The Cribsiders S6 Ep126: Understanding the Extra Chromosome: Trisomy 21
Nov 20, 2024
Dr. Hannah Keppler, a pediatrician in the Bronx and co-director of the Family Weight Management Program, shares her expertise on managing patients with Down Syndrome. She discusses the multidisciplinary approach needed for initial evaluations of newborns with Trisomy 21. Listeners will learn about vital screening tests, the misconception around routine X-rays for atlantoaxial instability, and the importance of early interventions. The conversation also touches on addressing racial inequalities in healthcare access for children with developmental delays.
AI Snips
Chapters
Transcript
Episode notes
Trisomy 21 Overview
- Trisomy 21 involves an extra copy of chromosome 21 and affects multiple organs with broad symptoms.
- Its impact varies widely from profound impairment to independent living among individuals.
Prenatal Testing for Trisomy 21
- Use non-invasive prenatal testing (NIPT) early in pregnancy to screen for trisomy 21.
- Confirm positive results with diagnostic tests like amniocentesis or chorionic villus sampling.
Neonatal Exam Findings
- Look for hypotonia, distinctive facial features, and extremity anomalies during initial neonatal exam.
- Evaluate red reflex to detect cataracts common in newborns with Down syndrome.