Prenatal diagnosis of achondroplasia and hypochondroplasia using three-dimensional computed tomography: a case series at a single institution.

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

SUBMITTER: Waratani M 

PROVIDER: S-EPMC11651972 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature