2014—2021年黑龙江省2291例孕妇产前诊断指征构成变化及检测结果分析  

Analysis of the changes of indication composition and test results of prenatal diagnosis in 2291 pregnant women in Heilongjiang province from 2014 to 2021

作　　者：张琰惠 田婷婷 王超[1] 刘羽[1] 王瑞静 申会敏 王雅新 刘梅梅[1] ZHANG Yanhui;TIAN Tingting;WANG Chao;LIU Yu;WANG Ruijing;SHEN Huimin;WANG Yaxin;LIU Meimei(Center for Prenatal Diagnosis,the 2nd Affiliated Hospital of Harbin Medical University,Harbin,Heilongjiang 150081,China)

机构地区：[1]哈尔滨医科大学附属第二医院产前诊断中心,黑龙江哈尔滨150081

出　　处：《中国优生与遗传杂志》2023年第12期2438-2442,共5页Chinese Journal of Birth Health & Heredity

基　　金：黑龙江省出生缺陷发病现状调研项目(2020-8);吴阶平医学基金会临床科研专项资助基金[320.6750.18558(10)]。

摘　　要：目的本文主要探讨近8年(2014—2021年)黑龙江省地区孕妇产前诊断指征的变化以及基因拷贝数变异检测(CNV-seq)与核型分析在产前诊断中的应用价值。方法以2014年1月至2021年6月有产前诊断指征并自愿行羊水穿刺的孕妇为研究对象,回顾分析产前诊断指征、胎儿染色体核型分析以及CNV检测结果。结果2291例羊水样本,8例培养失败,异常核型总检出率17.78%(406/2283);1740例CNV结果中致病性变异检出率17.82%(310/1740),其中54例染色体核型正常同时CNV-seq检测出致病性变异。2291例产前诊断样本中,生化血清学筛查高风险占比最多(671/2291,29.29%);其次是无创产前筛查(NIPT)高风险(470/2291,20.52%)。NIPT总体阳性预测值(PPV)为47.12%,其中21-三体的PPV最高,为81.97%。CNV检测中,致病性变异检出率最高的是NIPT高风险组(212/440,48.18%)。结论近年随着新技术的推广,黑龙江省产前诊断指征发生了变化,NIPT高风险及胎儿超声异常所占比例逐年升高;染色体核型分析和CNV-seq联合应用能够提高异常产前样本的检出率。Objective This paper mainly discusses the change of pregnant women's prenatal diagnosis indications and the application value of copy number variation(CNV-seq)and karyotyping in prenatal diagnosis in Heilongjiang province in recent 8 years(2014—2021).Methods From January 2014 to June 2021,pregnancies who had indications for prenatal diagnosis and voluntarily underwent amniocentesis,were taken as the research objects,the prenatal diagnosis indications,fetal chromosome karyotype and CNV results were analyzed.Results Among 2291 amniotic fluid samples,8 failed to culture,the total detection rate of chromosome abnormities was 17.78%(406/2283).In 1740 CNV results,the detecting rate of pathogenic variation was 17.82%(310/1740),pathogenic variants was detected by CNV-seq in 54 cases with normal karyotype.Among 2291 sample of prenatal diagnosis,the proportion of high-risk cases of serological screening was the largest with 671 cases(671/2291,29.29%).The high risk of noninvasive prenatal test(NIPT)ranked second,with 470 cases(470/2291,20.52%).The total positive predictive value(PPV)of NIPT was 47.12%,and the PPV of women with high risk for trisomy 21 was the highest(81.97%).In CNV detection,the highest rate of detection of pathogenic variation in prenatal diagnosis is the high risk of NIPT(212/440,48.18%).Conclusion In recent years,the indications of prenatal diagnosis in Heilongjiang province have changed with the popularization of new technology,and the proportion of the high risk of NIPT and abnormal ultrasound findings is gradually increasing.Karyotyping combined with CNV-seq technology can improve the detecting rates of chromosome abnormities.

关 键 词：产前诊断指征构成 核型分析 CNV-seq 

分 类 号：R714.5[医药卫生—妇产科学]