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Survival and surgical interventions for children with trisomy 13 and 18

Nelson KE, Rosella LC, Mahant S, Guttmann A. JAMA. 2016; 316(4):420-8. Epub 2016 Jul 26.

Importance — Trisomy 13 and 18 are genetic diagnoses with characteristic physical features, organ anomalies, and neurodevelopmental disability. Most children with these disorders die shortly after birth, although limited data suggest some children survive longer. Surgeries are controversial, and little evidence is available about outcomes.

Objective — To describe survival and utilization of any type of surgery among children with trisomy 13 and 18 born over a 21-year period in Ontario, Canada.

Design, Setting and Participants — This retrospective cohort study used linked health administrative databases to identify children born in Ontario between April 1, 1991, and March 31, 2012, with a diagnosis code for trisomy 13 or 18 on a hospital record in the first year of life. Survival was calculated from birth and death dates; children living on March 31, 2013, were censored at their last clinical encounter.

Exposure — All procedures classified as occurring in an operating room through March 31, 2013, were categorized as “major,” “intermediate” or “minor” surgeries.

Main Outcomes and Measures — Survival and surgical procedure utilization.

Results — The cohorts included 174 children with trisomy 13 [mean birth weight 2.5 kg [SD=0.7]; 98 (56.3%) female]; and 254 children with trisomy 18 [mean birth weight 1.8 kg [SD=0.7]; 157 (61.8%) female], with follow-up times of 0 to >7000 days. Median survival times were 12.5 days (IQR: 2-195) and 9 days (IQR: 2-92), 1-year survival 19.8% (95% CI: 14.2-26.1) and 12.6% (95% CI: 8.9-17.1), and 10-year survival 12.9% (95% CI: 8.4-18.5) and 9.8% (95% CI: 6.4-14.0) for children with trisomy 13 and 18. Survival did not change over the study period. Forty-one children (23.6%) with trisomy 13 and 35 children (13.8%) with trisomy 18 underwent surgeries, ranging from myringotomy to complex cardiac repair. Median ages at first surgery were 92 (IQR: 30.5-384.5) and 205.5 days (IQR: 20.0-518.0). Kaplan-Meier curves showed 1-year survival after first surgery of 70.7% (95% CI: 54.3-82.2%, n=23) and 68.6% (95% CI: 50.5-81.2%, n=29) for children with trisomy 13 and 18, respectively.

Conclusions and Relevance — Among children born with trisomy 13 or 18 in Ontario, early mortality was the most common outcome, but 10-13% survived for 10 years. Among children who underwent surgical interventions, 1-year survival was high.

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Keywords: Genetic diseases Pediatric health