扩展性NIPT胎儿染色体微缺失/微重复综合征的应用研究  

Applied study of NIPT extended screening for fetal chromosome microdeletion/microduplication syndrome

作　　者：谢晓媛[1] 李阔韬 吴芳[1] 谭桂兰[1] 张钰[1] 刘霞[1] XIE Xiaoyuan;LI Kuotao;WU Fang;TAN Guilan;ZHANG Yu;LIU Xia(Tianjin Women’s&Children’s Health Center,Tianjin 300070,China)

机构地区：[1]天津市妇女儿童保健中心,天津300070

出　　处：《中国优生与遗传杂志》2024年第3期577-581,共5页Chinese Journal of Birth Health & Heredity

基　　金：天津市卫生健康委员会科技项目(MS20018);天津市医学重点学科(专科)建设项目资助(TJYXZDXK-075C)。

摘　　要：目的 探讨无创产前筛查(NIPT)应用于筛查胎儿染色体微缺失/微重复综合征的检测效率及临床可行性。方法 对2020年1月至2021年6月在天津市妇女儿童保健中心妇女保健科门诊进行孕期检查的2962例孕妇进行回顾性分析,在知情同意的原则下进行NIPT检测量达25M,对于筛查胎儿染色体微缺失/微重复综合征高风险孕妇进行产前诊断即羊水穿刺,然后进行染色体核型分析和CNV-seq检测,低风险者随访至产后。结果 扩展性NIPT对21-三体和18-三体的阳性预测值分别为93.33%和100.00%,复合阳性预测值达95.65%,对性染色体非整倍体的阳性预测值为77.78%,而其他常染色体非整倍体的阳性预测值为0.00%,对于致病性微缺失及微重复筛查的灵敏度和特异度为100.00%和99.86%,且复合阳性预测值为50.00%。结论 在孕期可通过扩展性NIPT筛查胎儿染色体微缺失/微重复综合征,减少产前诊断给孕妇带来的心理压力和风险,有效降低缺陷儿的出生率。Objective To explore the detection efficiency and clinical feasibility of NIPT for screening for fetal chromosome microdeletion/microduplication syndrome.Methods Retrospective analysis of January 2020 to June 2021 in Tianjin Women’s&Children’s Health Center outpatient service for pregnancy examination of a total of 2962 pregnant women,under the principle of informed consent for NIPT detection of 25M,for screening fetal chromosome microdeletion microduplication syndrome high risk pregnant women prenatal diagnosis namely amniotic fluid puncture for chromosome karyotyping and CNV-seq detection,low risk to follow-up to postpartum.Results The PPV results of extended NIPT screening for 21-trisomy and 18-trisomy testing were 93.33%and 100.00%,and their composite PPV was 95.65%.For the detection of aneuploidy in other autosomes and aneuploidy in sex chromosomes,the PPV was 0.00%and 77.78%.The sensitivity and specificity for screening for pathogenic microdeletions and microduplications were 100.00%and 99.86%respectively,and the composite detection PPV was 50.00%.Conclusion During pregnancy,NIPT can screen fetal chromosome microduplication syndrome,reduce the psychological pressure and risk brought by prenatal diagnosis to pregnant women,and effectively reduce the birth of birth defects.

关 键 词：染色体微缺失/微重复 无创产前基因检测 染色体拷贝数变异 产前诊断 

分 类 号：R714.5[医药卫生—妇产科学]