Copy number variant sequencing for chromosome analysis in 487 fetuses with increased nuchal translucency
10.3760/cma.j.cn113903-20210628-00589
- VernacularTitle:低深度高通量全基因组拷贝数变异测序在487例颈项透明层增厚胎儿染色体分析中的应用
- Author:
Zhi GAO
1
;
Tianyuan ZHANG
;
Wei HUANG
;
Yanfei WANG
;
Panlai SHI
;
Xiangdong KONG
Author Information
1. 郑州大学第一附属医院遗传与产前诊断中心，郑州 450052
- Keywords:
Nuchal translucency measurement;
Chromosome aberrations;
DNA copy number variations;
High-throughput nucleotide sequencing
- From:
Chinese Journal of Perinatal Medicine
2022;25(3):186-191
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To analyze the genetic etiology of 487 fetuses with increased nuchal translucency (NT) using copy number variant sequencing (CNV-seq) and explore the relationship between increased NT and chromosomal abnormality.Methods:A retrospective study was performed on 487 fetuses with increased NT who received CNV-seq in the First Affiliated Hospital of Zhengzhou University from January 2018 to December 2020. These fetuses either had NT of ≥3.0-<3.5 mm (Group A, n=129) or ≥3.5 mm (Group B, n=358), the distribution and incidence of chromosomal abnormalities in the two sets of fetuses were analyzed using Chi square test or Fisher's exact test. Results:Fetuses with abnormal chromosomes accounted for 25.9%(126/487) of cases, including 107 with chromosome aneuploidy (22.0%) and 19 with pathogenic or likely pathogenic copy number variation (CNV, 3.9%). The detection rate of fetal aneuploidy in Group B was higher than that in Group A [14.0% (18/129) vs 24.9% (89/358), χ2=6.58, P=0.010]. However, no significant difference was observed regarding the detection rate of pathogenic or likely pathogenic CNV between the two groups ( χ2=0.30, P=0.584). Conclusions:The risk of fetal chromosome aneuploidy increased with NT thickness, but not with pathogenic or likely pathogenic CNV, which needed further verification due to the small sample size. CNV-seq is an option to detect the conventional detection methods for the genetic etiology of NT thickening fetuses.
