孕早期经腹行绒毛活组织检查在地中海贫血基因产前诊断中的应用价值  

Early pregnancy abdominal villi biopsy for Mediterranean anemia prenatal gene diagnosis

作　　者：陈汝芳[1] 孙雯雯[1] 陈蔚瑜[1] 崔金环[1] 欧水英[1] 黄淑瑜[1] 曾劲伟[1] 

机构地区：[1]广东省佛山市第一人民医院,528000

出　　处：《实用医技杂志》2014年第1期14-16,共3页Journal of Practical Medical Techniques

摘　　要：目的 探讨孕早期经腹行绒毛活组织检查（TA2CVS）用于地中海贫血基因产前诊断的应用价值.方法 对35例夫妇双方均为地中海贫血基因携带者的高风险孕妇在孕11-13＋6周时进行B超引导下经腹抽取绒毛,并对其胎儿进行绒毛地中海贫血基因检测.结果 35例孕妇经腹抽取绒毛均一次成功,21例α-地中海贫血高风险胎儿中检出Hb Bart′s纯合子4例,左缺失型H病2例,右缺失型H病1例.14例β-地中海贫血的高风险胎儿检出2例IVS-nt 654/CD41-42双重杂合子,1例β41－42纯合子,1例IVS-nt 654纯合子.结论 孕早期B超引导下经腹行绒毛活检能对地中海贫血产前基因作出安全、早期、快速、准确的诊断,从而预防重症患儿的出生,达到优生目的.Objective To discuss the abdominal early pregnancy villi biopsy （TA2CVS） used in the Mediterr anean anemia prenatal gene diagnosis application value. Methods In 35 eases （couple both sides for Mediterranean anemia gene carriers in high-risk pregnant women at 11-13^＋6 week B ultrasonic guidance when abdominal extraction nap, high risk to the fetus to fluff Mediten＇anean anemia genetic testing. Results Thirty-five eases of pregnant women villi suction only one success, 21 eases of alpha MediLerranean anemia risk fetus detection Hb Barrs homozygous 4 eases, left missing type II disease in 2 cases, lack of the right type tt disease in 1.14 eases of beta Mediterranean anemia risk tetal detection in 2 cases IVS-nL 654/CD41-42 double heterozygote, 1 case oft3 41-42 homozygote, 1 case 1VS-nt 654 homozy- gous. Conclusion Early pregnancy B ultras,nit： guided biopsy abdominaldown to the Mediterranean anemia prenatal gene to make satiety, early, rapid and accurate diagnosis, so as to prevent the birth of children with severe to prenatal purpose.

关 键 词：地中海贫血 绒毛膜绒毛取样 产前诊断 

分 类 号：R556.61[医药卫生—血液循环系统疾病]