160例孕妇羊水地中海贫血基因诊断结果和临床分析

目的回顾性分析160例羊水地中海贫血基因诊断结果及孕妇围产期超声结果，探讨较为合理的产前诊断与干预处理方案。方法在160例有重型地中海贫血遗传风险的胎儿的羊水分别运用gag—PCR法和PCR—RDB法进行产前基因诊断。结果117例夫妇同为α地贫基因携带者孕妇的胎儿中检出正常胎儿38例32．5％（38／117），α地贫基因携带者57例48．7％（57／117），地中海贫血水肿胎（Bartg水肿胎）22例18．8％（22／117）。43例夫妇同为β地贫基因携带者孕妇的胎儿中检出正常胎儿16例37．2％（16／43），13地贫基因携带者15例34．9％（15／43），B重型胎儿12例27．9％（12／43）。34例重型地贫胎儿均已引产。结论gag—PCR与PCR—RDB在产前羊水基因诊断中占据重要地位，对于无创性超声产前诊断的应用，也起到了重要的诊断和补充作用。

The gene diagnosis and clinical analysis of the mediterranean anemia of the amniotic fluid in 160 cases

Objective ： To retrospectively analyze 160 cases of mediterranean anemia prenatal gene diagnosis and perinatal pregnant women ultrasound results, and discuss more reasonable prenatal diagnosis and intervention treatment scheme. Methods： In 160 cases of high- risk fetal amniotic fluid, respectively use gag-PCR Act and PCR -RDB Act for prenatal genetic diagnosis. Resuhs： That 38 cases of normal fetus accout for 32. 5% （38/117）, 57 cases of deletion form accout for 48. 7% （57/117）, and 22 cases of Hb Bart＇s hydrops fetalis tire having heavy α -thalassemia accout for 18. 8% （22/117） are detected in the 117 cases of fetus whose parents are the same type of α - thalassemia gene carriers. That 16 cases of normal fetus accout for 37.2% （ 16/43）, 15 cases of heterozygotes ac-cout for 34. 9% （ 15/43 ）, and 12 cases of fetus having heavy β - thalassemia accout for 27.9% （ 12/43 ） are detected in the 43 cases of fetus whose parents are the same type of β - thalassemia gene carriers. 34 heavy - duty fetus cases all have been induced labor. Conclusion ： gag - PCR Act and PCR - RDB Act occupy an important position in prenatal genetic diagnosis of amniotic fluid. Applica- tion of noninvasive prenatal diagnosis has played an important role in diagnosis and supplement.