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与遗传综合征相关的胎儿腹部异常。

Fetal abdominal abnormalities associated with genetic syndromes.

作者信息

Hirata G I, Medearis A L, Platt L D

机构信息

Medical Genetics and Birth Defects Center, UCLA School of Medicine.

出版信息

Clin Perinatol. 1990 Sep;17(3):675-702.

PMID:2225692
Abstract

Sonographic technology has given the prenatal diagnostician the ability to accurately visualize fetal malformations. This article demonstrates the currently available capability of applying sonographically derived information concerning fetal dysmorphology to our knowledge of genetic disorders and syndromes. As a result, there can be a significant improvement in the management and counseling of these patients. After an initial discussion of normal embryology, principles of abdominal ultrasonography are discussed and applied to the following anomalies: omphalocele, gastroschisis, diaphragmatic hernia, duodenal atresia, other intestinal atresias and stenoses, renal anomalies, and obstructive uropathies.

摘要

超声技术使产前诊断医生能够准确地可视化胎儿畸形。本文展示了目前将超声得出的有关胎儿畸形的信息应用于我们对遗传疾病和综合征的认识的能力。因此,这些患者的管理和咨询可能会有显著改善。在初步讨论正常胚胎学之后,讨论腹部超声检查的原则并将其应用于以下异常情况:脐膨出、腹裂、膈疝、十二指肠闭锁、其他肠道闭锁和狭窄、肾脏异常以及梗阻性尿路疾病。

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