Range of the rare chromosomal abnormalities diagnosed prenatally at fetuses with increased nuchal translucency

Zolotukhina, T. V.; Владимировна, Золотухина Татьяна; Yudina, Yelena Vladimirovna; Владимировна, Юдина Елена; Shilova, N.V.; Владимировна, Шилова Надежда; Minzhenkova, Marina E.; Евгеньевна, Миньженкова Марина; Kozlova, Yuliya Olegovna; Олеговна, Козлова Юлия; Маркова, Ж. Г.; Геннадиевна, Маркова Жанна

doi:10.17816/jowd62288-92

Cited by 1 publication

(1 citation statement)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…With an increase in NT up to >2.5 mm, further karyotyping reveals chromosomal aneuploidies (CA) in about 38% of fetuses, and 61% of them are due to trisomy 21 [3,4]. It is known that a thickened nuchal fold is a polypotential factor, since in these fetuses, not only CA frequency but also risks of congenital malformations (primarily heart defects) increase [5].…”

Section: Introductionmentioning

confidence: 99%

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

Kievskaya¹,

Shilova²,

Канивец³

et al. 2021

Sovrem Tehnol Med

View full text Add to dashboard Cite

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.

show abstract

Section: Introductionmentioning

confidence: 99%