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目的总结并探讨东莞地区唐氏征筛查现状,以便更好的提高唐氏筛查的准确率。方法采用化学发光的方法,对35 460例孕中期唐氏三联筛查孕妇的唐氏征结果进行分析,与其他地区进行比较,筛查高风险和临界风险的孕妇再进一步通过无创基因筛查或羊水穿刺等产前诊断手段进行结果的验证。结果经过数据的统计分析,共筛查出唐氏综合征高风险孕妇1596例,在通过羊水穿刺和无创基因筛查检出62例染色体异常胎儿。结论通过我们的研究,提示无创基因筛查是一项可行的准确率很高的唐氏征筛查手段,值得临床推广。
Objective To summarize and discuss the current status of Down’s syndrome screening in Dongguan in order to better improve the accuracy of Down’s screening. Methods The chemiluminescence method was used to analyze the Down Syndrome results of 35 460 pregnant women with Down’s triple triple screening in pregnant women. Compared with other regions, pregnant women who screened for high risk and critical risk were further screened by non-invasive genetic screening or Amniocentesis and other prenatal diagnostic tools to verify the results. Results After statistical analysis of the data, a total of 1596 pregnant women with Down’s syndrome at high risk were screened and 62 cases of chromosomal abnormalities were detected by amniocentesis and noninvasive genetic screening. Conclusions Our research suggests that noninvasive genetic screening is a feasible and accurate screening method for Down’s syndrome and is worthy of clinical promotion.