武汉地区2613例产前筛查高风险孕妇的产前诊断

Prenatal diagnosis of 2613 dases of pregnant women with prenatal screening in high-risk

目的评价羊水细胞染色体分析和产前无创基因检测对诊断胎儿染色体异常的临床应用价值。方法对43 284例孕14-20+6周的孕妇采用化学发光法进行血清AFP、Free-βHCG和uE3浓度的检测,结合孕周、体重、年龄等因素,通过风险评估软件进行风险评估。将筛查结果与B超、羊水染色体分析、新生儿检查结果对照。结果 43 284例孕妇中产前筛查高风险2613例。其中唐氏综合征高风险2178例,筛查阳性率为5.03%(2178/43 284),经产前无创基因检测和羊水染色体核型分析确诊19例唐氏综合征患儿;18-三体高风险者195例筛查阳性率为0.45%(195/43 284),经产前无创基因检测和羊水染色体分析确诊4例;神经管缺陷高危者240例,筛查阳性率为0.55%(240/43 284),经超声检查确诊为神经管缺陷胎儿56例。结论产前筛查和产前诊断可减少缺陷儿的出生,具有明显的经济效益和社会效益,是落实优生优育政策非常有效的技术手段。

Objective ： Evaluation of chromosome analysis and noninvasive prenatal genetic testing for amniotic fluid cells has clinical value in the diagnosis of fetal chromosomal abnormalities. Methods ： Combined test results of serum AFP, Free - 13HCG and uE3 concen-tration for 43 284 maternal of pregnant 14-20^ ＋6 weeks in chemiluminescence, with gestational age, weight, age and other factors, the paper conducted a risk assessment with risk assessment software, and compared the screening results to B - chromosome, analysis of am- niotic fluid, neonatal screening findings. Results： 2613 cases of pregnant women with prenatal screening in high -risk were screened out from all these 43 284 cases. 2178 cases of pregnant women with Down syndrome in high - risk were screened out, and the screening posi-tive rate was 5.03% （2178/43 284）. The non - invasive prenatal genetic testing and amniotic fluid karyotype analysis further eonfirmed 19 cases of children with Down syndrome. 195 trisomy - 18 syndrome cases of high risk were screened out, and the positive rate was 0. 45% （195/43 284）. 4 cases were confirmed by the non -invasive prenatal genetic testing and chromosome analysis of the amniotic fluid. 240 cases of neural tube defects high risk were screened out, the positive rate was 0. 55% （240/43 284）. 56 cases was diagnosed as neural tube defect foetus. Conclusion： Prenatal screening and prenatal diagnosis can reduce birth of children with defects, and have obvious economic and social benefits. They are very effective technical means which can better implement eugenics policy.