Radiology findings of Down syndrome: a literature review

• Published in: Chinese journal of academic radiology 2023-12, Vol.6 (4), p.133-142
• Main Authors: Wibisono, Jacobus Jeno, Faustina, Carissa, Wibisono, Maria Georgina, Leman, Jeanne, Sutanto, Ratna
• Format: Article
• Language: English
• Subjects: Imaging; Medicine; Medicine & Public Health; Radiology; Review
• ISSN: 2520-8985; 2520-8993
• DOI: 10.1007/s42058-023-00126-9

Trisomy 21, commonly known as Down syndrome (DS), stands as the most prevalent genetic source of intellectual disability worldwide. Individuals with Down syndrome may experience a range of abnormalities affecting multiple organ systems. The distinctive facial features and musculoskeletal characteristics evident at birth often make the diagnosis apparent if it has not been established during pregnancy. Depending on the severity of specific findings, children with Down syndrome may undergo radiological assessments at various stages of their development. The cardiovascular system, the digestive system, the facial look, the morphology of hearing aids, and the central nervous system can all be impacted by Down syndrome. An early diagnosis, especially during prenatal care, allows for better planning and preparation for the child's birth. Therefore, it is essential to have a comprehensive understanding of the radiological characteristics associated with Down syndrome patients. In conclusion, Down syndrome is associated with various radiological features. Indicators of Down syndrome can include the presence of atrioventricular septal abnormalities, tetralogy of Fallot, macroglossia, esophageal atresia, microcephaly, and structural alterations in the musculoskeletal system. During fetal imaging, it is important to assess the volume of amniotic fluid, particularly in the context of nuchal translucency, as well as determine the presence or absence of nasal bones in the fetus.