title: Evaluating skeletal dysplasias on prenatal ultrasound: an emphasis on predicting lethality.
abstract: 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.
authors.affiliation: Department of Radiology, Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH, 43205, USA. ks.mueller@gmail.com.
authors.forename: Kathryn S
authors.initials: KS
authors.lastname: Milks
authors.affiliation: Department of Obstetrics, Gynecology, and Reproductive Sciences, Magee Women's Hospital, University of Pittsburg Medical Center, Pittsburgh, PA, USA.
authors.forename: Lyndon M
authors.initials: LM
authors.lastname: Hill
authors.affiliation: Department of Radiology, Wake Forest Baptist University School of Medicine, Winston-Salem, NC, USA.
authors.forename: Keyanoosh
authors.initials: K
authors.lastname: Hosseinzadeh
mesh_terms: D000465:Algorithms; D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging*; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging*; D006801:Humans; D011237:Predictive Value of Tests; D011247:Pregnancy; D016216:Ultrasonography, Prenatal
keywords: Bone; Chondro-osseous disorder; Fetus; Lethal; Skeletal dysplasia; Ultrasound