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遗传疾病及其他出生缺陷的产前诊断,近十年来进展很快,而且诊断范围逐渐扩大。我院自1982年开设了遗传咨询门诊,4年多时间对临床可疑异常,特别是既往出生过先天异常儿的孕妇244例进行了产前诊断,其中随访至分娩者156例。现将体会总结如下。一、羊水染色质检查:胎儿性别的产前诊断方法是检查羊水中的性染色质,即x及y染色质。血友病是一种少见的x连锁隐性遗传病,其致病基因在x染色体上。如x连锁隐性遗传病的女性携带者与正常男性婚配后,所生女孩1/2为携带者,1/2为正常;男孩1/2为正常,1/2为血友病。如果与患血友病的男性婚配后,其父染色体上的致病基因与其母带致病基因的x染色体相遇,所生女孩为血友病。因此对一些严重的
Prenatal diagnosis of genetic diseases and other birth defects, the rapid progress of the past decade, and gradually expand the scope of diagnosis. Our hospital since 1982, opened a genetic counseling clinic, more than 4 years of clinical suspicious abnormalities, especially in the past have been born in 244 cases of pregnant women with prenatal diagnosis of prenatal diagnosis, of which 156 cases were followed up until delivery. The experience will now be summarized as follows. First, amniotic fluid chromatin examination: prenatal fetal sex is to check the sex amniotic fluid chromatin, that is, x and y chromatin. Hemophilia is a rare x-linked recessive genetic disease, the pathogenic genes in the x chromosome. If x-linked recessive disease of female carriers and normal men after marriage, the girls born 1/2 for the carrier, 1/2 is normal; 1/2 of the boys are normal, 1/2 is hemophilia. If males with hemophilia get married, the virulence gene on their parent chromosome meets the x chromosome of their maternal causative gene and the resulting girl is hemophilia. So for some serious ones