母血游离DNA检测对胎儿染色体非整倍体的诊断价值

The diagnostic value of free DNA from maternal blood detection for fetal chromosome aneuploidy

目的探讨产前外周血游离胎儿DNA检测对胎儿染色体非整倍体的诊断价值。方法选取2018年在我院产前健康检查中接受外周血游离胎儿DNA检测的孕妇983例,根据唐氏综合征血清学筛查结果、孕妇年龄及其他因素分为3组,其中唐氏综合征高危组468例,高龄组312例,其他因素组203例,3组孕妇均采集外周血进行游离胎儿DNA检测,与正常人基因组进行对比分析,检出非整倍体高危者建议行羊膜腔穿刺,取羊水进行染色体核型分析,检验结果为阴性者则对出生胎儿情况进行电话随访。结果983例孕妇均顺利完成游离胎儿DNA检测,结果异常者17例,总异常率为1.73%,其中唐筛高危组检出3例21-三体阳性者,2例18-三体阳性者,2例13-三体阳性者,1例性染色体异常阳性者,异常率为1.71%;高龄组检出21-三体阳性者2例,18-三体阳性者1例,性染色体异常阳性者2例,异常率为1.60%;其他因素组检出21-三体阳性1例,18-三体阳性1例,性染色体异常1例,异常率为1.48%。母血游离胎儿DNA检测染色体非整倍体的灵敏度为100.00%(15/15),特异度为99.79%(966/968)。此外,母血游离胎儿DNA检测未对孕妇及胎儿产生不良反应。结论母体血浆游离胎儿DNA检测能够有效筛查胎儿染色体异常,且准确度及安全性高,对提高优生率有较高的临床价值。

Objective:To investigate the diagnostic value of free DNA from maternal blood detection for fetal chromosome aneuploidy.Methods:In 2018,a total of 983 pregnant women who received detection of free fetal DNA in peripheral blood in prenatal care conducted in our hospital were selected.According to the results of serological screening for down syndrome,the age of pregnant women and other factors,they were divided into 3 groups,among which,468 were in the high-risk group for down syndrome,312 were in the advanced maternal age group,and 203 were in the other factors group.All the pregnant women in the three groups were collected peripheral blood for free fetal DNA detection,following compared and analysed with normal human genome.Amniocentesis was suggested for those had high risk of abnormal chromosome.Amniotic fluid was taken for karyotype analysis.Results:All the 983 pregnant women successfully completed the free fetal DNA detection,17 of them were abnormal,the total rate of abnormal was 1.73%,including 3 cases of 21-trisomy positive,2 cases of 18-trisomy positive,2 cases of 13-trisomy positive,and 1 case of sex chromosome abnormality in the high-risk group for down syndrome,the rate of abnormal was 1.71%.In the advanced maternal age group,there were 2 cases of 21-trisomy positive,1 case of 18-trisomy positive,and 2 cases of sex chromosome abnormality,with an abnormal rate of 1.60%.In other factors group,there was 1 case of 21-trisomy positive,1 case of 18-trisomy positive and 1 case of sex chromosome abnormality,with an abnormal rate of 1.48%.The sensitivity and specificity of free DNA from maternal blood detection for fetal chromosome aneuploidy were 100.00%(15/15)and 99.79%(966/968),respectively.In addition,DNA from maternal blood detection for fetal chromosome aneuploidy did not exert adverse effects on pregnant women and fetuses.Conclusion:DNA from maternal blood detection for fetal chromosome aneuploidy can effectively screen fetal chromosome abnormalities with high accuracy and safety,and has high clinical value in improving the Health birth rate.