BMJ Best Practice Podcast Down syndrome
Jun 24, 2025
Kishore Vellody, a Professor of Pediatrics at the University of Pittsburgh, sheds light on Down's syndrome, the most common genetic cause of intellectual disability. He discusses the importance of high-quality healthcare and the advancements in prenatal screening that enable earlier diagnoses. Vellody delves into the complexities of managing Down syndrome, highlighting the need for specialized care and genetic counseling. He also addresses cognitive decline in affected individuals and emphasizes compassionate communication with families during diagnosis.
AI Snips
Chapters
Transcript
Episode notes
Basic Genetic Cause Explained
- Down syndrome results from an extra chromosome 21, mostly from one parent donating an additional copy.
- This condition is also known as trisomy 21 and leads to intellectual disability.
Diagnosis Recommendations
- Suspect Down syndrome from physical signs and confirm with chromosome karyotype testing.
- Prenatal non-invasive screening and diagnostic tests enhance early detection accuracy.
Confirm Diagnosis with Karyotype
- Always confirm Down syndrome diagnosis with full karyotype, not just FISH testing.
- Karyotyping identifies translocation types critical for genetic counseling and family planning.