Evaluating skeletal dysplasias on prenatal ultrasound: an emphasis on predicting lethality

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• 作者：Kathryn S. Milks ; Lyndon M. Hill ; Keyanoosh Hosseinzadeh
• 关键词：Bone ; Chondro ; osseous disorder ; Fetus ; Lethal ; Skeletal dysplasia ; Ultrasound
• 刊名：Pediatric Radiology
• 出版年：2017
• 出版时间：February 2017
• 年：2017
• 卷：47
• 期：2
• 页码：134-145
• 全文大小：
• 刊物类别：Medicine
• 刊物主题：Imaging / Radiology; Pediatrics; Neuroradiology; Nuclear Medicine; Ultrasound; Oncology;
• 出版者：Springer Berlin Heidelberg
• ISSN：1432-1998
• 卷排序：47

文摘

Lethal skeletal dysplasias can be diagnosed by prenatal ultrasound (US) using several sonographic parameters. Degree of femoral shortening, lung volumes, femur length to abdominal circumference ratio, and chest circumference to abdominal circumference ratio are the most sensitive and specific predictors. Although there are more than 450 different skeletal dysplasias, only a few are lethal in the perinatal period. We review current fetal US literature and present an updated algorithmic approach to first establish lethality and, second, evaluate for hallmark sonographic features to help determine a specific diagnosis.