探讨无创产前基因检测技术在筛查胎儿染色体非整倍体中的作用。

选择需做产前诊断的74名孕妇，采用高通量基因测序技术检测母体血浆胎儿游离DNA，分析胎儿染色体拷贝数。依据患者产前诊断的临床指征分为4个组(高龄妊娠组、母体血清筛查高危组、B超胎儿异常组及生育过21-三体患儿组)，计算每组高危患者的比率。对无创产前基因检测显示胎儿染色体非整倍体高危的11例患者，行羊膜腔穿刺进行胎儿染色体核型分析。

在各组中显示胎儿染色体非整倍体高危的比率是：高龄妊娠组10.50%(4/38)，母体血清高危组17.40%(4/23)，B超异常组30.00%，生育过21三体患儿组0.00%(0/3)，总高危率14.90%(11/74)。在11例无创产前基因检测显示胎儿染色体非整倍体高危患者中，9例的无创产前筛查结果与胎儿染色体核型一致，一致率81.80%。2例患者为假阳性。

无创产前基因检测技术是一种筛查胎儿染色体非整倍体的有效方法，其在胎儿染色体异常疾病的产前检测中具有广泛的应用前景。

To explore the noninavasive prenatal genetic testing technology in the role of screening for chromosome aneuploidy.

Massively parallel sequencing was applied to analyze fetal chromosome sequence copy numbers in seventy-four pregnant women with clinical indications for prenatal diagnosis.According to the different clinical indications, four groups were divided.The rate of high risk of aneuploidy in each group was counted.High risk of aneuploidy was showed in eleven cases; fetal karyotyping was also carried out on amniocentesis samples.

The rate of high risk of fetal chromosome aneuploidy was 10.5%(4/38) in advanced maternal age group, 17.4%(4/23) in the increasing-risk maternal triple-marker screening test group, 30.0% (3/10) in the abnormal ultrasound finding group, 0.0% (0/1) for family history of chromosomal abnormality.The total rate of high risk of aneuploidy in all samples was 14.9% (11/74). In eleven high risk cases of noninvasive prenatal testing, the results of noninvasive prenatal testing of nine cases were accordant with fetal karyotyping, but two cases were false positive.

Noninvasive prenatal testing is an effective method for screening fetal aneuploidy.It has a broad clinical application prospect.