产前诊断对降低出生缺陷率的干预效果

Analysis on interventional effect of prenatal diagnosis on decrease of birth defects rate

目的:分析我院开展产前筛查、遗传咨询、超声产前检查等产前诊断后,活产婴儿中出生缺陷儿发生率下降情况。方法:回顾我院大面积开展产前筛查、遗传咨询、超声产前检查等产前诊断以后的活产婴儿中出生缺陷病例登记,χ2检验统计分析出生缺陷发生率变化。结果:自2004年1月～2007年12月出生13 030例围产儿,男6 808例,女6 219例,性别不明3例,出生缺陷儿222例,出生缺陷发生率为17.04‰;围产儿死亡率为14.35‰,在围产儿死亡中,出生缺陷有逐渐上升的趋势,平均为39.04%。行产前诊断,孕妇知情选择行终止妊娠后足月活产婴儿中的出生缺陷率下降为11.82‰,有极显著差异(χ2=12.47,P<0.001),其中以神经管畸形降幅最大,先天性心脏病、唐氏综合征、总唇裂均有所下降。结论:产前诊断可发现胎儿患有严重出生缺陷,为孕产妇提供了终止病理妊娠的机会,是提高出生人口质量的重要措施之一。

Objective： To analyze the decreasing status of incidence of birth defects among live birth infants after prenatal diagnosis （ prenatal screening, genetic Counseling, ultrasound diagnosis） . Methods： The clinical data of infants with birth defects among live birth infants after prenatal diagnosis （prenatal screening, genetic counseling, ultrasound diagnosis） were analyzed retrospectively, then the changes of incidence of birth defects were analyzed by chi square test. Results： 13 030 perinatal infants were born from January 2004 to December 2007, including 6 808 boys, 6 219 girls and 3 infants of unknown gender. 222 infants were diagnosed as birth defects, the incidence was 17. 04‰, and the mortality of perinatal infants was 14. 35‰. Among the dead perinatal infants, the average incidence of birth defects was 39. 04%, showing an increasing trend. After prenatal diagnosis and selective termination of pregnancy, the incidence of birth defects decreased to 11.82%, there was significant difference （χ^2 = 12.47, P 〈0. 001 ）, the decrease amplitude of neural tube defects ranked first, next came congenital heart disease, Down syndrome and facial cleft. Condusion： Prenatal diagnosis plays an important role in the diagnosis of severe birth defects, and provides a option for termination of pregnancy, which can be used as an important measure to improve the quality of newborn infants.