唐氏综合征产前筛查管理及干预

Administration and intervention for prenatal screening of Down＇s syndrome

目的 探讨有效提高产前筛查率、产前诊断率的方法，降低唐氏综合征患儿的出生率。方法 泰安市妇幼保健院疾病筛查中心自2006年1月至2008年6月对10 836例孕14-20周的孕妇在知情选择情况下进行了唐氏综合征产前筛查。利用时间分辨荧光免疫法，检测样本中甲胎蛋白和游离β绒毛膜促性腺激素浓度，得出胎儿患唐氏综合征的风险率；切割值为1/350，筛查风险系数≥1/350为患病高风险。结果 共筛查14-20周孕妇10 836例，筛查率达到了13.4%，试点县、市、区为41.2%，产前诊断率达到了85.1%，确诊唐氏综合征患儿7例，发生率为0.7‰，发现染色体异常胎儿26例，其中6例伴有畸形而引产，最大限度地减少了唐氏综合征患儿和染色体异常畸形儿的出生。结论 产前筛查、产前诊断是有效降低唐氏综合征患儿出生的良好措施，综合管理可有效提高产前筛查率、诊断率。

Objective To explore an effective method to improve prenatal rate screening rate and prenatal diagnosis rate of Down＇s syndrome （DS）so as to reduce birth rate of infants with DS. Methods 10 836 pregnant women at 14-20 weeks of gestation received prenatal screening for DS in case of informed choice in Disease Screening Center of Tai＇an Municipal Maternal and Child Health Hospital over a period from January, 2006 to June, 2008. In timeresolved fluoroimmunoassay （TRFIA）, alpha fetoprotein （AFP） and free-βhCG in the blood samples of the pregnant women were detected to calculate risk probability of the fetus suffering from DS. The cuttoff value was defied as 1/350 and ≥1/350 was regarded as high risk of DS. Results Totally,10 836 pregnant women at 14-20 weeks of gestation received prenatal screening for DS and the screening rate was 13.4%. In pilot project cities, counties and districts, the screening rate reached to 41.2% and prenatal diagnosis rate of DS reached to 85.1%. 7 fetuses were diagnosed as DS and the incidence rate of DS was 0.7‰. 26 fetuses were identified to have chromosome abnormalities, of which, 6 fetuses with congenital malformations were performed on induced abortion. Which reduced birth of those fetuses with DS or chromosome abnormalities at the most extent. Conclusion Prenatal screening and prenatal diagnosis is a good messure to effectively reduce birth rate of those infants with DS and comprehensive administration can effectively improve prenatal screening rate and prenatal diagnosis rate of DS.