产前诊断对9339例围生儿出生缺陷干预的影响

目的分析本院开展产前筛查、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。方法回顾本院大量开展产前筛查、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，采取χ^2检验统计、分析出生缺陷的发生率变化。结果2004年1月至2006年12月，在本院共计出生9339例围生儿，男性为4920例，女性为4416例，性别不明为3例；其中，出生缺陷儿为147例，出生缺陷的发生率为15．74‰（147／9339）。行产前诊断后，孕妇知情条件下选择终止妊娠（49例严重出生缺陷儿，经家属及孕妇本人要求，终止妊娠），使足月活产婴儿中的出生缺陷率下降为10．50‰（98／9339），与未开展前比较，差异有显著意义（χ^2=9．93，P〈0．001）。出生缺陷率下降情况分析显示，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性疾病，为孕产妇提供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。

Preventive effect of prenatal diagnosis to birth defects in 9339 cases of living birth infants

Objective To analyze the decreasing change of birth defects rate in living birth infants since launching programs of prenatal screen, genetic counsel, ultrasound screen and prenatal diagnosis in the hospital. Methods To retrospectively analyze the change of birth defect case register in living birth infants after routinely serving prenatal screen, genetic counsel, ultrasound screen and prenatal diagnosis. The change of birth defect rate was analyzed with χ^2 test. Results There were total 9 339 neonates in our hospital, which contained 147 birth defects baby from January 2004 to December 2006 with 4 920 boys, 4 416 girls, and 3 cases of unknown gender. Attribute to prenatal diagnosis and the option of the termination of pregnancy, the birth defects rate decreased from 15. 74‰（147/9 339） to 10. 5‰（98/9 339） in termed living birth infants. There was an extremely significant difference （χ^2=9.93, P〈0. 001）. Among birth defects infants, the incidence of the nerve tube defect decreased sharply. The incidences of the congenital heart disease, Down＇s syndrome, and facial cleft also decreased in different scale separately. Conclusion Prenatal diagnosis plays a key role in the diagnosis of severe birth defects, and provides the options for termination of the pregnancy. More importantly, prenatal diagnosis may contribute to a better overall outcome of neonates.