5687例高通量基因测序产前筛查指征及结果分析

Indications and result analysis of 5 687 cases taking high throughput gene sequencing prenatal screening

目的探讨孕期开展高通量基因测序产前筛查技术的临床应用价值。方法回顾性分析在甘肃省妇幼保健院就诊的自愿接受高通量基因测序产前筛查单胎妊娠孕妇5 687例,采用高通量测序平台对孕妇外周血游离胎儿DNA进行测序分析,对测序结果进行生物信息分析,提示高风险及性染色体异常者,进一步行羊膜腔穿刺进行胎儿染色体核型分析。结果 5 687例孕妇中游离胎儿DNA高通量基因测序技术检出37例21-三体高风险,5例18-三体高风险,2例13-三体高风险,性染色体异常30例。羊水染色体核型分析证实其中30例胎儿21-三体,3例18-三体,性染色体异常12例,高通量基因测序技术对于21-三体阳性预测值可达97%。结论高龄孕妇是胎儿染色体异常的高危人群。高通量基因测序技术是胎儿21-三体的有效产前筛查方法,它具有无创、准确的特点,且筛查结果不受孕周限制,具有较高的临床应用价值。

Objective To explore the clinical value of application of high throughput gene sequencing prenatal screening technique during pregnancy. Methods Altogether 5 687 pregnant women with singleton pregnancy visiting Gansu Maternal and Child Health Care Hospital and voluntarily receiving high throughput gene sequencing for prenatal screening were retrospectively analyzed. Free fetal DNA in maternal peripheral blood was sequenced using high throughput sequencing platform. Bioinformatics analysis was performed on sequencing results.Fetal chromosomal karyotype analysis was perfromed through amniocentesis in cases which were indicated to have high risks and sex chromosomal abnormalities. Results In free fetal DNA from 5 687 pregnant women,high throughput gene sequencing technology detected that 37 cases had high risk of 21-trisomy,5 cases had high risk of 18-trisomy,2 cases had high risk of 13-trisomy,and 30 cases had sex chromosome abnormality. Among them 30 cases of 21-trisomy,3 cases of 18-trisomy,and 12 cases of sex chromosome abnormalities were confirmed by amniotic fluid chromosome karyotype analysis. Positive predictive value of high throughput gene sequencing technology for 21-trisomy was as high as 97%. Conclusion Elderly pregnant women are at high risk of fetal chromosomal abnormalities. High throughput gene sequencing is an effective prenatal screening method for fetal 21-trisomy. It has the features of noninvasion and high accuracy,and its screening results are not restricted by gestational age. Therefore,it has high clinical application value.