Factors related to survival discharge in trisomy 18: A retrospective multicenter study

Am J Med Genet A. 2019 Jul;179(7):1253-1259. doi: 10.1002/ajmg.a.61146. Epub 2019 Apr 3.

Abstract

Infants with trisomy 18 (T18) previously had a poor prognosis; however, the intensive care of these patients has markedly diversified the prognosis. We investigated the current situation of patients with T18, clarified factors for survival discharge, and surveyed actual home healthcare. A total of 117 patients with T18 admitted to nine institutions between 2000 and 2015 were retrospectively investigated. After excluding four patients whose outcomes were unclear, we divided 113 patients into two groups-the survival discharge group (n = 52) and the death discharge group (n = 61)-and compared maternal factors, perinatal factors, neonatal factors, and therapeutic factors between the groups. In addition, home healthcare, readmission, utilization of respite care and home nursing, and cause of death among the survival group were surveyed. Fifty-two (44%) patients with T18 survived at discharge and their 1-year survival rate was 29%. The survival group had a longer gestation period, larger physique, and longer survival time, compared to the death group. Independent factors associated with survival discharge were the absence of an extremely low birthweight infant (ELBWI), the absence of esophageal atresia and patent ductus arteriosus, and cardiovascular surgery. All surviving patients required some home healthcare. The most frequent cause of death was a respiratory disorder. We recommend discussing the treatment strategy with families in the presence of neonatologists or pediatric surgeons, who can explain differences in prognosis, based on the gestation period, birthweight, severity of cardiovascular disease, and cardiovascular surgery.

Keywords: cardiovascular surgery; extremely low birthweight infant; home healthcare; noninvasive; prenatal genetic test; trisomy 18.

Publication types

  • Multicenter Study

MeSH terms

  • Adult
  • Birth Weight
  • Cardiovascular Diseases / complications
  • Cardiovascular Diseases / diagnosis*
  • Cardiovascular Diseases / mortality
  • Cardiovascular Diseases / surgery
  • Female
  • Gestational Age*
  • Home Care Services
  • Home Nursing / methods
  • Humans
  • Infant
  • Infant Mortality / trends
  • Infant, Newborn
  • Male
  • Patient Discharge / trends*
  • Pregnancy
  • Prognosis
  • Retrospective Studies
  • Survival Analysis
  • Trisomy 18 Syndrome / complications
  • Trisomy 18 Syndrome / diagnosis*
  • Trisomy 18 Syndrome / mortality
  • Trisomy 18 Syndrome / surgery