH analysis on 855 FFPE first trimester abortions. Prenatal Diagnosis. 2016;36(2):186-191. https://doi.org/10.1002/pd.4768
2. Volkov AN, Rytenkova OI, Babarykina TA, Lysenko DI. The cytogenetic diagnostic of chromosome anomalies under non-developing pregnancy. Russian Clinical Laboratory Diagnostics. 2017;62(9):553-556. (In Russ.). https://doi.org/10.18821/0869-2084-2017-62-9-553-556
3. Tikhomirova SV, Diunov AG, Guriev DL, Nestuley SYu. Analysis of abnormalities of chorion karyotype in cases of non-developing pregnancy. Medical Genetics. 2016;15(5(167)):45-47. (In Russ.).
4. Van den Berg MM, van Maarle MC, van Wely M, Goddi-jn M. Genetics of early miscarriage. Biochim Biophys Acta. 2012;1822(12):1951-1959. https://doi.org/10.1016/j.bba-dis.2012.07.001
5. Chiryaeva OG, Petrova LI, Sadik NA, Dudkina VS, Pendina AA, Fedorova ID, Kuznetzsova TV, Baranov VS. Direct Cytogenetic Study of Chorionic Samples From The Arrested Pregnancy Tissues. Journal of Obstetrics and Women's Diseases. 2007; LVI(1):35-45. (In Russ.).
6. Philipp T, Philipp K, Reiner A, Beer F, Kalousek DK. Embryo-scopic and cytogenetic analysis of 233 missed abortions: factors involved in the pathogenesis of developmental defects of early failed pregnancies. Hum Reprod. 2003;18(8):1724-1732. https://doi.org/10.1093/humrep/deg309
7. Baranov VS, Kuznetzova TV. Tsitogenetika embrional'nogo razvitiya cheloveka. Saint-Petersburg: Izdatel’stvo N-L; 2007. (In Russ.).
8. Shaffer LJ, McGowan-Jordan J, Schmid M. ISCN 2013: An International System for Human Cytogenetic Nomenclature (2013). Basel: Karger; 2013.
9. Jacobs P, Hassold T. The origin of numerical chromosome abnormalities. Adv. Genet. 1995;33:101-133. https://doi.org/10.1016/s0065-2660(08)60332-6
10. Jobanputra V, Sobrino A, Kinney A, Kline J, Warburton D. Multiplex interphase FISH as a screen for common aneuploidies in spontaneous abortions. Human Reproduction. 2002;17(5):1166-1170. https://doi.org/10.1093/humrep/17.5.1166
Review
For citations:
Volkov A.N., Nacheva L.V. Нypeгtriploidy as a cause of early embryonic arrest. Fundamental and Clinical Medicine. 2020;5(1):99-102. (In Russ.) https://doi.org/10.23946/2500-0764-2020-5-1-99-102