Rare trisomies: frequency, range, lethality at embryonic and fetal stages of prenatal development

Authors

DOI:

https://doi.org/10.15587/2519-4798.2017.94385

Keywords:

Chromosomal abnormalities, rare trisomy, mortality, Anembryonic gestation at the embryonic stage, fetal period

Abstract

Aim. The study of primary population frequency, mortality and share of rare autosomal trisomies at different stages of fetal development for the further determination of the expected proportion of false negative results at chromosome abnormalities (CA) selective diagnostics using during reproductive losses and prenatal diagnostics.

Materials and methods. Karyotyping of 1808 samples of missed abortion concept products, 1572 induced abortions, 1329 chorionic villus biopsy samples, 2240 placenta biopsy samples, and 6120 samples of amniotic fluid (13069 total) was carried out.

Results. The share of Т21,18,13 at pre-embryonic stage was only 6.33 %, while the share of “rare” trisomies was 93.67 %. In the first trimester the mean share of rare trisomies (Т1-12,14-17,19,20,22 ) was 41.13%; among prenatally diagnosed 11-14 weeks fetuses was 3.01 %, 15-22 weeks fetuses – 1.68 %, and after 23 weeks – 2.22 %. It means that the mean share of rare trisomies at prenatal diagnostics can be 2.3 % among newborns.

Conclusion. The share of false negative results at autosomal trisomies detection using commercial selective test systems covering Т13,Т18,Т21,Т9 and Т22 in missed abortion group can be 41 %, and at prenatal diagnostics within 11-23 weeks – 2.3 %

Author Biographies

Niсkolay Veropotvelyan, «Multiregional Centre of Medical Genetics and Prenatal Diagnostics» Vizvolennya sq., 3A, Krivoy Rog, Ukraine, 50000

PhD, Honored Doctor of Ukraine

Head doctor

Daria Nesterchuk, «Multiregional Centre of Medical Genetics and Prenatal Diagnostics» Vizvolennya sq., 3A, Krivoy Rog, Ukraine, 50000

Head of Laboratory, Doctor Laboratory Geneticist 

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Published

2017-02-28

How to Cite

Veropotvelyan, N., & Nesterchuk, D. (2017). Rare trisomies: frequency, range, lethality at embryonic and fetal stages of prenatal development. ScienceRise: Medical Science, (2 (10), 45–51. https://doi.org/10.15587/2519-4798.2017.94385

Issue

No. 2 (10) (2017)

Section

Medical Science

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Copyright (c) 2017 Niсkolay Veropotvelyan, Daria Nesterchuk

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