Guidelines for the prenatal diagnosis of fetal skeletal dysplasias.
The osteochondrodysplasias, or skeletal dysplasias are a genetically heterogeneous group of over 350 distinct disorders, and many of them can present in the prenatal period as demonstrated by ultrasound. Differentiating these disorders in the prenatal period can be challenging because they are rare and many of the ultrasound findings are not necessarily pathognomic for a specific disorder. However, differentiating known lethal disorders from nonlethal disorders, providing differential diagnoses before delivery, determining postdelivery management plans and ultimately determining accurate recurrences risks to the at-risk couples improves patient care. These guidelines provide an approach to a fetus suspected of manifesting a skeletal dysplasia.
Krakow
Deborah
D
Medical Genetics Institute, Cedars-Sinai Medical Center, David Geffen School of Medicine, Los Angeles, California, USA. dkrakow@mednet.ucla.edu
Lachman
Ralph S
RS
Rimoin
David L
DL
D000818:Animals; D005333:Fetus / Q000002:abnormalities*; D006801:Humans; D009139:Musculoskeletal Abnormalities / Q000175:diagnosis / Q000000981:diagnostic imaging; D010009:Osteochondrodysplasias / Q000175:diagnosis* / Q000000981:diagnostic imaging; D017410:Practice Guidelines as Topic; D011296:Prenatal Diagnosis / Q000592:standards*; D016216:Ultrasonography, Prenatal