728例高龄孕妇产前诊断结果分析  

Analysis of prenatal diagnosis of 728 advanced maternal age women

作　　者：靳秋杰 翟文 蔡博 王晓斌 蔡娜 吴秋华 强荣 Jin Qiujie;Zhai Wen;Cai Bo;Wang Xiaobin;Cai Na;Wu Qiuhua;Qiang Rong(Center of Medical Genetics,Northwest Women’s and Children’s Hospital,Xi’an 710061,China)

机构地区：[1]西北妇女儿童医院医学遗传中心,西安710061

出　　处：《国际遗传学杂志》2021年第5期314-320,共7页International Journal of Genetics

摘　　要：目的探讨不同年龄段、不同临床指征的高龄孕妇胎儿染色体异常种类及异常率,为高龄孕妇胎儿染色体检测方法的选择及遗传咨询提供理论帮助。方法选取在西北妇女儿童医院医学遗传中心行羊膜腔穿刺术,并同时接受染色体核型分析和比较基因组杂交微阵列(array-based comparative genomic hybridization,aCGH)检测的728例高龄孕妇。将孕妇按年龄和临床指征分组,分析每组胎儿携带染色体异常的种类及各类染色体异常所占的比例。结果本研究共包含728例高龄孕妇,其中染色体非整倍体异常携带病例62例(62/728,8.5%),染色体拷贝数变异(copy number variants,CNVs)携带病例81例(81/728,11.1%)。研究中额外增加728例非高龄孕妇作为对照组,按年龄分组分析不同年龄孕妇胎儿染色体异常携带率。年龄<35组、年龄35~39岁组、年龄≥40岁组,3组中胎儿染色体非整倍体异常率分别为6.5%、7.5%、10.8%,异常率随着孕妇年龄增加而明显升高,但差异无统计学意义(P=0.150),CNVs的检出率与孕妇年龄之间并无统计学差异。不同临床指征的高龄孕妇胎儿染色体异常率差异较大(P<0.001),高龄合并NIPT结果异常组检出率最高,为44.2%,其次为高龄合并超声异常组,为23.8%,高龄合并不良孕史组异常比例为14.6%,单纯高龄组染色体异常发生率最低,为10.6%。此外,高龄合并不良妊娠史的孕妇检出染色体异常均为CNVs。结论胎儿染色体非整倍体异常发生率随着孕妇年龄增加而升高,CNVs的发生率与孕妇年龄无关,高龄合并其他临床指征的孕妇染色体异常率显著高于单纯高龄的孕妇。此外,本研究结果表明aCGH技术用于高龄孕妇可大大提高胎儿染色体异常的检出率。Objective To investigate the types and rates of fetal chromosomal abnormalities in advanced maternal age women of different ages and different clinical indications,and to provide theoretical help for the selection of fetal chromosomal detection methods and genetic counseling in advanced maternal age women.Methods A total of 728 advanced maternal age women were selected from the Medical Genetics Center of Northwest Women and Children’s Hospital,who underwent karyotype analysis and array-based comparative genomic hybridization(aCGH)detection.Pregnant women were divided into groups according to age and clinical indications,and the types and proportions of chromosome abnormalities in each group were analyzed.Results A total of 728 elderly pregnant women were included in this study,among which 62 cases(62/728,8.5%)carried abnormal chromosomal aneuploidy and 81 cases(81/728,11.1%)carried chromosomal copy number variation(CNVs).We added 728 non-elderly pregnant women as control.Then pregnant women were grouped by age,and the chromosome abnormality rate of different age pregnant women was analyzed.The fetal abnormal chromosome aneuploidy rate of aged<35 age group,age 35 to 39 years old group,age≥40 age group,are 6.5%,7.5%and 10.8%respectively,which increased with the age of pregnant women,but there was no statistically significant(P=0.150).However,the detection rate of CNVs did not change regularly among different age groups.The rate of fetal chromosomal abnormality was significantly different among theadvanced maternal age women with different clinical indications(P<0.001).The detection rate of fetal chromosomal abnormality was the highest in the advanced maternal age women with abnormal NIPT results(44.2%),followed by the advanced maternal age women with abnormal ultrasound(23.8%),the abnormal rate in the advanced maternal age women with adverse pregnancy history was 14.6%,and the incidence of fetal chromosomal abnormality was the lowest in the simple advanced maternal age women(10.6%).In addition,the chromosomal a

关 键 词：高龄孕妇 产前诊断 胎儿染色体异常 ACGH 

分 类 号：R714.5[医药卫生—妇产科学]