唐氏征筛查联合胎儿系统超声检测在出生缺陷干预中的应用  

The application of maternal serum marker screening in the second trimester combined B ultrasonography in preventing birth defects

作　　者：江帆 冯善伟 王霞 唐芳 袁玉枝 屈艳霞 左连东 吴伟雄 于冰[2] 

机构地区：[1]广州市人口和计划生育科学研究所,510460 [2]广州医学院附属第三医院

出　　处：《中国优生与遗传杂志》2013年第5期117-118,142,共3页Chinese Journal of Birth Health & Heredity

基　　金：国家十一五科技支撑计划(2006BAI05A02);广东省计生委基金(2008011);(2009208)支持项目

摘　　要：目的探讨孕中期血清学筛查联合胎儿系统超声检查在出生缺陷干预中的应用价值。方法充分发挥广州市人口和计划生育三级服务网络优势,自2007年9月起对黄埔区、番禺区、增城区及天河区孕中期妇女(14-20+6周)进行唐氏综合征筛查,唐氏征筛查高风险的孕妇接受羊水或脐血染色体核型分析,所有孕妇在18-24周接受胎儿系统超声检查,B超筛查提示染色体异常孕妇行胎儿染色体核型分析,每例孕妇追踪随访至胎儿出生。结果在筛查的26 959例孕妇中,唐氏征筛查高风险2098例,其中1227例接受羊水染色体核型分析检查,染色体异常28例。胎儿系统超声检查发现胎儿畸形192例。结论唐氏综合征筛查联合胎儿系统超声检查是进行出生缺陷干预的有效手段。Objective： To investigate the value of B ultrasonography and serological screening for preventing birth defects. Meth- ods： We have utilized the family planning service network of Guangzhou, giving serological screening for pregnant women （ 14 -20 ＋s weeks） in Huangpu district, Panyu district, Tianhe Distrct and Zengchen Distrct gradually. Amniocentesis for fetal karyotype was done in gravidas with high risk by screening. All the pregnant woman （18 -24 weeks） were undergone the routine examination by 2DUS and color Doppler uhrasonography. We arranged a follow - up visit for after childbirth. Results： Among the 26 959 pregnant women, 2098 cases were at high risk and 1227 cases were diagnosed by amniocentesis. 28 fetuses with Chromosomal abnormalities were diagnosed. 192 cases with structural abnormalities were diagnosed by ultrasonic inspection. Conclusion： Combined serum markers detection with ultrasound scan may play an important role in preventing birth defects.

关 键 词：唐氏征筛查 超声检查 出生缺陷干预 

分 类 号：R174[医药卫生—妇幼卫生保健]