地中海贫血高风险胎儿的产前基因诊断  

Prenatal Gene Diagnosis for High Risk Infant of Thalassemia

作　　者：吴晶晶[1] 梁驹卿[1] 马瑞娟[1] 郭浩[1] 郭艳霞[1] 赵丹曦[1] 

机构地区：[1]广东省妇幼保健院产科,广州510010

出　　处：《中华围产医学杂志》2002年第4期251-252,共2页Chinese Journal of Perinatal Medicine

摘　　要：目的　探讨地中海贫血 (简称地贫 )高风险胎儿宫内基因诊断的价值。　方法　 12 8例地中海贫血高风险胎儿于妊娠中期抽取羊水 10～ 2 0 ml或脐血 1m l进行基因诊断。　结果　 12 8例被检胎儿中基因正常 32例 ,α地贫缺失杂合子 38例 ,纯合子 2 7例 ;β地贫单一突变杂合子 18例 ,纯合子 4例 ,双重杂合子 9例 ;β地贫基因突变类型及频率依次为 :CD41- 42 (47.5 % ) ,IVS- - 6 5 4(42 .5 % ) ,CD17(A- T) (7.5 % )及 - 2 8(A- G) (2 .5 % )。无一例发生严重母胎并发症 ,重型地贫胎儿 40例均在知情同意前提下及时终止妊娠。　结论　筛查地贫高风险胎儿并及时进行产前基因诊断安全、有效、准确。在地贫高发区域 ,应作为常规产科检测方法。Objective To evaluate the value of prenatal gene diagnosis for thalassemia. Methods 128 fetuses suspected with thalassemia were performed amniocentesis or cordocentesis for gene diagnosis. Results No severe complications occurred during all procedures. 32 fetuses had normal genotype. 38 were heterozygous and 27 were homozygous of α- thalassemia; 18 were heterozygous, 4 were homozygous and 9 were double heterozygous of β-thalassemia. The types and frequencis of β-thalassemia mutation were CD 41-42(47.5%), IVS-Ⅱ-654(42.5%), 17(A-T)(7.5%) and -28 (A-G)(2.5%) in turn. Pregnancies of 40 fetuses with severe thalassemia were terminated in time. Conclusions The screening and prenatal diagnosis of high risk fetus for thalassemia is safe, effective and accurate. It should be used as an obstetrical routine examination at the region with high thalassemia occurrence.

关 键 词：地中海贫血 胎儿 产前 基因诊断 

分 类 号：R714.5[医药卫生—妇产科学]