降低出生缺陷关键技术及干预措施的研究  

Study on key techniques and intervention in reducing birth defects

作　　者：朱宝生[1] 苏洁[1] 卢晓红[2] 贺静[1] 朱妹[1] 焦存仙[2] 章锦曼[1] 唐新华[1] 陶滢[3] 林克萍[2] 陈红[1] 李苏云[1] 

机构地区：[1]云南省第一人民医院遗传诊断中心,昆明650032 [2]云南省第一人民医院产科,昆明650032 [3]云南省妇幼保健院出生缺陷监测办公室

出　　处：《中华妇产科杂志》2011年第9期658-663,共6页Chinese Journal of Obstetrics and Gynecology

基　　金：云南省科技计划项目（2007CA008）;云南省人才培养引进工程（20080C009）

摘　　要：目的探讨降低出生缺陷的关键技术及干预措施。方法以Duchenne进行性肌营养不良（DMD）、脊肌萎缩症（SMA）、地中海贫血（地贫）、葡萄糖-6-磷酸脱氢酶缺乏症（G6PD）、唐氏综合征（DS）、18三体综合征（ES）、神经管缺陷（NTD）等为目标疾病，调查2007年1月至2009年12月昆明市盘龙区、五华区共5004例孕妇补充叶酸的情况；对云南省第一人民医院、第二人民医院、云南省曲靖市第一人民医院、第二人民医院、曲靖市妇幼医院、云南省临沧市人民医院、昆明玛利亚女子医院、昆明市盘龙区妇幼保健所、云南省大理市妇幼保健院进行产前检查的27660例孕妇，在孕8～20周^＋6进行血清学筛查；对筛查高风险或有其他产前诊断指征的孕妇，经遗传咨询后进行细胞遗传学产前诊断和胎儿超声检查；对有DMD、SMA、地贫、G6PD患儿生育史或家族史的孕妇，用相应的DNA分析技术进行产前基因诊断；随访妊娠结局后评价干预效果。结果5004例孕妇中围孕期补充叶酸者占30．10％（1506／5004）；接受血清学筛查的27660例孕妇中发现DS、ES、NTD高风险孕妇2313例，其中2096例孕妇自愿接受细胞遗传学产前诊断（其中2例为双胎）；另有67例DMD、SMA、地贫、G6PD高风险的孕妇通过遗传咨询自愿接受产前基因诊断。对以上2163例高风险孕妇（共2165例胎儿）进行产前诊断，确诊染色体异常胎儿102例、NTD17例、DMD4例，重型仅地贫1例；经遗传咨询后自愿终止妊娠91例严重出生缺陷胎儿，另有1例双胎之一为DS于孕24周胎死宫内，32例染色体平衡易位或倒位胎儿继续妊娠。接受产前诊断的2163例孕妇足月分娩新生儿2071例，羊膜腔穿刺术后1周内流产2例（胎儿染色体均正常）；有4例血清学筛查高风险孕妇因拒绝接受产前诊断而生育了4例Ds患儿。随机抽样随访5000例血清学筛查低风险孕妇的�Objective To investigate key techniques and intervention in reducing birth defects. Method Down＇s syndrome （ DS）, trisomy-18 （ Edwards syndrome, ES ）, neural tube defects （NTD）, Duchenne muscular dystrophy （DMD）, spinal muscular atrophy （SMA）, thalassemia, and glucose-6-phosphate dehydrogenase deficiency （G6PD） were chosen as target disease. From Jan. 2007 to Dec. 2009, the condition of intake folic acid were investigated in 5004 pregnant women in Panlong District and Wuhua District of Kunming City. All of the 27 660 pregnant women undergoing prenatal examination were enrolled into the study from the First People＇s Hospital of Yunnan Province, the Second People＇s Hospital of Yunnan Province, the First People＇s Hospital of Qujing City, the Second People＇s of Qujing City, Qujing Women and Children＇s Hospital, People＇s Hospital of Lincang City, Kunming Maria Women＇s Hospital,Maternal and Infant＇s Care Unit of Panlong District of Kunming City, Maternal and Infant＇s Hospital of Dali City. The screening was performed on serum of those pregnant women at 8 -20 ＋6 gestational weeks. Prenatal cytogenetic analysis and fetal uhrasonograpy were performed on the high risk or indicated women after genetic counseling. DNA analysis was administered on those women with family or childbearing history of DMD, SMA, thalassemia, or G6PD. Outcome of pregnancy was followed up to evaluate the effect of intervention. Results Approximately 30. 10% （1506/5004） of pregnant women were administered by oral folic acid during perinatal period. Two thousand three hundred and thirteen women with high risks of DS, ES, or NTD fetuses were observed among 27 660 undergoing maternal serum screening. Two thousand and ninety-six pregnant women including two twins pregnant women were performed cytogenetic analysis. Other 67 pregnant women at high risk of DMD, SMA, thalassemia, and G6PD accepted genetic counseling and prenatal gene analysis. Two thousand one hundred and sixty-three pregnant women （2165 fe

关 键 词：先天畸形 血清学试验 产前诊断 叶酸 产前保健 

分 类 号：R714.5[医药卫生—妇产科学]