Prenatal diagnosis of the skeletal dysplasias.
OBJECTIVE
We examined the accuracy of prenatal diagnosis of skeletal dysplasias and ways to refine this ability.


METHODS
A total of 226 fetuses and stillbirths referred for suspected skeletal dysplasia were evaluated. The fetal age, mode of ascertainment, and referring diagnosis were analyzed with regard to the final diagnosis.


RESULTS
The leading mode of diagnosis was routine ultrasonography performed between 16 and 24 weeks' gestation. Twenty-two cases (9.7%) had previous sibs, parents, or cousins affected. The most common final diagnosis was osteogenesis imperfecta. In 15 cases (7%) the fetus did not appear to have a skeletal dysplasia or an obvious dysmorphic syndrome.


CONCLUSIONS
Prenatal diagnosis of skeletal dysplasia can be made as early as 14 weeks. Most cases are sporadic. Fetal radiographs help in reaching an accurate diagnosis or at least in identifying the probable lethal disorders.
Medical Genetics-Birth Defects Center, Cedars-Sinai Medical Center, Los Angeles, CA 90048.
R
R
Sharony
C
C
Browne
R S
RS
Lachman
D L
DL
Rimoin
D001848:Bone Diseases, Developmental / Q000175:diagnosis* / Q000000981:diagnostic imaging; D005260:Female; D005313:Fetal Death / Q000473:pathology; D005315:Fetal Diseases / Q000175:diagnosis* / Q000000981:diagnostic imaging; D005333:Fetus / Q000473:pathology; D005865:Gestational Age; D006801:Humans; D010013:Osteogenesis Imperfecta / Q000175:diagnosis / Q000000981:diagnostic imaging; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011859:Radiography; D016216:Ultrasonography, Prenatal