孕妇外周血中胎儿有核红细胞在性连锁遗传病产前诊断中的初步应用

Prenatal diagnosis of X-linked genetic disease with fetal cells in maternal blood.

目的：探讨利用母血胎儿有核红细胞进行性连锁遗传病产前诊断的可行性；方法：通过密度梯度离心富集母血胎儿有核红细胞，并经流式细胞仪鉴定，对富集后胎儿有核红细胞进行了ＳＲＹ 基因的套式ＰＣＲ检测；结果：５ 例有性连锁遗传病家族史的孕妇外周血中经扩增后３ 例阳性、２ 例阴性，所得结果均得到相应羊水、胎盘ＤＮＡＳＲＹ／ＰＣＲ 检测或出生胎儿生殖器检查结果的证实；

Objective:to discuss the possibility of prenatal diagnosis of X-linked genetic disease with fetal cells in maternal blood.Methods:the fetal nucleated red blood cells were enriched by density gradient centrifugation and demonstrated by flow cytometre analysis. The SRY ene was amplified by nested-PCR from each sample of enriched fetal cells. Results:five pregnant women who have X-linked genetic disease family history were diagnosis by this noninvasive procedure. Three of them are SRY positive and the other two are proved by those of fetal amniocentesis fluid or placental villus. Conclusion:X-linked genetic disease can be early prenatl diagnosis by using fetal nucleated red blood in maternal circulation.