无创DNA产前检测对胎儿染色体非整倍体的诊断价值  

Diagnostic value of non-invasive DNA prenatal testing for fetal chromosomal aneuploidy

作　　者：张玉洲 冯杏琳 刘丹 韩田田 ZHANG Yuzhou;FENG Xinglin;LIU Dan;HAN Tiantian(Kaifeng Obstetrics and Gynecology Hospital,Kaifeng Prenatal Testing Center,Henan Provincial Key(Cultivated)Laboratory of Medical Genetics,Kaifeng Prenatal Testing Key Laboratory,Kaifeng,Henan 475000,China)

机构地区：[1]开封市妇产医院开封市产前诊断中心河南省医学遗传学重点(培育)实验室开封市产前诊断重点实验室,河南开封475000

出　　处：《中华实用诊断与治疗杂志》2024年第4期407-410,共4页Journal of Chinese Practical Diagnosis and Therapy

摘　　要：目的分析高风险孕妇无创DNA产前检测(NIPT)情况,探讨NIPT对胎儿染色体非整倍体的诊断价值。方法2021年1月—2022年12月开封市妇产医院诊治高风险孕妇1716例,均行NIPT,NIPT结果异常者行羊水穿刺产前诊断。以羊水穿刺产前诊断结果为金标准,计算NIPT对胎儿染色体非整倍体的阳性预测值并观察妊娠结局。结果1716例孕妇中高龄650例(37.88%),唐氏筛查高风险154例(8.97%),唐氏筛查临界风险409例(23.83%),单项值异常93例(5.42%),要求检查224例(13.05%),双胎57例(3.32%),试管婴儿44例(2.56%),超声异常88例(5.13%)。1716例孕妇NIPT检出胎儿异常22例(1.28%),其中21-三体综合征高风险6例,18-三体综合征高风险3例,性染色体异常高风险9例,染色体微缺失微重复综合征4例。22例NIPT异常者行羊水穿刺产前诊断17例,检出胎儿异常13例(76.47%);未行羊水穿刺5例,其中性染色体异常高风险4例(新生儿正常2例,胎停育2例),21-三体综合征高风险1例(胎停育)。NIPT对胎儿染色体非整倍体的阳性预测值为75.80%。6例NIPT为21-三体综合征高风险者羊水穿刺产前诊断确诊5例,终止妊娠;1例未行羊水穿刺者胎停育。3例NIPT为18-三体综合征高风险者羊水穿刺产前诊断确诊3例,终止妊娠。9例NIPT为性染色体异常高风险者行羊水穿刺产前诊断5例,其中超雌综合征保留胎儿1例,克氏征选择终止妊娠1例,结果正常3例。4例NIPT为染色体微缺失微重复综合征者羊水穿刺产前诊断确诊致病性变异3例,终止妊娠;双胎结果正常1例,新生儿正常。结论NIPT对胎儿染色体非整倍体的产前诊断价值较高,可避免不必要的羊水穿刺,可作为产前诊断染色体非整倍体疾病的辅助方法之一。Objective To analyze the non-invasive DNA prenatal testing(NIPT)in high-risk pregnant women,and to explore its diagnostic value for fetal chromosomal aneuploidy.Methods Totally 1716 high-risk pregnant women underwent NIPT in Kaifeng Obstetrics and Gynecology Hospital from January 2021 to December 2022,and those with abnormal NIPT results underwent amniocentesis for prenatal diagnosis.Taking the prenatal diagnosis of amniocentesis as gold standard,the positive predictive value of NIPT for fetal chromosome aneuploidy was calculated,and the pregnancy outcome was observed.Results Among these 1716 pregnant women,there were 650 cases(37.88%)of advanced age,154 cases(8.97%)of high risk of Down's screening,409 cases(23.83%)of critical risk of Down's screening,93 cases(5.42%)of abnormal single value,224 cases(13.05%)who asked for examination,57 cases(3.32%)of twins,44 cases(2.56%)who received in vitro fertilization,and 88 cases(5.13%)of abnormal ultrasound results.NIPT detected fetal abnormalities in 22 cases(1.28%),including 6 cases of high risk of trisomy 21,3 cases of high risk of trisomy 18,9 cases of high risk of abnormal sex chromosome,and 4 cases of chromosome microdeletion microduplication syndrome.Among 22 cases of abnormal NIPT,17 cases underwent amniocentesis for prenatal diagnosis,confirming 13 cases(76.47%)of fetal abnormalities,and the other 5 cases received no amniocentesis including 4 cases of high risk of abnormal sex chromosome(2 cases of normal newborns,2 cases of fetal arrest)and 1 case of high risk of trisomy 21(fetal arrest).The positive predictive value of NIPT for fetal chromosome aneuploidy was 75.80%.In 6 cases of high risk of trisomy 21 by NIPT,5 were diagnosed by amniocentesis and were terminated pregnancy,1 case was aborted without amniocentesis.In 3 cases of high risk of trisomy 18 by NIPT,all were confirmed by amniocentesis and were terminated pregnancy.In 9 cases of high risk of abnormal sex chromosome,5 cases were diagnosed by amniocentesis including 1 case of super-female syndrome with fe

关 键 词：染色体非整倍体 胎儿 无创DNA产前检测 出生缺陷 羊水穿刺 产前诊断 

分 类 号：R714.5[医药卫生—妇产科学] R440[医药卫生—临床医学]