SNP-Based Chromosomal Microarray Analysis for Detecting DNA Copy Number Variations in Fetuses with a Thickened Nuchal Fold.

Autor:	Kievskaya JK; Geneticist; Genomed Ltd., 8, Bldg 5 Podolskoe Shosse, Moscow, 115093, Russia., Shilova NV; Head of the Laboratory of Molecular Cytogenetics; Research Centre for Medical Genetics, 1 Moskvorechye St., Moscow, 115522, Russia., Kanivets IV; Geneticist; Genomed Ltd., 8, Bldg 5 Podolskoe Shosse, Moscow, 115093, Russia; Associate Professor, Department of Medical Genetics; Russian Medical Academy of Continuous Professional Education, 2/1, Bldg 1 Barricadnaya St., Moscow, 125993, Russia., Kudryavtseva EV; Associate Professor, Department of Obstetrics and Gynecology; Ural State Medical University, 3 Repina St., Ekaterinburg, 620028, Russia., Pyankov DV; Head of the Laboratory, Geneticist; Genomed Ltd., 8, Bldg 5 Podolskoe Shosse, Moscow, 115093, Russia., Korostelev SA; Professor, General Director; Genomed Ltd., 8, Bldg 5 Podolskoe Shosse, Moscow, 115093, Russia.
Jazyk:	angličtina
Zdroj:	Sovremennye tekhnologii v meditsine [Sovrem Tekhnologii Med] 2021; Vol. 13 (6), pp. 72-76. Date of Electronic Publication: 2021 Dec 28.
DOI:	10.17691/stm2021.13.6.08
Abstrakt:	The aim of the study was to assess the diagnostic potential of SNP-based chromosomal microarray analysis for detecting pathogenic copies number variations (CNVs) in fetuses with a normal karyotype, in which an increase in the nuchal translucence of >2.5 mm was detected by ultrasound at a gestational age of 11 weeks to 13 weeks 6 days. Materials and Methods: The study included 225 pregnant women who underwent invasive prenatal diagnostic procedures following the detection of an isolated thickening of the fetal nuchal fold. The fetal material obtained was examined using a cytogenetic test; if a normal karyotype was confirmed, chromosomal microarray analysis was performed as a second-line test. Results: Pathogenic CNVs were detected in 22 of 225 fetuses (9.8%) with a normal karyotype. Of these 22 fetuses, pathogenic CNVs not classified as syndromes were detected in 14 cases (63.6%), and those previously described as syndromes - in 8 cases (36.4%). In 9 fetuses (41%), CNVs in two non-homologous chromosomes were determined; these findings indicated a high likelihood of carrying balanced translocations in the parents. Indeed, when analyzing the parent's karyotype, in 8 out of 9 couples, balanced translocations were found in one of the parents. Conclusion: Using chromosomal microarray analysis in fetuses with a thickened nuchal fold makes it possible to increase the ability to detect chromosomal imbalances, including those caused by pathological meiotic segregation of parental reciprocal translocation. Competing Interests: Conflicts of interest. The authors declare no obvious or potential conflicts of interest related to this publication.
Databáze:	MEDLINE
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