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

Eiko Kato1, Yuma Kitase2, Takashi Tachibana3

  • 1Department of Pediatrics, Tosei General Hospital, Aichi, Japan.

American Journal of Medical Genetics. Part A
|April 4, 2019
PubMed

Insights

Infants with trisomy 18 (T18) have improved survival rates with intensive care. Key factors for survival discharge include avoiding extremely low birth weight and specific congenital anomalies, alongside cardiovascular surgery.

Area of Science:

  • Pediatrics
  • Genetics
  • Neonatology

Background:

  • Infants with trisomy 18 (T18) historically faced a poor prognosis.
  • Advances in intensive care have significantly improved outcomes for T18 patients.

Purpose of the Study:

  • To investigate the current status of T18 patients.
  • To identify factors associated with survival discharge.
  • To survey home healthcare practices for T18 survivors.

Main Methods:

  • Retrospective analysis of 113 T18 infants admitted between 2000 and 2015 across nine institutions.
  • Comparison of maternal, perinatal, neonatal, and therapeutic factors between survival and death discharge groups.
  • Survey of home healthcare, readmissions, respite care, and causes of death in survivors.

Main Results:

  • 44% of T18 infants survived at discharge, with a 1-year survival rate of 29%.
  • Survival discharge was linked to longer gestation, larger size, and longer survival time.
  • Independent predictors of survival discharge included absence of extremely low birth weight infant (ELBWI), absence of esophageal atresia and patent ductus arteriosus, and undergoing cardiovascular surgery.
  • All survivors required home healthcare; respiratory disorders were the most common cause of death.

Conclusions:

  • Intensive care has diversified the prognosis for T18 infants.
  • Absence of ELBWI, specific congenital anomalies, and cardiovascular surgery are critical for survival discharge.
  • Comprehensive home healthcare is essential for T18 survivors.
  • Discussions on treatment strategies should involve neonatologists and pediatric surgeons, considering factors like gestation, birth weight, and cardiovascular disease severity.

Keywords:
cardiovascular surgeryextremely low birthweight infanthome healthcarenoninvasiveprenatal genetic testtrisomy 18

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