产前胎儿超声异常标记作为侵入性产前诊断指征的临床应用  

Clinical Application of Prenatal Ultrasound Abnormalities as An Indication for Invasive Prenatal Diagnosis

作　　者：潘小英[1] 唐斌[2] 吴菁[1] 钟燕芳[1] 傅文婷[1] 马小燕[1] 朱伟杰[2] 

机构地区：[1]广东省妇幼保健院暨广州医学院附属广东省妇儿医院产前诊断中心,广州510010 [2]暨南大学生命科技学院生殖免疫研究所,广州510632

出　　处：《生殖与避孕》2009年第8期520-523,共4页Reproduction and Contraception

基　　金：国家科技部“十五”科技攻关项目(2002BA709B10);“十一五”科技攻关项目(2006BA10508)

摘　　要：目的:探讨产前胎儿超声异常标记作为侵入性产前诊断指征的临床应用。方法:选择由于产前超声检查见胎儿异常标记而行产前胎儿染色体核型分析的孕妇750例,检测胎儿的染色体异常率。对孕妇年龄<35岁(A组,n=658)与≥35岁(B组,n=92)、超声检查到胎儿有单项异常标记(C组,n=496)与胎儿有≥2项异常标记(D组,n=254),分别比较染色体异常率。结果:750例孕妇中检出胎儿染色体数目异常44例,胎儿染色体异常率为5.9%。A组检出染色体异常率为4.6%(30/658),显著低于B组的15.2%(14/92)(P<0.01)。C组检出染色体异常率为2.8%(14/496),显著低于D组的11.8%(30/254)(P<0.01)。结论:胎儿超声异常标记作为侵入性产前诊断指征,会有较多的胎儿染色体异常被检出,但须合理和谨慎选择。Objective：To analyze the clinical application of prenatal ultrasound abnormalities as an indication for prenatal diagnosis.Methods：A total of 750 cases for prenatal diagnosis in our center were enrolled into this study.These women had prenatal abnormal fetus＇ sonography and had undergone further fetus＇ chromosomal analysis.Chromosomal karyotypes were determined.Results：Among 750 cases,44 cases of fetus＇s chromosomal abnormalities for aneuploidy were detected,and the abnormal incidence was 5.9%.In groups of the normal age（35 years,group A）and the advanced maternal age（≥35 years,group B）,the abnormal incidence was 4.6%（30/658）,15.2%（14/92）,respectively,and group B had higher abnormal incidence（P0.01）.In groups of women with isolated sonographic anomaly（group C）and multiple sonographic anomalies（group D）,the abnormal incidence was 2.8%（14/496）,11.8%（30/254）,respectively,and group D had higher abnormal incidence（P0.01）.Conclusion：Sonographic anomalies as an indication for invasive prenatal diagnosis could have more detective findings for fetus＇ chromosomal abnormalities,and carefully consideration and choosing for use of such techniques would be needed for prenatal genetic counseling.

关 键 词：超声异常标记 染色体 遗传咨询 产前诊断 

分 类 号：R714.5[医药卫生—妇产科学]