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目的:评价孕妇血清标记物(甲胎蛋白AFP、β-绒毛膜促性腺激素β-hCG和雌三醇uE3)的孕中期三联筛查在临床中的应用价值。方法:采用酶联免疫吸附法(ELISA)对1200例孕中期(14～22周)孕妇进行血清标记物AFP、β-hCG和uE3的检测,结合孕龄、孕周、体重等因素,经专门的筛查分析软件,计算唐氏综合征,18三体及神经管缺陷(NTD)的风险率。如孕妇为高风险,则进行胎儿的超声检查和染色体核型分析的产前诊断。结果:在1200例孕妇中,筛查高风险的孕妇有73例,其中唐氏综合征,18三体,NTD高风险孕妇分别为65例,5例和3例,假阳性率为6.08%(73/1200)。其中59例接受了产前诊断,占高风险孕妇的80.8%(59/73)。共检出1例唐氏综合征儿和1例无脑儿,未发现18三体,检出率为100%(2/2),未有漏诊的情况。妊娠不良结局在筛查高风险组和低风险组的比率分别为17.1%和1.32%,两组有显著性差异(P<0.01)。结论:利用孕妇血清标记物(AFP、β-hCG和uE3)的孕中期无创伤性产前筛查,结合产前诊断,对减少出生缺陷儿的出生,具有重要意义,并且高风险的筛查结果对胎儿的预后有一定的提示作用。
PURPOSE: To evaluate the value of triple-trimester trimester screening of serum markers of pregnant women (alpha-fetoprotein AFP, beta-chorionic gonadotropin beta-hCG and estriol uE3) in clinical practice. Methods: The serum levels of AFP, β-hCG and uE3 in 1,200 pregnant women of the second trimester (14-22 weeks) were detected by enzyme-linked immunosorbent assay (ELISA), and combined with gestational age, gestational age, body weight and other factors Screening analysis software to calculate the risk of Down Syndrome, Trisomy 18 and neural tube defects (NTD). If pregnant women are at high risk, prenatal diagnosis of fetal ultrasound and chromosomal karyotype analysis is performed. RESULTS: Among 1,200 pregnant women, 73 were high-risk pregnant women. Among them, 65 were pregnant women with Down’s syndrome, 18 trisomy, and NTD with high risk. The false-positive rate was 6.08% 73/1200). Of these, 59 received prenatal diagnosis, accounting for 80.8% (59/73) of the high-risk pregnancies. A total of 1 child with Down’s syndrome and 1 child without brain was detected. No trisomy 18 was detected. The detection rate was 100% (2/2). There was no missed diagnosis. The adverse pregnancy outcomes were 17.1% and 1.32% in the screening of high-risk and low-risk groups, respectively, with significant differences between the two groups (P <0.01). CONCLUSIONS: The second trimester noninvasive prenatal screening using maternal serum markers (AFP, β-hCG and uE3), combined with prenatal diagnosis, is important for reducing the birth of children with birth defects and is at high risk for screening The results of fetal prognosis have some tips.