产前诊断对活产婴儿出生缺陷顺位影响的研究  

Prenatal diagnosis's effect on the rank order of birth defects in liveborn infant

作　　者：林克萍[1] 朱宝生[2] 董旭东[1] 刘焕玲[1] 颜芳[1] 胡云英[1] 章锦曼[2] 苏洁[2] 

机构地区：[1]云南省第一人民医院产科,云南昆明650032 [2]云南省第一人民医院遗传诊断中心,云南昆明650032

出　　处：《中国现代医学杂志》2010年第16期2503-2507,2510,共6页China Journal of Modern Medicine

基　　金：云南省"十一五"社会发展项目(No:2007CA008)资助

摘　　要：目的分析开展产前筛查、遗传咨询及超声产前检查等产前诊断服务,对确诊异常的部分胎儿进行干预性终止妊娠后,了解活产婴儿出生缺陷发生率及出生缺陷顺位的变化。方法对该院自2004年1月～2008年12月开展产前筛查、遗传咨询及超声产前检查等产前诊断和干预性终止妊娠后的活产婴儿出生缺陷病例进行统计描述和统计分析。结果①该院自2004年1月～2008年12月共出生围产儿16602例,男性8713例,女性7885例,性别不明4例;出生缺陷儿308例,围产期出生缺陷发生率为18.55‰;②产前诊断确诊为严重畸形胎儿97例,终止妊娠后,使出生缺陷率由18.55‰下降为12.71‰,差异有显著性(χ2=18.42,P<0.001);其中,以神经管畸形降幅最为明显,先天性心脏病、唐氏综合征及总唇裂均有所下降,改变了原出生缺陷顺位。严重出生缺陷顺位后移,但干预前后先天性心脏病仍居出生缺陷顺位之首。结论①产前诊断及干预性终止妊娠可降低活产婴儿的出生缺陷发生率,使出生缺陷顺位发生了改变。②产前诊断并干预性终止妊娠对减少社会疾病负担有巨大的贡献。【Objective】 To investigate the downtrend of birth-defect rank in liveborn infant after prenatal screening,ultrasound examination,genetic counseling and consequent termination of pregnancies for malformations.Also the change of the rank order of birth defects incident rate in liveborn infants were evaluated.【Methods】 Prenatal screening,ultrasound examination and prenatal diagnosis were offered to pregnant women in prenatal care.And the birth defects in liveborn infants were surveilled.All the results were analysed statistically.【Results】From January 2004 to December 2008,16 602 perinatal babyies were enrolled,including 8 713 males babies,7 885 females babies,and 4 babies with ambiguous genitals.Birth defects were found in 308 cases.The perinatal birth defects rate was 18.55‰;With the termination of pregnancy in 97 cases that were diagnosed of main malformations prenataly,the birth defects rate are significantly declined with statistical difference（χ2=18.42,P 0.001） from 18.55‰ to 12.71‰.The incidence of neural tube defect dropped most significantly among all birth defects.The incidence of congenital heart disease.Down＇s syndrome,and cleft lip also reduced reasonably.Accordingly,the rank order of birth defects in liveborn infants changed compared to that without intervention.But the incidence of congenital heart disease was the highest unchanged with or without intervention.【Conclusion】Prenatal diagnosis and selected termination of pregnancy plays an important role in the reduction of incidence of birth defect in liveborn infants.Also the distribution of birth defects in newborns changes.

关 键 词：出生缺陷 出生缺陷顺位 产前诊断 干预性终止妊娠 

分 类 号：R714.5[医药卫生—妇产科学]