More Surgical Operations Now Performed in Children With Trisomy 13 and 18

MedicalResearch.com Interview with:
Dr. Katherine Nelson MD

Staff Paediatrician with the Paediatric Advanced Care Team
at SickKids and PhD student
University of Toronto

MedicalResearch.com: What is the background for this study?

Response: Trisomy 13 and 18 are rare genetic conditions that cause problems in multiple organ systems, including heart defects and severe neurologic impairment.  A majority of children with trisomy 13 and 18 die in the first days to weeks after birth, though a small number survive beyond one year.  For years, health care providers have debated the effectiveness and ethics of surgical interventions in these populations.

MedicalResearch.com:  What are the main findings?

Response: Our study evaluated all of the children with trisomy 13 and 18 born in Ontario between 1991 and 2012.  We found that a subgroup of children had much longer survival than has previously been described–10 to 13% of children lived for 10 years.  Early mortality was still the most common outcome, but among children living 6 months, over half lived 10 years. Fewer than 25% of the cohorts underwent surgery.  Among those who did, one-year post-operative survival was about 70%.

MedicalResearch.com: What should readers take away from your report?

Response: As in prior studies, the most likely outcome for children born with trisomy 13 or 18 is death in the neonatal period. However, the children who survive longer than a few months have a significant chance of long-term survival.  Surgical interventions were more common in our study than in prior population-based studies.  However, the fact that older and healthier children are better surgical candidates likely contributed substantially to the high post-operative survival rates.

MedicalResearch.com: What recommendations do you have for future research as a result of this study?

Response: This study identified a larger group of older children with trisomy 13 and 18, but we don’t yet know factors that predict long-term survival.  More research is also needed about quality of life in these populations and about the risks and potential benefits of surgery. 

MedicalResearch.com: Is there anything else you would like to add?

Response: Decision-making for children with trisomy 13 and 18 should be individualized, focused on the child’s best interest, and based on several factors, including the child’s clinical status, the family’s goals and values, as well as the genetic diagnosis. 

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Citation:

Note: Content is Not intended as medical advice. Please consult your health care provider regarding your specific medical condition and questions.

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