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目的探讨孕妇孕中期产前筛查及羊水诊断的临床应用价值。方法应用时间分辨荧光免疫分析系统对63 739例孕中期妇女进行血清甲胎蛋白(AFP)、游离人绒毛促性腺激素β亚单位(Free-βHCG)和雌三醇(u E3)检测,采用软件评估胎儿患唐氏综合征(DS)、18-三体综合征(ES)和神经管缺陷(NTD)的风险概率。结果 63 739例妊娠妇女中,DS、ES、NTD高风险阳性率分别为2.94%、0.24%和0.88%。2 024例染色体异常高风险孕妇经知情同意有1 058例进行羊水产前诊断,诊断率52.27%。966例高风险孕妇未经羊水染色体产前诊断,经随访共发现不良妊娠结局58例,其中染色体核型异常20例,胎儿畸形38例。2007-2014年8年内共发生5例假阴性,确诊DS 4例,ES 1例。结论孕中期母体血清三联法是有效安全的产前筛查方法,再结合羊水穿刺产前诊断技术,有利于早期发现异常并进行干预,降低先天性缺陷儿的出生率。
Objective To investigate the prenatal screening of pregnant women in the second trimester of pregnancy and the clinical value of amniotic fluid diagnosis. Methods A total of 63 739 pregnant women in the second trimester were tested for serum alpha-fetoprotein (AFP), free-beta HCG and uE3 by time-resolved fluorescence immunoassay. Assess the probability of fetal risk for Down’s syndrome (DS), 18-trisomy syndrome (ES) and neural tube defects (NTD). Results Among 63 739 pregnant women, the positive rates of high risk DS, ES and NTD were 2.94%, 0.24% and 0.88%, respectively. 2 024 cases of high risk of chromosomal abnormalities in pregnant women with informed consent of 1 058 cases of prenatal diagnosis of amniotic fluid, the diagnosis rate was 52.27%. 966 high-risk pregnant women without prenatal diagnosis of amniotic fluid chromosomes, a total of 58 cases of adverse pregnancy outcomes were found, of which 20 cases of chromosomal abnormalities and 38 cases of fetal malformations. During 2007-2014, there were 5 cases of false negatives, 4 cases of DS and 1 case of ES. Conclusion The trimester maternal serum triple therapy is an effective and safe prenatal screening method. Combined with prenatal diagnosis of amniocentesis, prenatal diagnosis of amniotic fluid is conducive to early detection of abnormalities and intervention to reduce the birth rate of congenital defects.