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Fetal Diagn Ther. 2011;29(3):238-47. doi: 10.1159/000322212. Epub 2011 Jan 4.

Prenatal diagnosis of skeletal dysplasias: contribution of three-dimensional computed tomography.

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1
Department of Radiology, Hospital Italiano de Buenos Aires, Universidad de Buenos Aires, Argentina. marina.ulla @ hospitalitaliano.org.ar

Abstract

OBJECTIVE:

To describe the contribution of 3-dimensional computed tomography (3D-CT) in the prenatal diagnosis of skeletal dysplasias (SD) in a cohort of patients with inconclusive diagnosis by ultrasound (US).

METHODS:

Between May 2007 and February 2010, six pregnant women with suspected fetal SD on US examination but with no specific diagnosis were studied with 3D-CT. The images were evaluated by a multidisciplinary team who proposed a likely diagnosis. Further postnatal workup included clinical and radiological evaluation in all cases. Prenatal and postnatal diagnoses were compared.

RESULTS:

The use of 3D-CT provided a precise diagnosis confirmed postnatally in 5/6 patients. These included osteogenesis imperfecta type II (n = 2), osteogenesis imperfecta type III (n = 1), chondrodysplasia punctata (n = 1) and thanatophoric dysplasia type I (n = 1). A precise diagnosis could not be made in 1 case - either pre- or postnatally.

CONCLUSION:

Prenatal 3D-CT contributed to the diagnosis of the specific fetal SD in the majority of these cases. 3D-CT may have a complementary role to US where fetal SD is suspected, but no specific diagnosis can be made using US alone. Further studies on clinical performance and risk-benefit analysis are needed.

PMID:
21212631
DOI:
10.1159/000322212
[Indexed for MEDLINE]
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