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目的通过分析嘉兴市2007年~2015年27例唐氏儿漏筛原因及其各项血清学指标mom值及风险值,利用既有的技术及信息提供高通量基因测序,有效地减少漏筛的发生。方法用Lifecycle3.0风险评估软件计算27例低风险漏筛案例的单项血清学mom值及风险值,分析其漏筛原因。风险值分布在1/270~1/1000(中间风险值)的孕妇提供高通量基因测序。结果分析发现27例漏筛案例中21三体风险值分布在1/270~1/1000(中间风险值)的有17例,占62.96%;AFP mom平均值为0.883,Freeβ-HCG mom平均值为1.841;用Lifecycle3.0风险评估软件重新计算27例低风险出生唐氏儿案例中有5例为高风险,2例校正孕周后为高风险,3例校正体重后有1例为中间风险值。结论中间风险值人群及单项血清学指标mom值异常人群可选择高通量基因测序产前诊断胎儿染色体非整倍体,Lifecycle对唐氏综合征的漏筛率低,重视孕周、体重计算的准确性,可以有效地减少漏筛的发生。
OBJECTIVE: To analyze the cause of missed screenings and the mom values and risk values of 27 serogroups of children in Jiaxing from 2007 to 2015, to provide high-throughput gene sequencing using existing technologies and information to effectively reduce the missed screen happened. Methods Lifecycle3.0 risk assessment software was used to calculate the individual serological mom values and risk values of 27 cases of low-risk missed cases, and the causes of leakage were analyzed. Pregnant women with risk values ranging from 1 in 270 to 1 in 1000 (median risk) provide high-throughput gene sequencing. Results Analysis found that in 27 cases of leakage sieve cases, trisomy 21 risk values were distributed in 1 / 270-1 / 1000 (intermediate risk value), 17 cases, accounting for 62.96%; AFP mom mean was 0.883, Freeβ-HCG mom average Was 1.841; using Lifecycle 3.0 risk assessment software to recalculate 27 cases of low-risk Down’s children in 5 cases of high risk, 2 cases of high risk after correction of gestational weeks, 3 cases of body weight after correction of a middle-risk value. Conclusion Interim risk group and single serological mom value of abnormal population can choose high-throughput gene sequencing prenatal diagnosis of fetal chromosomal aneuploidy, Lifecycle on Down syndrome low rate of missed screen, emphasis on gestational age, body weight calculated Accuracy, can effectively reduce the occurrence of leakage sieve.