Analysis of karyotype and copy number variation in 386 fetuses with increased nuchal translucency
10.13602/j.cnki.jcls.2025.02.04
- VernacularTitle:386例颈项透明层增厚胎儿的染色体核型及拷贝数变异结果分析
- Author:
Yan TANG
1
;
Shoulian LU
1
;
Shengnan SONG
1
;
Jue WANG
1
;
Mingzhu MIAO
1
Author Information
1. 江苏省人民医院/南京医科大学第一附属医院/江苏省妇幼保健院产前诊断中心,南京 210029
- Publication Type:Journal Article
- Keywords:
increased nuchal translucency;
prenatal diagnosis;
chromosomal abnormalities;
copy number variation sequencing
- From:
Chinese Journal of Clinical Laboratory Science
2025;43(2):98-101
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the karyotypes and the correlation of chromosomal abnormalities in the fetuses with increased nu-chal translucency(NT),so as to provide a basis for prenatal genetic counseling.Methods The clinical data of 386 singleton pregnant women with NT≥2.5mm who underwent invasive prenatal diagnosis at the First Affiliated Hospital of Nanjing Medical University from January 2018 to April 2022 were retrospectively analyzed.The fetuses were grouped according to NT thickness(2.5-3.4,3.5-3.9,4.0-4.9,5.0-5.9,and ≥6.0 mm),fetal ultrasound abnormalities(isolated increased NT,non-isolated increased NT),and maternal age(advanced age ≥35 years,non-advanced age＜35 years).The chi-square test was used to compare the differences of the incidence of fetal chromosomal abnormalities among various groups.Results Among the 386 fetuses with increased NT,chromosomal abnormalities were detected in 87 cases with an overall detection rate of 22.5％(87/386),including chromosomal numerical abnormalities accounted for 82.8％(72/87)and copy number variations(CNVs)accounted for 17.2％(15/87).The detection rates of chromosomal abnormal-ities and numerical abnormalities increased with NT thickness(P＜0.05),while no statistically significant difference of CNV abnormali-ty rates was found(P=0.41).The detection rates of chromosomal abnormalities(36.5％)and CNV abnormalities(14.1％)in the non-isolated increased NT group were significantly higher than those in the isolated increased NT group(18.6％and 1.0％,respective-ly,both P＜0.05).The detection rates of chromosomal abnormalities(34.7％)and numerical abnormalities(31.6％)in the fetuses of advanced maternal age mothers with increased NT were significantly higher than those in the non-advanced age group(18.4％and 14.2％,respectively,both P＜0.05).However,the difference of CNV abnormality rates between the two groups was not statistically sig-nificant(P=0.62).Conclusion The detection rate of fetal chromosomal abnormalities elevated with increased NT thickness.Ad-vanced maternal age and the presence of other ultrasound abnormalities were the high-risk factors for fetal chromosomal abnormalities.The risks of CNV abnormalities may not be significantly correlated with NT thickness or maternal age but associated with the presence of other ultrasound abnormalities.
