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目的探讨孕中期血清三标记物用于唐氏综合征筛查对胎儿染色体异常检出的实用价值。方法采用时间分辨荧光免疫技术,对2011年1月到2011年6月金华地区的11 604例孕15～20周,预产年龄<35周岁的孕妇进行血清生化标志物甲胎蛋白(AFP)、游离β绒毛膜促性腺激素(F-βHCG)及游离雌三醇(uE3)浓度检测,结合孕妇年龄、体重、孕周等因素,利用配套软件计算胎儿患唐氏综合征的风险,并对筛查出的高风险孕妇进行羊水染色体检查,所有孕妇都随访到分娩后。结果筛查的11 604例孕妇中,高风险574例,筛查阳性率为4.95%,确诊21三体5例,18三体2例,NTD 1例,确诊率1.39%。筛查阴性的孕妇中检出21三体1例,唐氏综合征的检出率为83.3%(5/6)。结论孕中期唐氏综合征产前筛查三联筛查有提高检出染色体异常胎儿的作用,对减少出生缺陷,提高人口素质有重要意义。
Objective To explore the practical value of using the three trimester serum markers in Down’s syndrome screening to detect fetal chromosomal abnormalities. Methods A total of 11 604 pregnancies with gestational age of 15-20 weeks in the Jinhua area from January 2011 to June 2011 were enrolled in this study. Serum biochemical markers such as AFP, Free β-chorionic gonadotropin (F-βHCG) and free estriol (uE3) were detected. The risk of fetal Down’s Syndrome was calculated by using softwares, including age, weight, gestational age and other factors. Detected high-risk pregnant women for amniotic fluid chromosome examination, all pregnant women were followed up until after delivery. Results Among the 11 604 pregnant women screened, 574 were at high risk. The positive rate of screening was 4.95%. Five cases of trisomy 21, two of 18 trisomy 18 and one case of NTD were diagnosed. The diagnosis rate was 1.39%. One negative 21 trisomy was detected in negative pregnant women, and the detection rate of Down Syndrome was 83.3% (5/6). Conclusion Trimester screening of Down’s syndrome prenatal screening in the second trimester may improve the detection of fetuses with chromosomal abnormalities, which is of great importance to reduce birth defects and improve population quality.