2836例唐氏综合征产前筛查与诊断评价

Evaluation on Antenatal Screening and Diagnosis for Down's Syndrome Among 2836 Pregnant Women

目的探讨通过孕早期B超及孕中期母体血清标志物检测的联合筛查,来提高对唐氏综合征(Down's Syndrome,DS)患儿的筛查率.方法对孕早期(10～14周)孕妇进行B超胎儿颈项部透明层厚度(nuchal translucency thickness,NT)的测定,以及孕中期(15～20+6/7周)孕妇进行甲胎蛋白(AFP)和游离-β-绒毛膜促性腺激素(Free-β-HCG)2项血清生化指标检测,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行羊水培养产前诊断.并随访追踪每例筛查孕妇直至胎儿出生.结果筛查2 836例孕妇,孕早期B超检出NT高危72例,孕中期母体血清检测DS高危205例,神经管缺陷(Nervoustube defect,NTD)高危37例.发现21-三体综合征3例,心脏畸形2例,多发畸形1例,其他异常4例.结论孕早期B超测定NT及孕中期母体血清生化标志物AFP和F-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 combining the ultrasonic B detection in the first trimester of pregnancy with maternal serologic analysis in the second trimester of pregnancy. Methods We detected fetal nuchal translucency （NT） thickness by ultrasonic B in the first trimester of pregnancy （ 10 - 14weeks） and maternal serum AFP and F -β- HCG in the second trimester of pregnancy （15- 20^＋6/7 weeks）. After detection, results were calculated with special software, part of the factors such as age, weight and pregnant time which may affect the results were analyzed and rectified. Hereditary consultation was provided for the high- risk pregnant women, amniocentesis was done with their agreement. Each screened pregnant woman was followed until parturition. Results 2 836 pregnant women accepted antenatal screening. Among them, 72 were detected high - risk for NT by ultrasonic B detection in the first trimester of pregnancy, 205 were detected high - risk for DS by maternal serologic analysis in the second trimester of pregnancy and 37 were detected high- risk for NTD. In addition, we found 3 trisomy 21 cases, 2 heart deformity cases, 1 multiple deformity case and 4 other abnormality cases. Conclusions Combining ultrasonic B detection in the first trimester of pregnancy with maternal serologic analysis in the second trimester of pregnancy is effective and practicable to screen fetal congenital abnormal- ities especially DS. The birth rate of defective fetal can be decreased by antenatal screening and diagnosis.