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  

Analysis of karyotype and copy number variation in 386 fetuses with increased nuchal translucency

作　　者：唐艳 卢守莲 宋胜楠 王珏 苗明珠 TANG Yan;LU Shoulian;SONG Shengnan;WANG Jue;MIAO Mingzhu(Department of Prenatal Diagnosis,The First Affiliated Hospital of Nanjing Medical University,Jiangsu Provincial Maternal and Child Health Care Hospital,Jiangsu Provincial People's Hospital,Nanjing 210029,Jiangsu,China)

机构地区：[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

出　　处：《临床检验杂志》2025年第2期98-101,共4页Chinese Journal of Clinical Laboratory Science

基　　金：江苏省妇幼健康重点学科(FXK202139)。

摘　　要：目的探讨颈项透明层(NT)增厚胎儿的染色体异常类型及其相关性,为产前遗传咨询提供依据。方法回顾性分析2018年1月至2022年4月因NT≥2.5mm而于南京医科大学第一附属医院接受侵入性产前诊断的386例单胎妊娠孕妇的临床资料。根据NT厚度(2.5~3.4、3.5~3.9、4.0~4.9、5.0~5.9、≥6.0mm)、胎儿超声异常情况(单纯NT增厚、非单纯NT增厚)及孕妇年龄(高龄≥35岁、非高龄<35岁)进行分组,采用卡方检验比较不同组间胎儿染色体异常发生率的差异。结果386例NT增厚胎儿中,染色体异常检出87例,总检出率为22.5%(87/386),其中染色体数目异常占82.8%(72/87),拷贝数变异(CNV)异常占17.2%(15/87)。随NT厚度增加,胎儿染色体异常率及染色体数目异常率呈上升趋势(P<0.05),而CNV异常率差异无统计学意义(P=0.41)。非单纯NT增厚组胎儿染色体异常率(36.5%)及CNV异常率(14.1%)均明显高于单纯NT增厚组(18.6%和1.0%,P均<0.05)。高龄孕妇NT增厚胎儿染色体异常率(34.7%)及染色体数目异常率(31.6%)均显著高于非高龄孕妇(18.4%和14.2%,P均<0.05),但两组CNV异常率差异无统计学意义(P=0.62)。结论NT增厚胎儿染色体异常检出率随NT厚度增加而上升,高龄及合并其他超声异常是胎儿染色体异常的高危因素。CNV异常风险可能与NT厚度及孕妇年龄无明显相关性,但与是否合并其他超声异常相关。Objective To investigate the karyotypes and the correlation of chromosomal abnormalities in the fetuses with increased nuchal 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 abnormalities and numerical abnormalities increased with NT thickness(P<0.05),while no statistically significant difference of CNV abnormality 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%,respectively,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 significant(P=0.62).Conclusion The detection rate of fetal chromosomal abnormalities elevated with increased NT thickness.Advanced maternal age and the presence o

关 键 词：颈项透明层增厚 产前诊断 染色体异常 拷贝数变异测序 

分 类 号：R446[医药卫生—诊断学]