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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。
Objective To analyze the prenatal genetic diagnosis of β-thalassemia (β thalassemia). Methods Prenatal diagnosis of β-thalassemia was performed in 7 cases of first trimester villus specimens, 102 second trimester amniotic fluid specimens and 11 second trimester umbilical cord blood samples using allele-specific oligonucleotide probe / reverse dot blot hybridization. Results Among the 120 prenatal diagnoses, 30 were detected in normal fetuses, 63 were carriers of β thalassemia heterozygotes (light), 26 were β-thalassemia or double heterozygotes (heavy), 1 were not detected by the mother β mutation gene can not be diagnosed. Conclusion No follow-up prenatal diagnosis has been found for follow-up visits of babies born. The accuracy rate of gene diagnosis is 100%. Prenatal diagnosis of amniotic fluid in the second trimester for the best choice.