CAJ | 학술논문

为探讨检测孕妇孕中期血清中甲胎蛋白（ hAFP ）及游离-β人绒毛膜促性腺激素（ Free β-HCG）2项标志物对唐氏筛查的临床价值，对2008年1月至2013年8月在黄石市妇幼保健院进行产前检查的10812例孕妇在妊娠14～20＋6周期间采取知情同意原则，进行血清 hAFP 及 Free β-HCG检测，对于唐氏筛查结果为高风险孕妇于20～24周行羊膜腔穿刺进行羊水细胞染色体核型分析，并对唐氏筛查结果进行可行性分析。结果为：10812例孕妇中有535例为高风险患者，高风险率为4．94％，其中21-三体阳性340例；18-三体阳性36例；神经管缺陷（ NTD）阳性为159例。355例高风险孕妇行羊膜腔穿刺，发现羊水细胞染色体异常14例，异常检出率为3．94％，其中21-三体9例，18-三体2例，其他染色体异常3例。孕中期唐氏筛查结合羊水细胞染色体核型分析能有效降低唐氏儿及神经管缺陷等患儿的出生率，在产前诊断中有重要的应用价值。
위탐토검측잉부잉중기혈청중갑태단백（ hAFP ）급유리-β인융모막촉성선격소（ Free β-HCG）2항표지물대당씨사사적림상개치，대2008년1월지2013년8월재황석시부유보건원진행산전검사적10812례잉부재임신14～20＋6주기간채취지정동의원칙，진행혈청 hAFP 급 Free β-HCG검측，대우당씨사사결과위고풍험잉부우20～24주행양막강천자진행양수세포염색체핵형분석，병대당씨사사결과진행가행성분석。결과위：10812례잉부중유535례위고풍험환자，고풍험솔위4．94％，기중21-삼체양성340례；18-삼체양성36례；신경관결함（ NTD）양성위159례。355례고풍험잉부행양막강천자，발현양수세포염색체이상14례，이상검출솔위3．94％，기중21-삼체9례，18-삼체2례，기타염색체이상3례。잉중기당씨사사결합양수세포염색체핵형분석능유효강저당씨인급신경관결함등환인적출생솔，재산전진단중유중요적응용개치。
Objective: To study and detect clinical value of two markers which were fetoprotein ( h AFP ) and Free β-HCG for mid -pregnant women's Down Syndrome screening.Methods: With the informed consent principle , 10 , 812 cases of pregnant women during the 14 to 20+6 weeks of gestation whose antenatal exam-ination were done in Huangshi Maternal and Child Health Hospital were conducted with serum h AFP and Free β-HCG detection .The high -risk pregnant women during 20 to 24 weeks were performed by amnio-centesis and chromosome karyotype of amniotic fluid cells was analyzed .The results of Down Syndrome screening were used to make the feasibility analysis .Results: There were 535 high risk patients among 10 , 812 cases , high -risk rate was 4 .94%, including 340 cases of Trisomy 21-positive;159 cases of neural tube defects ( NTD) positive in 159 cases.355 cases of high risk pregnant women underwent amniocentesis and amniotic fluid cells were found abnormal in 14 cases, the abnormal rate was 3.94%, including 9 cases of 21-trisomy, 2 cases of 18 -trisomy, other 3 cases of chromosomal abnormalities.Conclusion: Down Syndrome screening combined with analysis of karyotype of amniotic cells can effectively reduce the birth rate of babies with Down Syndrome and neural tube defects , which is of a great value for the prenatal diagnosis .