遗传性疾病史女性孕前咨询要点

Key points of counseling in women with hereditary disease history before pregnancy

随着人类对遗传性疾病认识的加深以及检测技术的快速发展,越来越多的有遗传病史的家庭可以通过产前诊断或者植入前诊断的方式获得健康后代。为了更加准确地提供相关咨询信息,遗传性疾病的诊断与遗传咨询已经成为产科医生必须掌握的技能之一。详细询问病史后利用遗传学基本知识与相应的检测技术,通过对患者及其家系成员实施遗传检测与咨询,寻找导致疾病表型的染色体或基因问题,从而为孕前咨询和获得健康后代提供确诊及预防的依据亦变得尤为重要。文章对有遗传性疾病史的女性如何进行孕前咨询进行阐述。

With the further understanding of hereditary diseases and the rapid development of detecting techniques,more families with a history of genetic diseases could obtain healthy offspring through prenatal diagnosis or preimplantation genetic diagnosis.In order to provide relevant counseling information,the diagnosis and genetic counseling of hereditary diseases have become one of the skills that obstetricians must master.After asking about medical history,through the genetic detecting and genetic counseling in the patients and their family members and by using the basic knowledge of genetics and the corresponding detecting techniques try to find out the chromosomes or genes problems leading to disease phenotype.This becomes very important in order to provide the evidence for diagnosis and prevention in pre-pregnancy counseling and obtaining healthy offsprings.This article will discuss how to perform pre-pregnancy counseling in those families with a history of genetic disease.