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X连镇隐性疾病某些先天性代谢缺陷X连锁隐性疾病可用生化技术进行产前诊断(见前篇和表3.1)。不能用培养羊水细胞作产前诊断的X连锁隐性疾病(例如Duchenne肌萎缩和血友病),父母可考虑作胎儿染色体检查,断定胎儿的性别,中止男性胎儿的妊娠,以防止病儿的出生。因为当母亲是一个携带者时,其男性胎儿罹病的危险性是50％,女性胎儿不罹病,但是女性胎儿有50％为隐性携带者。母亲是携带者,所生的为携带者的女孩将来也像她的母亲那样以同样的方式传递疾病。有此种情况而想建立家庭的夫妇发现晚期中止男性胎儿妊娠是一种严重的精神负担。表4.1列举了一些可作为胎儿性别指征的X连锁隐性疾病。Duchenne肌萎缩和血友病在实践中,是这种胎儿性别指征最常见的例子。
X Lianzhen hidden disease Some of the congenital metabolic defects X-linked recessive disease biochemical techniques can be used for prenatal diagnosis (see previous articles and Table 3.1). Can not be used for prenatal diagnosis of amniotic fluid cell X-linked recessive diseases (such as Duchenne muscle atrophy and hemophilia), parents may consider fetal chromosome examination, determine the gender of the fetus, stop the pregnancy of male fetuses to prevent sick children Born Because when the mother is a carrier, her male fetus is at risk of being at 50% ill and the female fetus is not ill, but 50% of female fetuses are recessive carriers. The mother is a carrier, and the girl born as a carrier transmits the disease in the same way as her mother in the future. In this situation, couples who want to establish a family find that late termination of male fetus pregnancy is a serious mental burden. Table 4.1 lists some of the X-linked recessive disorders that can be used as indications of fetal gender. Duchenne muscular atrophy and hemophilia are the most common examples of this fetal gender indication in practice.