Prenatal Diagnosis of Single-Gene Defects
YAN Kai
JIN Fan
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.
Keywords：Genetic diseasesinbornPrenatal diagnosisPreimplantation diagnosisGenesGenetic counselingSingle-gene defects
Publication Date：2013-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：5( 433-437 )