Journal
PEDIATRIC RADIOLOGY
Volume 47, Issue 2, Pages 134-145Publisher
SPRINGER
DOI: 10.1007/s00247-016-3725-5
Keywords
Bone; Chondro-osseous disorder; Fetus; Lethal; Skeletal dysplasia; Ultrasound
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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.
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