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目的了解北京市西城区产前筛查技术服务机构21-三体综合征检出率、假阴性率、羊水穿刺异常率等,评价西城区唐氏筛查技术水平,为产前筛查管理工作提供依据。方法通过北京市西城区各产前筛查技术服务机构上报的《北京市产前筛查报表》,统计2008年10月1日-2009年9月30日唐氏筛查总人数、唐氏筛查高危人数,并通过各产前筛查机构对唐氏筛查对象的随访,分析羊水穿刺和妊娠结局的情况,了解实验室筛查技术水平。结果①西城区2008年10月1日-2009年9月30日唐氏筛查孕妇总人数13337例,唐氏筛查高危人数为773例,筛查阳性率为5.79%。②773例唐氏筛查高危孕妇中,463例进一步行羊水穿刺检查,羊水穿刺率60%。③463例羊水穿刺的孕妇中,28例被诊断出染色体异常,羊水穿刺异常率为6.04%。④28例羊水染色体异常患者中,7例确诊为21-三体综合征患儿,通过对唐氏筛查低危对象妊娠结局的随访,发现3例唐氏筛查阴性的21-三体患儿,21-三体的检出率为70%;假阴性率为1/4445。结论①北京西城区产前筛查医院唐氏筛查技术水平较高,各项指标均达到中华人民共和国卫生部最新颁布的《产前筛查与诊断技术卫生行业标准》。②唐氏筛查高危孕产妇,进一步行羊水穿刺染色体检查的比率有待提高,宣教工作有待进一步加强。
Objective To understand the detection rate of 21-trisomy, the false-negative rate and the abnormal rate of amniocentesis in prenatal screening technique service providers in Xicheng District, Beijing to evaluate the Down’s screening technology in Xicheng District for prenatal screening management Provide evidence. Methods The “Prenatal Screening Report of Beijing” reported by prenatal screening technical service agencies in Xicheng District of Beijing was used to calculate the total number of Down’s screening, Down’s screen from October 1, 2008 to September 30, 2009 Check the number of high-risk, and by the prenatal screening institutions Down’s screening of follow-up, analysis of amniocentesis and pregnancy outcomes, understand the level of laboratory screening techniques. Results ① The total number of pregnant women in Down’s screening from October 1, 2008 to September 30, 2009 in Xicheng District was 13,337, the number of high-risk patients in Down’s disease was 773, and the positive rate of screening was 5.79%. ② Among the 773 high-risk pregnant women who underwent Down’s screening, 463 cases were further examined by amniocentesis, amniocentesis rate was 60%. ③ Among the 463 pregnant women who received amniocentesis, 28 cases were diagnosed as chromosomal abnormalities, and the abnormal rate of amniocentesis was 6.04%. ④ Among the 28 cases of amniotic fluid abnormalities, 7 cases were diagnosed as trisomy 21. According to the follow-up of pregnancy outcomes of Down’s screening of low-risk subjects, 3 cases of Down’s trisomy 21-trisomy , 21-trisomy 70% detection rate; false negative rate of 1/4445. Conclusion ① Down’s screening technology in prenatal screening hospital in Xicheng District of Beijing was higher, and all indicators reached the “Health Industry Standard of Prenatal Screening and Diagnosis Technology” promulgated by the Ministry of Health of People’s Republic of China. Down’s screening of high-risk pregnant women, further check the amniocentesis rate needs to be improved, missionary work needs to be further strengthened.