CAJ | 학술논문

降低出生缺陷关键技术及干预措施的研究
강저출생결함관건기술급간예조시적연구
Study on key techniques and intervention in reducing birth defects

万方数据

中华妇产科杂志中華婦產科雜誌 중화부산과잡지
CHINESE JOUNAL OF OBSTETRICS AND GYNECOLOGY
2011年 9期 658-663 ,共6页

朱宝生%苏洁%卢晓红%贺静%朱姝%焦存仙%章锦曼%唐新华%陶滢%林克萍%陈红%李苏云

주보생%소길%로효홍%하정%주주%초존선%장금만%당신화%도형%림극평%진홍%리소운

先天畸形%血清学试验%产前诊断%叶酸%产前保健先天畸形%血清學試驗%產前診斷%葉痠%產前保健
선천기형%혈청학시험%산전진단%협산%산전보건
Congenital adnormalities%Serologic tests%Prenatal diagnosis%Folic acid%Prenatal cae

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27 660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27 660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、DMD 4例，重型α地贫l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l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l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妊娠结局，未发现活产儿中有上述目标疾病的患儿。血清学筛查对DS的检出率为84％( 27/32)，假阳性率为6.153％( 1702/27 660)。结论孕前及孕早期补充叶酸可降低出生缺陷风险，但育龄期妇女主动补充叶酸者仅占1/3；血清学筛查可高效检出DS、ES和NTD；遗传咨询对诊断高风险和遗传病家族史的人群至关重要；以血清学筛查和产前诊断为关键技术，与常规产前检查相结合，可以降低严重出生缺陷的发生率，应成为我国的新型围产保健策略。
목적：탐토강저출생결함적관건기술급간예조시。방법이Duchenne진행성기영양불량(DMD)、척기위축증(SMA)、지중해빈혈（지빈）、포도당-6-린산탈경매결핍증(G6PD)、당씨종합정(DS)、18삼체종합정(ES)、신경관결함(NTD)등위목표질병，조사2007년1월지2009년12월곤명시반룡구、오화구공5004례잉부보충협산적정황；대운남성제일인민의원、제이인민의원、운남성곡정시제일인민의원、제이인민의원、곡정시부유의원、운남성림창시인민의원、곤명마리아녀자의원、곤명시반룡구부유보건소、운남성대리시부유보건원진행산전검사적27 660례잉부，재잉8～20주+6진행혈청학사사；대사사고풍험혹유기타산전진단지정적잉부，경유전자순후진행세포유전학산전진단화태인초성검사；대유DMD、SMA、지빈、G6PD환인생육사혹가족사적잉부，용상응적DNA분석기술진행산전기인진단；수방임신결국후평개간예효과。결과5004례잉부중위잉기보충협산자점30.10％ (1506/5004)；접수혈청학사사적27 660례잉부중발현DS、ES、NTD고풍험잉부2313례，기중2096례잉부자원접수세포유전학산전진단（기중2례위쌍태）；령유67례DMD、SMA、지빈、G6PD고풍험적잉부통과유전자순자원접수산전기인진단。대이상2163례고풍험잉부（공2165례태인）진행산전진단，학진염색체이상태인102례、NTD17례、DMD 4례，중형α지빈l례；경유전자순후자원종지임신91례엄중출생결함태인，령유l례쌍태지일위DS우잉24주태사궁내，32례염색체평형역위혹도위태인계속임신。접수산전진단적2163례잉부족월분면신생인2071례，양막강천자술후l주내유산2례（태인염색체균정상）；유4례혈청학사사고풍험잉부인거절접수산전진단이생육료4례DS환인。수궤추양수방5000례혈청학사사저풍험잉부적임신결국，미발현활산인중유상술목표질병적환인。혈청학사사대DS적검출솔위84％( 27/32)，가양성솔위6.153％( 1702/27 660)。결론잉전급잉조기보충협산가강저출생결함풍험，단육령기부녀주동보충협산자부점1/3；혈청학사사가고효검출DS、ES화NTD；유전자순대진단고풍험화유전병가족사적인군지관중요；이혈청학사사화산전진단위관건기술，여상규산전검사상결합，가이강저엄중출생결함적발생솔，응성위아국적신형위산보건책략。
ObjectiveTo 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 folie 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 ultrasonogrspy 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 fetuses) underwent prenatal examination. One hundred and two cases chromosome abnormalities, 17 cases NTD, 4 cases DMD, 1 cases α-thalassemia major were found. All of the 91 fetuses with major birth defects were terminated after genetic counseling. Another affected DS fetus in a twin pregnancy dead intrauterine at 24 gestational weeks. Thirty-two women bearing fetuses with balanced translocations or inversions continued their pregnancies. Totally 2071 normal term fetuses were born in the prenatal diagnosis group. Two fetuses with normal chromosome were lost within 1 week after amniocentesis. Four affected DS fetuses were born from their high risk mothers who refused further prenatal diagnosis service. In a random sampling follow-up cohort of 5000 mothers at low risk, none of affected child suffering target diseases was found. The DS detection rate of maternal serum screening was 84％ (27/32), with the false positive rate was 6. 153％ (1702/27 660).Conclusions Folic acid intake before conception and in the first trimester would reduce the risk of birth defects, only 1/3 reproductive women took folie acid actively. Maternal serum screening could effectively detect high risk of DS, ES and NTD. The genetic counseling is critical in women at high risk or who had family history of inherited disorders. The prenatal screening and diagnosis combined with routine obstetric care could reduce the incidence of major birth defects, which should become prenatal care strategy in our country.