A validated model for prediction of survival to 6 months in patients with trisomy 13 and 18

Abstract

Congenital heart disease is exceedingly prevalent in trisomy 13 and 18. Improved survival following congenital heart surgery has been reported, however, mortality remains significantly elevated. Utilizing inpatient data on trisomy 13 and 18 from the 2003–2016 Pediatric Health Information System database, a survival model was developed and validated using data from the California Perinatal Quality Care Collaborative and the California Office of Statewide Health Planning and Development. The study cohort included 1,761 infants with trisomy 13 and 18. Two models predicting survival to 6 months of age were developed and tested. The initial model performed excellently, with a c‐statistic of 0.87 and a c‐statistic of 0.76 in the validation cohort. After excluding procedures performed on the day of death, the revised model's c‐statistic was 0.76. Certain variables, including cardiac surgery, gastrostomy, parenteral nutrition, and mechanical ventilation, are predictive of survival to 6 months of age. This study presents a model, which potentially can inform decision‐making regarding congenital heart surgery.

Perinatal Outcomes of Fetuses and Infants Diagnosed with Trisomy 13 or Trisomy 18

“…In their study, certain variables, including cardiac surgery, gastrostomy, parenteral nutrition, and mechanical ventilation, are predictive of survival to 6 months of age. 48 This is consistent with data from our study. It appears that an individual approach is necessary in determining which patients could potentially benefit from invasive interventions, such as cardiac surgery.…”

Treatment courses and outcomes of oesophageal atresia in patients with trisomy 18: a case series of 271 patients from a nationwide database in Japan

“…In this study, the incidence of oesophageal atresia among patients with trisomy 18 (16%) was higher than that reported in previous studies (7%–8%) 2 10. The prevalence of cardiac, respiratory, nervous anomalies and abdominal wall defects was compatible with that reported previously, that is, 45%–89%, 5%, 8%–21% and 4%–6%, respectively 2 10 18. However, there might be an underestimation of comorbidities in all studies because some physicians may avoid further examination to diagnose anomalies for palliative intention.…”

Perinatal Outcomes of Fetuses and Infants Diagnosed with Trisomy 13 or Trisomy 18

“…[41][42][43] Consistent with data from our study, a model shows certain variables, including cardiac surgery, gastrostomy, parenteral nutrition, and mechanical ventilation, are predictive of survival to 6 months of age. 44 An individual approach is necessary in determining which patients could potentially benefit from invasive interventions and discussing these options with families. 45 The expected neurodevelopmental outcomes, level of functioning, and degree of interaction that families have with their children are important factors that must be considered.…”