Intensive cardiac management in patients with trisomy 13 or trisomy 18

Abstract

KEYWORDS trisomy 13 • trisomy 18 • neonate • congenital heart defects • neonatal intensive care • cardiac surgery ABSTRACTIntensive cardiac management such as pharmacological intervention for ductal patency (indomethacin and/or mefenamic acid for closure and prostaglandin E1 for maintenance) and palliative or corrective surgery is a standard treatment for congenital heart defects. However, whether it would be a treatment option for children with trisomy 13 or trisomy 18 syndrome is controversial because the efficacy on survival in patients with these trisomies has not been evaluated. We retrospectively reviewed 31 consecutive neonates with trisomy 13 or trisomy 18 admitted to our neonatal ward within 6 hr of birth between 2000 and 2005. The institutional management policies differed during three distinct periods. In the first period, both pharmacological ductal intervention and cardiac surgery were withheld. In the second, pharmacological ductal intervention was offered as an option, but cardiac surgery was withheld. Both strategies were available during the third period. The median survival times of 13, 9, and 9 neonates from the first, second, and third periods were 7, 24, and 243 days, respectively. Univariate and multivariate analyses confirmed that the patients in the third period survived significantly longer than the others. Intensive cardiac management consisting of pharmacological intervention for ductal patency and cardiac surgery was demonstrated to improve survival in patients with trisomy 13 or trisomy 18 in this series. Therefore, we suggest that this approach is a treatment option for cardiac lesions associated with these trisomies. These data are helpful for clinicians and families to consider in the optimal treatment of patients with these trisomies.

The role of a pediatric ethics committee in the newborn intensive care unit

“…The cardiologist reported that cardiac surgery has been carried out on some children with Trisomy 13, and data suggest that life expectancy can sometimes be extended, which seemed to make sense. 19,20 However, as consistently aggressive care is relatively new and not widespread, it remains unclear what the life expectancy under such circumstances would be. Mortality data were thus understood to be generally grim but uncertain, and the discussion turned to predicted morbidity.…”

Erring on the Side of Life: Children with Rare Trisomy Conditions, Medical Interventions and Quality of Life

“…The authors do not recommend caesarean sections or surgery in the immediate postnatal period for newborns with t18. This is in the face of multiple reports such as those from Japan of children living past the age of one year with positive surgical outcomes [17][18][19]. In addition, at the present time, there is very little literature on developmental outcomes [20,21].…”

Lethality begets lethality

“…9 The authors cite other references reporting on prolonged survival rates for infants with aneuploidies, but dismiss them as 'small case series' and not employing 'contemporary comparison groups receiving lesser amounts of treatment.' 10,11 One reports on 24 patients with Trisomy 18 receiving intensive care with a 25% survival rate at 1 year. 10 Another describes survival rates after cardiac surgery, for Trisomy 13 and 18 infants, of 44% at 1 year, with median survival rates of 243 days.…”

“…10 Another describes survival rates after cardiac surgery, for Trisomy 13 and 18 infants, of 44% at 1 year, with median survival rates of 243 days. 11 There are other references not cited that further substantiate that Trisomy 13 and 18 are not lethal. Bruns 12 reported on 21 cases of Trisomy 18 surviving to a mean age of 6 years.…”