唐氏综合征发生率及其受产前筛查干预的研究

目的 探讨住院分娩活产婴儿中唐氏综合征的发生率,以及产前筛查对降低唐氏综合征发生率的作用.方法 计算唐氏综合征的发生率,分析产前筛查率与唐氏综合征发生率的相关性,评估产前筛查对降低唐氏综合征发生率的作用.结果 2000年至2002年门诊的24.3%孕早、中期孕妇参与产前筛查,筛查出并经产前诊断证实1例唐氏综合征胎儿,同期分娩活产婴儿7063名中有唐氏综合征患儿7例,合计发生率为1/883;2003年至2004年产前筛查率上升至81.6%,在5273名活产婴儿中有唐氏综合征3例,发生率降至1/1758.结论 本组唐氏综合征的近似发生率可能高于1/785,产前筛查是能够在孕早、中期筛查出高风险患者的有效方法,提高产前筛查率可降低唐氏综合征发生率.

A Study on the Incidence of Down's Syndrome and the Interference by Prenatal Screening

Objective To investigate the incidence of Down's syndrome in live birth infants delivered in the hospital, and the effect of prenatal screening in reducing the incidence of Down's syndrome. Methods Calculating the incidence of Down's syndrome, and the effect of prenatal screening in reducing the incidence of Down's syndrome was evaluated by a correlation analysis between the prenatal screen rate and the incidence of Down's syndrome. Results 24. 3% outpatient women at first and second trimester of pregnancy were accepted for the prenatal screening during 2000 to 2002, one case of Down's syndrome fetus was found and prenatally diagnosed. 7 cases of Down's syndrome among 7063 live birth infants were delivered in the same period. Total incidence was 1/883. When the prenatal screen rate increased to 81. 4% during 2003 to 2004, 3 cases of Down's syndrome among 5273 live birth infants were delivered, and the incidence decreased to 1/1758. Conclusion The approximate incidence of Down's syndrome in present group might be higher than 1/785. Prenatal screening is an effective method to discover the high-risk cases in first and second trimester. Increasing the screening rate in first and second trimester of pregnancy could reduce the incidence of Down's syndrome in live birth infants.