妊娠中期二联唐氏综合征筛查法在浙南地区32188例孕妇中的筛查效率
임신중기이련당씨종합정사사법재절남지구32188례잉부중적사사효솔
Efficiency of second trimester screenings for Down syndrome using alpha-fetoprotein and β-human chorionic gonadotropin duplex in 32 188 cases in south Zhejiang
  • 万方数据
    中华围产医学杂志 중화위산의학잡지
    CHINESE JOURNAL OF PERINATAL MEDICINE
    2011年 12期 716-719 ,共4页

    蔡珠华%郑戈%蔡文侠%金丽桂%金环环%林月红%周淑春%戴洁%曹华妹

    채주화%정과%채문협%금려계%금배배%림월홍%주숙춘%대길%조화매

    唐氏综合征%产前诊断%新生儿筛查%随访研究 唐氏綜閤徵%產前診斷%新生兒篩查%隨訪研究
    당씨종합정%산전진단%신생인사사%수방연구
    Down's syndrome%prenatal diagnosis%Neonatal screening%Follow up studies
    目的 采用二联法(母血清甲胎蛋白和β-人绒毛膜促性腺激素)对浙南地区妊娠中期孕妇进行唐氏综合征筛查,评估其筛查效率. 方法 对本地区孕妇根据知情同意原则在妊娠中期取羊水进行常规二联唐氏综合征筛查,筛查出的高风险(≥1∶270)孕妇采用羊膜腔穿刺、羊水细胞培养和染色体核型分析进行产前诊断.通过本地区的三级妇幼保健网对本地区行产前唐氏综合征筛查或未行筛查的孕母分娩的新生儿进行临床随访,对可疑唐氏综合征的新生儿行外周血染色体核型分析进行诊断.正态分布计量资料采用均数±标准差(x-±s)表示,组间差异比较采用两独立样本t检验；计数资料用率表示,组间差异比较采用x2检验.唐氏综合征的危险概率用随机筛查软件进行统计分析. 结果 2007年10月至2010年5月,本地区共32 188例单胎妊娠孕妇接受筛查,唐氏综合征高风险者为1130例,低风险31 058例.高风险者中90.79％(1026/1130)接受产前诊断,确诊7例唐氏综合征胎儿均引产终止妊娠；另外104例未接受产前诊断的孕妇分娩1例唐氏综合征患儿.31 058例低风险者中新生儿出生后确诊唐氏综合征6例,发生率0.19‰.接受产前筛查者中唐氏综合征患病率为0.43‰(14/32 188).妊娠中期二联唐氏综合征筛查检出率为57.14％(8/14),假阳性率为3.48％(1122/32 188),阳性预测值为7.08‰(8/1130).同期,由于各种原因未接受唐氏综合征产前筛查的孕妇达到23 813例,分娩唐氏综合征患儿15例,患病率0.63‰.与接受筛查者中的患病率(0.43‰)差异无统计学意义(x2=1.004,P＞0.05).本地区唐氏综合征总体患病率为0.52‰(29/56 001). 结论 产前筛查和诊断可以减少唐氏综合征患儿出生.但本研究中妊娠中期二联唐氏综合征筛查法的检出率、假阳性率和阳性预测值均较低,可能与本研究所采用的正常值范围并不适用于中国人群有关.
    목적 채용이련법(모혈청갑태단백화β-인융모막촉성선격소)대절남지구임신중기잉부진행당씨종합정사사,평고기사사효솔. 방법 대본지구잉부근거지정동의원칙재임신중기취양수진행상규이련당씨종합정사사,사사출적고풍험(≥1∶270)잉부채용양막강천자、양수세포배양화염색체핵형분석진행산전진단.통과본지구적삼급부유보건망대본지구행산전당씨종합정사사혹미행사사적잉모분면적신생인진행림상수방,대가의당씨종합정적신생인행외주혈염색체핵형분석진행진단.정태분포계량자료채용균수±표준차(x-±s)표시,조간차이비교채용량독립양본t검험；계수자료용솔표시,조간차이비교채용x2검험.당씨종합정적위험개솔용수궤사사연건진행통계분석. 결과 2007년10월지2010년5월,본지구공32 188례단태임신잉부접수사사,당씨종합정고풍험자위1130례,저풍험31 058례.고풍험자중90.79％(1026/1130)접수산전진단,학진7례당씨종합정태인균인산종지임신；령외104례미접수산전진단적잉부분면1례당씨종합정환인.31 058례저풍험자중신생인출생후학진당씨종합정6례,발생솔0.19‰.접수산전사사자중당씨종합정환병솔위0.43‰(14/32 188).임신중기이련당씨종합정사사검출솔위57.14％(8/14),가양성솔위3.48％(1122/32 188),양성예측치위7.08‰(8/1130).동기,유우각충원인미접수당씨종합정산전사사적잉부체도23 813례,분면당씨종합정환인15례,환병솔0.63‰.여접수사사자중적환병솔(0.43‰)차이무통계학의의(x2=1.004,P＞0.05).본지구당씨종합정총체환병솔위0.52‰(29/56 001). 결론 산전사사화진단가이감소당씨종합정환인출생.단본연구중임신중기이련당씨종합정사사법적검출솔、가양성솔화양성예측치균교저,가능여본연구소채용적정상치범위병불괄용우중국인군유관.
    Objective To evaluate the efficiency of second trimester screenings for Down syndrome using alpha-fetoprotein and β-human chorionic gonadotropin duplex. Methods Pregnant women of south Zhejiang were screened for Down syndrome fetuses by maternal alpha-fetoprotein and β-human chorionic gonadotropin duplex during second trimester.The high-risk women underwent prenatal diagnosis by amniocentesis,cell culture and chromosome analysis.The newborns followed up by the maternal and child tertiary health care network and suspected to have Down syndrome were diagnosed by peripheral blood chromosome analysis.Statistical analysis was performed using two-sample t test and x2 test.Risk probability of Down Syndrome was calculated by random screening software. Results From Oct.2007 to May 2009,1130 of 32 188 singleton pregnant women in second trimester received prenatal screening were discovered with high risk(≥1 ∶ 270).Prenatal diagnosis was performed in 90.79％ cases (1026/1130) of high risk women and seven fetuses were diagnosed as Down syndrome by amniotic fluid chromosome analysis,and the pregnancies were terminated.Among the other 104 cases without prenatal diagnosis one Down syndrome baby was delivered.Six of 31 058 pregnancy women with low risk delivered Down syndrome babies with the incidence of Down syndrome of 0.19‰ (6/31 058).Detection rate of second trimester screenings for Down syndrome using alpha-fetoprotein and β-human chorionic gonadotropin duplex was 57.14％(8/14).False positive rate was 3.48％ (1122/32 188).Positive predictive value was 7.08‰(8/1130).During the same period,there were 23 813 pregnant women who didn't receive screening and 15 fetuses with Down syndrome were diagnosed after birth.There was no statistical difference in the prevalence rate of Down syndrome between those pregnant women who received prenatal screening or not [0.43‰ (14/32 188) vs 0.63‰ (15/23 813),x2 =1.004,P＞0.05].The prevalence of Down syndrome was 0.52‰ (29/56 001) in this area. Conclusions The prenatal screening and diagnosis could reduce the birth rate of Down syndrome patients.However,detection rate,false positive rate and positive predictive value of which were lower than reports in other studies.It's possible that the reference data might be not suitable for Chinese.
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