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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 To evaluate the clinical value of amniotic fluid cell chromosome analysis and prenatal noninvasive gene testing in the diagnosis of fetal chromosomal abnormalities. Methods The serum levels of AFP, Free-βHCG and uE3 in 43 284 pregnant women with gestational age 14-20 + 6 weeks were measured by the method of chemiluminescence. Risk assessment software was used to assess the risk of pregnant women with gestational age, weight, age and other factors. The screening results and B ultrasound, amniotic fluid chromosome analysis, neonatal examination results. Results Among 43 284 pregnant women, 2613 were at high risk of prenatal screening. Among them, 2178 patients with Down’s syndrome had high risk, the positive rate of screening was 5.03% (2178/43 284), 19 children with Down’s syndrome were confirmed by prenatal noninvasive gene test and amniotic fluid karyotype analysis; 18- The positive rate of 195 cases of risk screening was 0.45% (195/43 284), 4 cases were diagnosed by prenatal noninvasive gene test and amniotic fluid chromosome analysis; 240 cases were high risk of neural tube defects, the positive rate of screening was 0.55% (240 / 43 284), 56 cases of fetal neural tube defects confirmed by ultrasonography. Conclusion Prenatal screening and prenatal diagnosis can reduce the birth of defective children, with obvious economic and social benefits. It is a very effective technical means to implement the prenatal and postnatal care policy.