孕早中期联合产前筛查实验分析

Down′s Syndrome antenatal screening and diagnosis were analyzed.

目的联合孕早期B超及孕中期母血清检测,提高对唐氏综合征(Down′s Syndrom e,DS)患儿的筛查率。方法对孕早期(11-14 w)孕妇进行B超胎儿颈项部透明层厚度(nuchal translucency th ickness,NT)的测定,以及孕中期(14-20+6w)孕妇进行甲胎蛋白(AFP)和游离-β-绒毛膜促性腺激素(Free-β-HCG)两项血清生化指标检测,经特殊软件计算,对可能影响检测结果的部分因素,如年龄、体重、孕周等加以分析校正,对结果为高危的孕妇进行遗传咨询,在知情同意的情况下进行B超和羊水或脐血培养产前诊断。并随访追踪每例筛查孕妇直至胎儿出生。结果筛查4376例孕妇,孕早期B超检出NT高危43例,孕中期母血清检测DS高危252例,神经管缺陷(Nervous tube defect,NTD)高危78例。发现21-三体综合征4例,其它染色体异常2例;另外12例为染色体正常的出生缺陷。结论孕早期B超测定NT及孕中期母血清生化标志物AFP和Free-β-HCG联合应用,对胎儿先天缺陷尤其是对DS产前筛查有效可行,经产前诊断及时采取措施,降低了这些缺陷儿的出生。

Objective： To improve the screening rate of Down＇s Syndrome （DS） by combination of ultrasonic B examination in early pregnancy and serologic analysis in middle pregnancy. Methods： Detectong nuchal translucency thickness （NT） of early pregnant women （ 11 - 14weeks） by ultrasonic B and examination serum AFP and F - β - HCG of middle pregnant women （ 14 - 20 ^＋6weeks） by biochemical assay. After the examination, results were calculated with special ~oftware , part of the factors such as age , weight and pregnant time that may possibly affect the results were analyzed and rectified. Hereditary consultation was provided for the high risk women, amniocentesis diagnosis was done with their agreement. Each pregnant woman was followed until parturition. Results： 4376 pregnant women accepted antenatal screening, 43 cases of them were at high risk with NT by ultrasonic B, 252 cases were detected at high risk with DS by serologic analysis in middle pregnancy, 78cases were at high risk with NTD. Among 4376 cases, 4cases were DS, other chromsome abnormal 2cases ; 12cases were defect fetal decreased but their chromsome normal. Conclusion： Combination of ultrasonic B in early pregnancy and serum analysis in middle pregnancy were effective and practicable to screen congenital defect especially DS. With antenatal diagnosis, the birth rate of defect fetal decreased.