关键词: 遗传性疾病, 先天性, 产前诊断, 植入前诊断, 基因, 遗传咨询, 单基因病

Abstract: Single-gene defects, which has the unfavorable prognosis, is the main cause of the newborn's defect. Couples can prevent birth of child carrying the same genetic disorder with the proband. Currently, the prenatal diagnosis contains preimplantation genetic diagnosis and trimester prenatal diagnosis. Traditional invasive prenatal diagnosis acquire specimens from fetal relying on surgery. It is accurate, but with a certain risk of miscarriage. The new method of prenatal diagnosis (such as preimplantation genetic diagnosis and non-invasive prenatal diagnosis) and the traditional way are complementary to one another. In this review, we discuss the progress of prenatal diagnosis of Single-gene defects and the significance of genetic counseling in order to provide some ideas in clinical practice.

Key words: Genetic diseases, inborn, Prenatal diagnosis, Preimplantation diagnosis, Genes, Genetic counseling, Single-gene defects