遗传代谢病的生殖干预

Reproductive intervention for inborn errors of metabolism

遗传代谢病是由于代谢紊乱导致的一类疾病，临床表型复杂，是儿童致死、致残、致愚的重要原因，绝大多数无有效的治疗手段。通过产前诊断（PND）或胚胎植入前遗传学诊断（PGD）的生殖干预方式，避免患儿的出生，是出生缺陷防控的重要方面。依据遗传代谢病具有代谢异常和基因突变2个基本特点，现阐述PND/PGD技术在代谢遗传病方面的应用，并提出在携带者筛查基础上进行生殖干预的思路。

Inborn errors of metabolism （IEM） are a large class of genetic diseases caused by congenital metabolic disturbance.IEM results in complex clinical phenotype and it is an important cause of disability, death, and stupidity for the children.The technique of reproductive intervention including prenatal diagnosis （PND） or preimplantation genetic diagnosis （PGD） is an important approach to avoid the birth of defect.According to the two basic characteristics of IEM, metabolic disturbance and gene mutation, the clinical application of PND/PGD technology in IEM are reviewed, and put forward a new idea for reproductive intervention based on carrier screening.