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目的通过前瞻性的研究方法,评价基于高通量平行测序技术的无创产前检测(MPS-NIPT)筛查胎儿唐氏综合征的临床效果。方法 2012年7月-2015年5月期间,招募来中山市博爱医院产前诊断中心产检的单胎妊娠孕妇。采集孕妇外周血,提取血浆游离DNA进行高通量平行测序分析。用基于二元假设的t检验(t值)和对数似然比(L值)判定胎儿唐氏综合征风险。高风险孕妇行产前诊断穿刺和胎儿染色体分析。所有孕妇进行随访了解妊娠结局及新生儿健康情况。结果共招募2529名进行MPS-NIPT的单胎妊娠孕妇,平均年龄32.4岁(17~48岁),平均孕周18.2周(12周~34+1周),其中70.00%孕妇存在胎儿唐氏综合征高危因素。共检出胎儿唐氏综合征高风险25例,高风险率为0.99%。经胎儿染色体分析确诊21例。随访资料显示,MPS-NIPT筛查胎儿唐氏综合征的检出率、假阳性率和阳性预测值分别为100.00%、0.18%和84.00%。结论 MPS-NIPT筛查胎儿唐氏综合征检出率高,假阳性率极低,可常规用于单胎妊娠的胎儿唐氏综合征产前筛查以降低有创的产前诊断穿刺。
Objective To evaluate the clinical efficacy of screening noninvasive prenatal testing (MPS-NIPT) based on high-throughput parallel sequencing for the screening of fetal Down’s syndrome by a prospective study. Methods From July 2012 to May 2015, single-pregnancy pregnant women were enrolled in the prenatal diagnosis center of Pok Oi Hospital of Zhongshan City. Peripheral blood was collected from pregnant women and plasma free DNA was extracted for high-throughput parallel sequencing analysis. Fetal Down’s syndrome risk was determined using a t-test (t-value) and a log-likelihood ratio (L value) based on binary assumptions. Prenatal diagnostic puncture and fetal chromosomal analysis in high-risk pregnant women. All pregnant women were followed up to understand the outcome of pregnancy and neonatal health. Results A total of 2529 singleton pregnancies with MPS-NIPT were enrolled. The mean age was 32.4 years (17-48 years) and average gestational age was 18.2 weeks (ranged from 12 weeks to 34 + 1 week). 70.00% pregnant women had fetal Down’s syndrome Sign risk factors. A total of 25 high-risk fetuses with Down’s syndrome were detected, with a high risk of 0.99%. 21 cases were confirmed by fetal chromosome analysis. Follow-up data showed that the detection rate of MPS-NIPT screening fetal Down Syndrome, false positive rate and positive predictive value were 100.00%, 0.18% and 84.00% respectively. Conclusion MPS-NIPT screening for detection of Down’s syndrome in fetuses has high detection rate and very low false-positive rate. It can be routinely used in antenatal screening of fetal Down’s syndrome in singleton pregnancy to reduce invasive prenatal diagnostic puncture.