直至70年代中期,遗传性血液病的产前诊断主要局限于羊水细胞的染色体检查,以对某些伴性遗传性血液病如血友病甲等能作出适当的产前诊断。近年来,随着重组DNA和细胞培养技术快速进展,许多严重的遗传性血液病如血红蛋白异常、先天性凝血障碍等疾患在产前或妊娠早期即可明确诊断。胎儿DNA分析从分子与细胞水平 Until the mid-1970s, prenatal diagnosis of hereditary blood diseases was confined mainly to chromosomal examination of amniotic fluid cells to make appropriate prenatal diagnosis of certain hereditary hematological diseases such as hemophilia A. In recent years, with the rapid progress of recombinant DNA and cell culture technology, many serious hereditary blood diseases such as hemoglobin abnormalities and congenital coagulopathy can be diagnosed clearly in prenatal or early gestation. Fetal DNA analysis from molecular and cellular levels