P2.P317: Surgical Outcomes in Trisomy 13 and 18

Background: Management of patients with Trisomy 13 (T13) and Trisomy 18 (T18) has historically focused on comfort care. However, recent literature suggests an increase in potentially life-sustaining interventions. This multicenter study of T13/T18 patients aims to 1) describe current general surgical management and 2) quantify in-hospital mortality.

Methods: Data were prospectively collected from 377 U.S. NICUs in the Vermont Oxford Network. Infants were included if they were born at the member NICU between 2011 and 2022 with a diagnosis of Trisomy 13 or Trisomy 18. Rates of pediatric general surgical operations were quantified. Cardiac, neurosurgical and orthopedic operations were excluded. The primary outcome was in-hospital mortality.

Results: Overall, 3,018 infants were included, 972 with T13 and 2,046 with T18. A general surgery operation was performed for 100 (14.4%) T13 patients and 218 (13.5%) T18 patients. The most common operation was a gastrostomy or jejunostomy tube placement (T13 8.4%, T18 10.1%), with mortality rates of 24.1% in T13 and 30.6% in T18. Congenital diaphragmatic hernia was diagnosed in 19 (2%) T13 and 78 (3.8%) T18 patients. Of these, 1 (5.2%) T13 and 7 (14.3%) T18 patients underwent repair with a mortality of 100% and 28.6% respectively. Esophageal atresia and/or tracheoesophageal fistula (EA/TEF) was diagnosed in 2 (0.2%) T13 and 177 (8.7%) T18 patients. Of these, none of the T13 patients underwent EA/TEF repair while 45 (26.9%) T18 patients underwent EA/TEF repair with a mortality rate of 57.8%. Omphalocele was diagnosed in 82 (8.4%) T13 and 149 (7.3%) T18 patients. Of these, 17 (27%) T13 patients and 16 (17.47%) T18 patients underwent omphalocele closure with a mortality of 82.4% and 37.5% respectively. Rates of overall in-hospital mortality were 67.8% for T13 and 61.6% for T18. Mortality rates for those who received general surgical operations were 38.4% for T13 and 37.5% for T18.

Conclusion: Over a ten year period, general surgical operations were performed in less than 15% of infants with Trisomy 13 or 18. This selected group still had an in-hospital mortality rate approaching 40% for both Trisomy 13 and Trisomy 18. Further data are needed to assess whether surgical interventions facilitated discharge to home, increased length of survival or improved quality of life.