A Case of Short-Rib Thoracic Dysplasia: Diagnostic Clues in Early Pregnancy and Genetic Analysis.

To investigate the diagnostic clues and genetic etiology of short-rib thoracic dysplasia (SRTD) in early pregnancy, we report a case of a fetus suspected of having SRTD based on ultrasound findings at 13 weeks of gestation. Prenatal genetic testing revealed a pathogenic variant in the DYNC2H1 gene, and post-abortion examination of the specimen along with X-ray findings confirmed the diagnosis as short-rib thoracic dysplasia 3 (SRTD3; OMIM #613091). Such cases are rarely reported in the early gestational period. The detection and subsequent confirmation in this case at 13 weeks demonstrate that the combination of early ultrasound screening and genetic testing can enable early detection and diagnosis of SRTD. This approach provides a basis for precise prenatal assessment and holds significant clinical importance for reducing birth defects.