产前诊断的机遇与挑战-第三军医大学学报.DOCVIP

产前诊断和宫内治疗的技术进展与展望 梁志清（400038 重庆，第三军医大学西南医院妇产科，全军计划生育优生优育技术中心，） Progress and prospect of prenatal diagnosis and intrauterine therapy Liang zhiqing (Center for Prenatal Diagnosis, Department of Obstetrics and Gynecology, Southwest Hospital, Third Military Medical University, Chongqing, 400038, China） [Abstract] Prenatal diagnosis is to test for birth d diseases or conditions in an unborn child, such as chromosome abnormalities, single gene disorders and multigenic diseases. Through a variety of techniques, we can check the diseases or conditions of fetus before it is born. At present some new techniques provide chance for prenatal diagnosis, for example, fetal free DNA, comparative genomic hybridization (CGH), sequencing and imageology methods, meanwhile some difficult give us challenge. A growing spectrum and complex genetic mechanism of fetal disease become challenges for prenatal diagnosis and fetal therapy. Further improvements in molecular techniques, etoscopic equipment, intrauterine surgical technique, and gene therapy would promote the development of prenatal diagnosis and fetal medical science. [Key words] prenatal diagnosis; birth defect; intrauterine therapy; fetoscopy Corresponding author: Liang Zhiqing, Tel: 86-23-；E-mail: zhi.lzliang@ The progress and prospect of prenatal diagnosis and intrauterine therapy Liang zhiqing (Center for Prenatal Diagnosis， The Department of Obstetric and Gynecology， Southwestern Hospital， Third Military Medical University， ChongQing，400038，China） [Abstract] Prenatal diagnosis is testing for diseases or conditions in a fetus or embryo before it is born. The aim is to detect birth defects such as chromosome abnormalities, single gene diseases and multigenic diseases. Prenatal diagnosis employs a variety of techniques to determine the health and condition of an unborn fetus. At present some new techniques provide chance for prenatal diagnosis, meanwhile some difficult give us challenge. A growing spectrum of fetal