Prenatal sonographic diagnosis of skeletal dysplasias
Article first published online: 22 JUN 2009
Copyright © 2009 ISUOG. Published by John Wiley & Sons, Ltd.
Ultrasound in Obstetrics & Gynecology
Volume 34, Issue 2, pages 160–170, August 2009
How to Cite
Schramm, T., Gloning, K. P., Minderer, S., Daumer-Haas, C., Hörtnagel, K., Nerlich, A. and Tutschek, B. (2009), Prenatal sonographic diagnosis of skeletal dysplasias. Ultrasound Obstet Gynecol, 34: 160–170. doi: 10.1002/uog.6359
- Issue published online: 30 JUL 2009
- Article first published online: 22 JUN 2009
- Manuscript Accepted: 19 FEB 2009
- hypoplastic thorax;
- malformation syndromes;
- prenatal diagnosis;
- skeletal dysplasias
To assess the types and numbers of cases, gestational age at specific prenatal diagnosis and diagnostic accuracy of the diagnosis of skeletal dysplasias in a prenatal population from a single tertiary center.
This was a retrospective database review of type, prenatal and definitive postnatal diagnoses and gestational age at specific prenatal diagnosis of all cases of skeletal dysplasias from a mixed referral and screening population between 1985 and 2007. Prenatal diagnoses were grouped into ‘correct ultrasound diagnosis’ (complete concordance with postnatal pediatric or pathological findings) or ‘partially correct ultrasound diagnosis’ (skeletal dysplasias found postnatally to be a different one from that diagnosed prenatally).
We included 178 fetuses in this study, of which 176 had a prenatal ultrasound diagnosis of ‘skeletal dysplasia’. In 160 cases the prenatal diagnosis of a skeletal dysplasia was confirmed; two cases with skeletal dysplasias identified postnatally had not been diagnosed prenatally, giving 162 fetuses with skeletal dysplasias in total. There were 23 different classifiable types of skeletal dysplasia. The specific diagnoses based on prenatal ultrasound examination alone were correct in 110/162 (67.9%) cases and partially correct in 50/162 (30.9%) cases, (160/162 overall, 98.8%). In 16 cases, skeletal dysplasia was diagnosed prenatally, but was not confirmed postnatally (n = 12 false positives) or the case was lost to follow-up (n = 4). The following skeletal dysplasias were recorded: thanatophoric dysplasia (35 diagnosed correctly prenatally of 40 overall), osteogenesis imperfecta (lethal and non-lethal, 31/35), short-rib dysplasias (5/10), chondroectodermal dysplasia Ellis-van Creveld (4/9), achondroplasia (7/9), achondrogenesis (7/8), campomelic dysplasia (6/8), asphyxiating thoracic dysplasia Jeune (3/7), hypochondrogenesis (1/6), diastrophic dysplasia (2/5), chondrodysplasia punctata (2/2), hypophosphatasia (0/2) as well as a further 7/21 cases with rare or unclassifiable skeletal dysplasias.
Prenatal diagnosis of skeletal dysplasias can present a considerable diagnostic challenge. However, a meticulous sonographic examination yields high overall detection. In the two most common disorders, thanatophoric dysplasia and osteogenesis imperfecta (25% and 22% of all cases, respectively), typical sonomorphology accounts for the high rates of completely correct prenatal diagnosis (88% and 89%, respectively) at the first diagnostic examination. Copyright © 2009 ISUOG. Published by John Wiley & Sons, Ltd.