论文部分内容阅读
目的通过对31 204例于中孕期进行唐氏征血清学筛查的数据进行回顾性研究,观察和分析唐氏征筛查在产前应用中的价值。方法选取进行唐氏征血清学筛查的妊娠中期(15~20~(+6)w)孕妇31 204例,对其筛查结果,染色体核型等进行观察和数据的相关分析,并追踪随访妊娠结局。结果筛查出高危孕妇1733例,筛查阳性率为5.55%;筛查阳性率随年龄增长而增长;1733例高危孕妇中,共609例进行产前穿刺诊断,其中胎儿细胞培养染色体核型结果异常者33例,异常检出率为5.42%;高风险妊娠确诊了16例三体,其中21三体11例,18三体5例,低风险妊娠中发现8例DS。结论唐氏征筛查作为种无创性的产前筛查方法是预测唐氏综合征的有效方法,且可以提示除21、18三体综合征以外的其他染色体异常。
Objective To retrospectively study the data of 31 204 cases of Down’s syndrome screening during the second trimester, and to observe and analyze the value of Down’s syndrome screening in prenatal application. Methods Totally 31 204 pregnant women (15 ~ 20 ~ (+6) w) pregnant women who were screened by Down’s syndrome were enrolled in this study. Their screening results, chromosome karyotypes and other data were analyzed and followed up Pregnancy outcome. Results A total of 1733 high-risk pregnant women were screened out and the screening positive rate was 5.55%. The positive rate of screening increased with age. Among 1733 high-risk pregnant women, 609 were diagnosed prenatally. Among them, fetal karyotype results 33 cases were abnormal and the rate of anomaly was 5.42%. Twenty-six cases of trisomy were diagnosed in high-risk pregnancy, of which 11 cases were trisomy 21 and 5 cases were trisomy 18, and 8 cases were found in low-risk pregnancy. Conclusion Down Syndrome screening as a kind of noninvasive prenatal screening method is an effective method to predict Down Syndrome, and can prompt other than chromosome 21,18 trisomy syndrome other chromosomal abnormalities.