120例胎儿β地中海贫血产前基因诊断分析

目的β地中海贫血（β地贫）产前基因诊断分析。方法采用等位特异寡核苷酸探针／反向点杂交技术，对７例孕早期绒毛标本，１０２例孕中期羊水标本和１１例孕后期脐血标本进行β地贫产前诊断。结果１２０例产前诊断，检出正常胎儿３０例；β地贫杂合子携带者（轻型）６３例；β地贫纯合子或双重杂合子（重型）２６例；１例由于母方未能查出β突变基因不能确诊。结论对已出生婴儿追踪查访，尚未发现与产前诊断不符的情况，基因诊断准确率达１００％。产前诊断标本以孕中期羊水为最佳选择。

Analysis of prenatal diagnosis for 120 cases of beta-thalassemia]

OBJECTIVE: To analyse the results of prenatal gene diagnosis of beta-thalassemia. METHODS: By using the reverse dot blot method with an allele specific oligonucleotide probe(ASO/DRB). RESULTS: In 120 cases of prenatal gene diagnosis, there are 30 of normal fetal; 63 of beta-thalassemia heterozygotes; 26 of beta-thalassemia homozygotes or dual heterozygotes; one of no diagnosis because the beta mutated gene can not be detected in one side of the parent. CONCLUSIONS: Acording to the follow-up studies, the babies unconcordance with prenatal diagnosis have not been found, the accuracy rate being 100%. Amniotic fluid specimen of the middle stage of pregnancy is the best for detection.