Carlson D E, Platt L D
Department of Obstetrics and Gynecology, University of California, Los Angeles School of Medicine 90048.
J Reprod Med. 1992 May;37(5):419-26.
The prenatal detection of genetic diseases has improved remarkably. This review highlights several diagnoses that are possible to identify by ultrasound examination of the fetus, including cystic fibrosis, skeletal dysplasias, kidney diseases, cardiac disease and central nervous system disorders. Ultrasound clues to the possible existence of several syndromes and aneuploidy are also outlined.
遗传性疾病的产前检测有了显著改善。本综述重点介绍了几种可通过胎儿超声检查识别的诊断,包括囊性纤维化、骨骼发育不良、肾脏疾病、心脏病和中枢神经系统疾病。还概述了几种综合征和非整倍体可能存在的超声线索。