无创产前基因检测在胎儿染色体非整倍体产前筛查中的应用价值

Application value of noninvasive prenatal gene detection in prenatal screening of fetal chromosomal aneuploidy

目的探讨无创产前基因检测在胎儿染色体非整倍体产前筛查中的应用价值。方法选取2016年2月-2017年2月在该院产科进行产前检查的865例孕妇作为研究对象,采集母体外周血,利用无创产前基因检测技术对胎儿染色体非整倍性疾病的患病风险进行筛查,检测结果为高风险者,做羊水穿刺进行染色体核型分析,分析无创产前基因检测对胎儿非整倍体疾病的诊断准确率。结果无创产前基因检测出10例(1.16%)为高风险,包括21-三体高风险6例,18-三体高风险3例,13-三体高风险1例。染色体核型分析显示,无创产前基因检测结果均与染色体核型分析结果相符,低风险孕妇随访显示新生儿未见染色体非整倍体异常。无创产前基因检测对21-三体综合征、18-三体综合征、13-三体综合征的诊断敏感性为100.00%,准确性为100.00%。结论无创产前基因检测对于胎儿染色体非整倍体疾病的诊断具有较高的敏感性、准确性,且具有无创优势,对于减少胎儿出生缺陷具有重大意义,是一种安全、有效的产前筛查手段。

Objective To explore the application value of noninvasive prenatal gene detection in prenatal screening of fetal chromosomal aneuploidy.Methods A total of 865 pregnant women who received prenatal examination in Department of Obstetrics of the hospital from February 2016 to February 2017 were selected as the research subjects.Maternal peripheral blood samples were collected to screen the risk of fetal chromosomal aneuploidy by noninvasive prenatal gene detection.Karyotyping after amniocentesis was performed among the pregnant women with high-risk detection results,and the diagnostic accuracy of noninvasive prenatal gene detection for fetal aneuploidy was analyzed.Results The results of noninvasive prenatal gene detection showed that 10 cases （1.16%） were high risk,including 6 cases of high risk trisomy 21 syndrome,3 cases of high risk trisomy 18 syndrome,and 1 case of high risk trisomy 13 syndrome.Chromosomal karyotyping showed that the results of noninvasive prenatal gene detection were consistent with the results of chromosomal karyotyping,and the follow-up of low-risk pregnant women showed that there was no chromosomal aneuploidy in neonates.The diagnostic sensitivity and accuracy of noninvasive prenatal gene detection for trisomy 21 syndrome,trisomy 18 syndrome,and trisomy 13 syndrome were 100.00% and 100.00%,respectively.Conclusion Noninvasive prenatal genetic detection has high sensitivity and accuracy in the diagnosis of fetal chromosomal aneuploidy,and it has the advantage of non-trauma,which is of great significance for reducing fetal birth defects.It is a safe and effective prenatal screening means.