妊娠中期筛查唐氏综合征的临床研究

Clinical research on prenatal screening Down′s syndrome (DS) in the second trimester.

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21-三体综合征。两种方法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。

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 diagnostie rate of Down＇s syndrome and obtain the incidenee 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 eare from October, 2007 to March, 2008 in Dalian. Results： serologieal screening of the 3212 eases, 108 eases of DS high - risk pregnant women, four eases confirmed to DS children. Ultrasonography 1515 eases, five eases of high - risk are 21 DStrisomy syndrome. Screening six eases of Down＇s syndrome through above two methods. Screening detection rate is 100%. Down syndrome ineidenee 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 elinieal signifieanee that a number of ultrasound indicators combined with related serum indieators 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.