柳州地区21047例无创产前检测结果回顾性研究

Retrospective study of 21047 non-invasive prenatal testing results in Liuzhou area

目的探讨孕妇外周血胎儿游离DNA无创产前检测(non-invasiveprenataltesting,NIPT)在柳州地区胎儿染色体非整倍体产前筛查的应用价值。方法对2016年8月-2019年3月柳州地区21047例孕妇外周血样本行无创产前检测,对筛查高风险的孕妇行有创产前诊断,并进行妊娠结局随访。结果NIPT检测的常见原因依次是高龄妊娠43.3%(9106/21047)、血清学筛查临界风险28.6%(6019/21047)、自愿要求14.3%(3000/21047)。筛查高风险212例(1.0%),其中21-三体高风险、18-三体高风险及13-三体高风险分别为68例、26例、19例,性染色体异常95例,其他常染色体异常3例。NIPT对21-三体、18-三体、13-三体、性染色体异常的阳性预测值分别为87.9%(58/66)、56.0%(14/25)、13.3%(2/15)、45.3%(34/75)。结论NIPT对21-三体、18-三体、13-三体、性染色体异常阳性检出率高,对21-三体的筛查阳性预测值较高,适用于临床筛查应用,可显著减少侵入性产前诊断操作。

Objective To analyze the development of non-invasive prenatal testing(NIPT)of fetal free DNA in peripheral blood of pregnant women in Liuzhou,Guangxi,and to explore its application value in prenatal screening of fetal chromosomal aneuploidy.Methods From August 2016 to March 2019,21047 peripheral blood samples of pregnant women in Liuzhou area were subjected to non-invasive prenatal testing,and high-risk pregnant women were screened for invasive prenatal diagnosis,and pregnancy outcomes were followed up.Results Among 21047 pregnant women who were tested for NIPT,Advanced age pregnancy 43.27%(9106/21047),Critical risk of serological screening 28.6%(6019/21047),Voluntary demand 14.3%(3000/21047)were the top three according to clinical indicators.68 cases of trisomy 21,26 cases of trisomy 18,17 cases of trisomy 13,95 cases of sex chromosome abnormality and 3 cases of other autosomal abnormality were detected,with a positive rate of 1.0%.Among them,106 pregnant women voluntarily accepted amniotic fluid prenatal diagnosis.NIPT positive predictive values of 21 trisomy,18 trisomy,13 trisomy,sex chromosome abnormality were 87.9%(58/66),56.0%(14/25),13.3%(2/15),45.3%(34/75),respectively.Conclusion NIPT has a high positive detection rate for trisomy 21,trisomy 18,trisomy 13 and sex chromosome abnormalities,and a high positive predictive value for trisomy 21 screening.NIPT is suitable for clinical screening applications,and can significantly reduce invasive prenatal diagnosis operations.