Reproductive intervention for inborn errors of metabolism / 中华实用儿科临床杂志

ABSTRACT

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.