北京市2006年至2009年孕中期唐氏综合征筛查状况

Serum screening for Down＇ s syndrome in Beijing from 2006 to 2009

目的分析北京市2006年度至2009年度唐氏综合征（也称21-三体）母血清学筛查（简称唐筛）情况，以便评估其质量。方法运用描述性统计学方法回顾分析2006年度至2009年度出生缺陷监测资料及2008年度至2009年度北京市批准的产前筛查机构上报的相关资料。结果北京市2006年至2009年共有21-三体患儿330例，其中166例孕妇进行了唐筛试验，通过唐筛试验检出的21-三体患儿85例（唐筛检出率51．2％），其中高龄孕妇35例，适龄孕妇50例。高龄孕妇21-三体胎儿唐筛检出率为62．5％（35／56），适龄孕妇唐筛检出率为45．5％（50／110）。21-三体患儿的产前诊断率由2006年度的26．8％（11／41）上升到2009年度的47．4％（46／97）。适龄孕妇唐筛试验的产前检出率由2006年度23．1％（3／13）上升到2009年度的62．9％（22／35）。2007年度至2009年度21-三体患儿中158例进行了孕中期超声筛查，其中62例为超声筛查异常，21-三体患儿产前超声筛查异常率为39．2％。结论北京市唐氏综合征筛查工作取得了一定的成效，但应该加强质量控制；在目前筛查质量有待提高的情况下，不建议对高龄孕妇进行孕中期血清学筛查；超声在帮助诊断唐氏综合征患儿上起到很重要的作用，应高度重视产前超声筛查。

Objective To investigate the status of second trimester maternal serum screening for Down＇s syndrome from 2006 to 2009 to evaluate the screening quality in Beijing. Methods Birth defect data （birth defect register） from 2006 to 2009 and screening data reported by certificated screening hospitals from 2008 to 2009 in Beijing were retrospectively analyzed by descriptive statistic method. Results Three hundred and thirty Downt syndrome babies were delivered from 2006 to 2009 in Beijing, among which 166 mothers accepted Down＇ syndrome serum screening and 85（51.2%） were diagnosed finally according to the screening results; among the 85 mothers, 35 were ≥35 years old with the detection rate of 62. 5% （35/56）, and 50 cases were 35 with the detection rate of 45. 5% （50/110）. The prenatal diagnostic rate of Down＇s syndrome babies increased from 26. 8%（11/41） in 2006 to 47.4%（46/97） in 2009. The detection rate of Downrs syndrome with serum screening increased from 23. 1% （3/13） in 2006 to 62. 9% （22/35） in 2009. One hundred and fifty-eight 21-trisomy cases accepted mid-term ultrasound screening, among which 62 cases （39.2%） were found abnormal. Conclusions Quality control for second trimester maternal serum screening for Down＇s syndrome should be improved in Beijing. Second trimester maternal serum screening for Down＇s syndrome in elderly primipara is not suggested. More attention should be paid on prenatal ultrasound screening.