ArticleQuantitative imaging in medicine and surgery2024
Prenatal diagnosis of achondroplasia and hypochondroplasia using three-dimensional computed tomography: a case series at a single institution.
Article in Quantitative imaging in medicine and surgery, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: Fetal skeletal dysplasia (FSD) is a group of systemic bone and cartilage disorders that develop prenatally and can be detected using fetal ultrasonography. However, it is unsuitable for skeletal analysis because it is reflected by supersonic waves in the bone cortex. Three-dimensional computed tomography (3D-CT) is a suitable alternative and has improved the differential diagnosis of FSD during pregnancy. Achondroplasia (ACH) and hypochondroplasia (HCH) are the most frequent diseases in the FSD group. This study aimed to determine the efficacy of 3D-CT in the prenatal diagnosis of ACH/HCH. Case Description: Patients were selected for the study non-consecutively. Pregnant women who met the following selection criteria were included: (I) pregnancy at age ≥20 years at the time of consent; (II) fetal ultrasonography showing a short femur (below the 10 Conclusions: 3D-CT is a valuable and efficient tool for diagnosing ACH/HCH. Accurate prenatal diagnosis by gene analysis is crucial for a definitive diagnosis in infants.
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