Survival and Surgical Interventions for Children With Trisomy 13 and 18

• Published in: JAMA : the journal of the American Medical Association 2016-07, Vol.316 (4), p.420-428
• Main Authors: Nelson, Katherine E, Rosella, Laura C, Mahant, Sanjay, Guttmann, Astrid
• Format: Article
• Language: English
• Subjects: Adolescent; Child; Child, Preschool; Children with disabilities; Chromosomes, Human, Pair 13; Chromosomes, Human, Pair 18; Databases, Factual; Developmental disabilities; Female; Humans; Infant; Infant, Newborn; Male; Ontario - epidemiology; Retrospective Studies; Surgery; Surgical Procedures, Operative - classification; Surgical Procedures, Operative - mortality; Survival Analysis; Trisomy; Young Adult
• ISSN: 0098-7484; 1538-3598
• DOI: 10.1001/jama.2016.9819

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. EXPOSURES: 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 [SD] birth weight, 2.5 [0.7] kg; 98 [56.3%] female); and 254 children with trisomy 18 (mean birth weight, 1.8 [0.7] kg; 157 [61.8%] female), with follow-up times of 0 to more than 7000 days. Median (interquartile range [IQR]) survival times were 12.5 (2-195) days for trisomy 13 and 9 (2-92) days for trisomy 18. One-year survival for trisomy 13 was 19.8% (95% CI, 14.2%-26.1%) and 12.6% (95% CI, 8.9%-17.1%) for trisomy 18. Ten-year survival for trisomy 13 was 12.9% (95% CI, 8.4%-18.5%) and 9.8% (95% CI, 6.4%-14.0%) for trisomy 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 age at first surgery for trisomy 13 was 92 (IQR, 30.5-384.5) days and for trisomy 18, it was 205.5 (IQR, 20.0-518.0) days. Kaplan-Meier curves showed 1-year survival after first surgery of 70.7% (95% CI, 54.3%-82.2%; n = 23) for trisomy 13 and 68.6% (95% CI, 50.5%-81.2%; n = 29) for trisomy 18. CONCLUSIONS AND RELEVANCE: Among children born with trisomy 13 or 18 in Ontario, early mortality was the most common outcome, but 10% to 13% survived for 10 years. Among children who underwent surgical interventions, 1-year survival was high.