中孕期唐氏综合征的筛选

Screening for Down syndrome using second-trimester combined screening

目的分析使用中孕期结合筛查模式对唐氏综合征检出率及漏诊情况,从而对我院目前的唐氏综合征筛选方案作一评估。方法2004年2月24日至2006年12月31日期间在本院产前检查的胎儿9101例,根据孕妇年龄、血清学筛选指标及超声检查结果,决定是否行羊膜腔穿刺染色体检查。对唐氏综合征的检出率及漏诊情况进行分析。结果9101例胎儿中,筛查出唐氏综合征15例,漏诊3例,唐氏综合征发病率为1.98‰,检出率83.33%。结论唐氏综合征产前筛选应结合孕妇年龄,血清学检查,超声检查,作出综合判断,决定是否行羊水穿刺。我院目前的产前唐氏综合征筛选方案临床上切实可行。

Purpose To assess Down syndrome(DS) screening program by analysing DS detective rate and misdiagnosis in our hospital.Methods A retrospective study of 9 101 pregnancies between Feb.2004 to Dec.2006 were carried out.DS screening program consisted of maternal age,second-trimester secrum triple test and evaluation of ultrasonographic markers.Results Second-trimester screening was performed in 9101 fetuses,15 DS fetuses were detected,3 DS fetuses were missed,the detective rate was 83.33%.Conclusions Second-trim...