目的 探讨无创产前基因检测技术(NIPT-plus)在胎儿染色体异常诊断中的应用价值。方法 选取2020年3—12月在黄山市妇幼保健计划生育服务中心产前筛查门诊1 272名孕妇,采用NIPT-plus检测技术筛查胎儿染色体异常情况,对检测结果为高风险孕妇充分遗传学咨询,转诊到有资质的产诊中心行羊穿胎儿核型分析,并通过跟踪随访分析NIPT-plus和产前诊断胎儿核型情况。结果 1 272名孕妇,经NIPT-plus检测筛查出高风险报告47例,染色体异常中的21三体4例、18三体4例、性染色体非整倍体5例、微缺失微重复(CNV)30例、其他染色体异常4例。不同筛查指征的孕妇,高风险检出率差异有统计学意义(χ2=8.11,P<0.05),血清学唐筛异常组最高,高风险检出率为4.62%。47例高风险孕妇经金标准的诊断方法,即羊穿胎儿核型分析36例,产前诊断率76.60%(36/47)。21三体阳性预测值为66.67%,18三体阳性预测值25.00%,性染色体非整倍体阳性预测值50.00%,微缺失微重复阳性预测值为18.18%,其他染色体异常阳性预测值为33.33%。结论 NIPT-plus检测技术在诊断胎儿染色体异常中有较高的筛查效果,在诊断微缺失微重复综合征过程中有一定的价值。
Abstract
Objective To explore the application value of noninvasive prenatal testing(NIPT-plus) in the diagnosis of fetal chromosomal abnormalities. Methods The pregnant women who received NIPT-plus test in the prenatal screening clinic of Huangshan Maternal and Child Health and Family Planning Service Center from March to December 2020 were selected as the research subjects.The pregnant women who were at high risk of the test results were given full genetic consultation, and NIPT plus and prenatal fetal karyotype were analyzed by follow-up. Results Among the 1272 pregnant women tested by NIPT-plus, 47 cases were found to have high risk, including 4 cases of 21 trisomy, 4 cases of 18 trisomy, 5 cases of sex chromosome aneuploidy, 30 cases of microdeletion and microduplication(CNV) and 4 cases of other chromosomal abnormalities.Among pregnant women with different screening indicators, the detection rate of high risk had statistical significance(χ2=8.11, P<0.05), and the group with serological abnormality(Abnormal Tang screening) had the highest detection rate which was 4.62%.Forty-seven high-risk pregnant women underwent karyotype analysis of sheep penetration fetus in 36 cases, the diagnosis rate was 76.60%, and the positive predictive value of trisomy 21 was 66.67%.The positive predictive value of trisomy 18 was 25.00%, the positive predictive value of sex chromosome aneuploidy was 50.00%, the positive predictive value of sex chromosome aneuploidy was 18.18%, and the positive predictive value of other chromosome aneuploidy was 33.33%. Conclusion The NIPT-plus test has a high screening effect in the diagnosis of trisomy 21, trisomy 18 and abnormal number of sex chromosomes in fetuses, and has certain value in the diagnosis of microdeletion and microduplication syndrome.
关键词
孕妇 /
无创产前基因检测 /
产前诊断
Key words
Pregnancy /
Noninvasive prenatal Testing /
Prenatal diagnosis
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