妊娠中期筛查唐氏综合征的临床研究.doc

妊娠中期筛查唐氏综合征的临床研究 武雄飞 张宇虹 武天石 丁伟 杨光 孙波 李忠民 马新光 摘要 目的：多项超声指标并结合血清相关指标对唐氏综合征（DS）在妊娠中期进行产前筛查，提高产前唐氏综合征的诊断率，获得本地区唐氏综合征的发病率。方法：对大连市2007年10月-2008年3月，在门诊进行产前检查的孕妇行二联血清学及多项超声指标筛查。结果：二联血清学筛查3212例，DS高危孕妇108例，有4例证实为DS患儿。超声检查1515例，DS高危共5例，均为21三体综合症。两种方共筛查出唐氏综合征6例。总筛查检出率为100%。唐氏综合征发生率为9.59/ 10000（20/ 20859），活产新生儿唐氏综合征发生率为6.71/10000（14/20859）。结论：多项超声指标结合血清相关指标对唐氏综合征在妊娠中期进行产前筛查，可以提高产前唐氏综合征的诊断率，对于减少出生缺陷发生率，具有重要的临床意义。 关键词 唐氏综合征 超声 血清学 妊娠中期 产前筛查 clinical research on prenatal screening Down's syndrome (DS) in the second trimester wu xiongfei,zhang yuhong, wu tianshi,ding wei,yang guang,shao xiaoguang.Dalian obstetrics and gynecology hospital, dalian 116033 Abstract Objective：A number of ultrasound indicators combined with related serum indicators prenatal screening Down's syndrome (DS) in the second trimester, so that we can improve prenatal diagnostic rate of Down's syndrome and obtain the incidence of Down's syndrome in the region. Methods：In the clinic screening the serology and a number of indicators of ultrasound to pregnant women for prenatal care from October ，2007 to March, 2008 in Dalian. Results: serological screening of the 3212 cases, 108 cases of DS high-risk pregnant women, four cases confirmed to DS children. Ultrasonography 1515 cases, five cases of high-risk are 21 DStrisomy syndrome. Screening six cases of Down's syndrome through above two methods. Screening detection rate is 100％. Down syndrome incidence is 9.59 / 10000 (20 / 20,859) and neonatal Down syndrome live births occurred in 6.71/10000 (14/20859). Conclusion: It is an important clinical significance that a number of ultrasound indicators combined with related serum indicators prenatal screening Down's syndrome (DS) in the second trimester Can improve prenatal diagnosis of Down's syndrome, to reduce the incidence of birth defects. Keywords: Down's syndrome /ultrasound /serum /in the second trimester /prenatal screening 本研究采用了多项超声指标并结合血清相关指标对唐氏综合征在妊娠中期进行产前筛查，以期提高产前唐氏综合征的诊断率，同时获得本地区唐氏综合征的发