Surgical Interventions and Clinical Outcomes of Patients with Trisomy 18: a Single Center Experience

Abstract

The purpose of this study was to investigate the impact of surgical interventions on the survival rate of the trisomy 18 and to provide the clinical information of the developmental status of the neonatal intensive care unit (NICU) survivors. Methods: We retrospectively reviewed the medical records of the patients who were confirmed genetically as trisomy 18 in a tertiary hospital. Patients were divided into those who were treated with active surgical interventions and those who were not (the control group). Data on mortality and longterm developmental outcomes were obtained and compared between the study groups. Results: A total of 24 patients were included. All of them had major congenital anomalies with a 100% prevalence of congenital heart diseases. The overall survival rate was 75%, and 35% at one month, and one year of age, and the median survival time was 170 days. The one-year survival rate of the group of active surgical intervention (n=14) was 56% with a median survival of 398 days. Meanwhile, none in the control group (n=7) survived for more than three months. The NICU survivors were unable to stand up even after two years of age. Their cognitive and social developmental stages generally consistent with those under six months of age. Conclusions: Despite the potential survival benefits of active surgical intervention, NICU survivors with trisomy 18 had severe developmental delays. To guide early decision-making for newborns with trisomy 18, further research is needed regarding the quality of life of trisomy 18 survivors and their families.

Survival of children with trisomy 18 associated with the presence of congenital heart disease and intervention in the Republic of Korea

“…However, it was observed that procedures in Korea were relatively performed in the early life stages. Two single referral center studies conducted in Korea reported an increasing proportion of children with T18 receiving active treatment after birth [ 17 , 18 ]. In one study, positive pressure ventilation and intubation were performed in 79.2% and 54.2% of children with T18, respectively [ 17 ].…”

“…Two single referral center studies conducted in Korea reported an increasing proportion of children with T18 receiving active treatment after birth [ 17 , 18 ]. In one study, positive pressure ventilation and intubation were performed in 79.2% and 54.2% of children with T18, respectively [ 17 ]. Furthermore, another study reported that 77.2% were intubated, higher than those in previous studies [ 18 ].…”

“…Furthermore, another study reported that 77.2% were intubated, higher than those in previous studies [ 18 ]. Several studies, including the aforementioned Korean single-center studies, have discovered that active intervention in children with T18 increased survival [ 17 – 21 ]. Parents who decide to give birth despite the high rate of abortion in Korea may prefer active interventions for their affected infant.…”