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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.
01:00:20
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Quick takeaways
- Initial newborn evaluations for trisomy 21 should focus on identifying physical features, feeding difficulties, and congenital anomalies for comprehensive care planning.
- Genetic screening, including non-invasive testing and counseling, is crucial for early diagnosis and understanding the complexities of trisomy 21 for families.
Deep dives
Importance of Initial Evaluation for Trisomy 21
The initial evaluation of newborns diagnosed with trisomy 21, also known as Down syndrome, focuses on several key factors. Health care professionals should look for specific physical features associated with the condition, such as hypotonia, distinct facial characteristics, and signs of congenital heart defects. An early examination can also uncover potential feeding difficulties and other anomalies that may necessitate specialized care. Thoroughly assessing these criteria lays the groundwork for ongoing medical management and support.
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