无创产前检测在慎用人群胎儿染色体非整倍体中的效能分析

Efficacy of noninvasive prenatal testing in fetal chromosome aneuploidy in cautious population

目的分析无创产前检测(noninvasive prenatal testing,NIPT)在不同慎用人群胎儿染色体非整倍体筛查中的应用价值。方法回顾性分析2016年10月至2020年6月期间在天津医科大学总医院妇产科自愿接受NIPT的19590例孕妇资料,比较NIPT在不同年龄、妊娠方式和胎儿数量中对胎儿染色体非整倍体的筛查效能。孕中期血清学筛查(second trimester serum screening,STSS)高风险和临界风险孕妇选择联合NIPT筛查,同时对比分析STSS、STSS联合NIPT和直接NIPT 3种筛查技术的筛查效能。结果NIPT检测21-三体、18-三体和13-三体的阳性预测值分别为87.18%、54.84%和41.18%。NIPT在高龄(≥35岁)、体外受精-胚胎移植和双胎妊娠孕妇中的灵敏度均为100%,特异度分别为99.79%、99.82%和100%,阳性预测值分别为85.25%、50.00%和100%,其中≥35岁的阳性预测值显著高于<35岁患者(61.54%,P=0.003),其余指标均与低龄(<35岁)、自然受孕和单胎人群相似(均P>0.05)。与STSS相比,联合筛查和直接NIPT筛查具有更高的阳性预测值(1.20%、68.75%、73.74%,均P<0.001)和更低的假阳性率(27.83%、0.19%、0.17%,均P<0.001)。结论NIPT检测在高龄、STSS高风险、体外受精-胚胎移植和双胎妊娠孕妇中对胎儿染色体非整倍体筛查具有较高的灵敏度、特异度和阳性预测价值,能够缓解产前诊断的压力,降低染色体病患儿的出生率。

Objective To analyze the application value of noninvasive prenatal testing(NIPT)in screening fetal chromosome aneuploidy in cautious population.Methods The data of 19590 pregnant women who voluntarily received NIPT in the Department of Gynecology and Obstetrics,General Hospital of Tianjin Medical University from October 2016 to June 2020 were retrospectively analyzed.The patients were divided into groups according to age,type of pregnancy and number of fetuses.The screening efficiency of NIPT was compared among different groups.Meanwhile,the screening efficacy of second trimester serum screening(STSS),STSS combined with NIPT and direct NIPT screening was compared and analyzed.Results The positive predictive values of NIPT for trisomy 21,trisomy 18 and trisomy 13 were 87.18%,54.84%and 41.18%,respectively.In pregnant women with advanced age(≥35 years old),in vitro fertilization and embryo transfer(IVF-ET)and twin pregnancy,NIPT sensitivity was all 100%,specificity was 99.79%,99.82%and 100%,positive predictive value was 85.25%,50.00%and 100%,respectively.The positive predictive value of≥35 years old patients was significantly higher than that of<35 years old patients(61.54%,P=0.003),and the other indicators were similar to those of the young(<35 years old),conceived naturally and singleton group(all P>0.05).Compared with STSS,combined screening and direct NIPT screening had higher positive predictive value(1.20%,68.75%,73.74%;all P<0.001)and lower false positive rate(27.83%,0.19%,0.17%;all P<0.001).Conclusion NIPT has high sensitivity,specificity and positive predictive value for fetal chromosome aneuploidy screening in pregnant women with advanced age,STSS high risk,IVF-ET and twin pregnancy,which greatly relieves the pressure of prenatal diagnosis and reduces the birth rates of children with chromosome disease.