Perinatology.  2020 Sep;31(3):129-136. 10.14734/PN.2020.31.3.129.

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

• Oh MY
• Lee BS
• Cha T
• Jeong J
• Jung E
• Kim EAR
• Kim KS
• Lee BH
• Yoo HW

• KMID: 2507498
• DOI: http://doi.org/10.14734/PN.2020.31.3.129

Abstract

Objective
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. Mean while, 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 ge nerally 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.

Keyword

Trisomy 18; Surgical interventions; Survival; Prognosis