Survival outcomes of very low birth weight infants with trisomy 18

Hirosuke Inoue1,2, Yuka Matsunaga1,2, Toru Sawano1,2

  • 1Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.

Insights

Trisomy 18 (T18) infants born with very low birth weight (VLBW) had higher rates of esophageal atresia and surgery. However, VLBW did not significantly impact one-year survival rates for T18 infants receiving active interventions.

Area of Science:

  • Genetics
  • Neonatalogy
  • Pediatric Surgery

Background:

  • Trisomy 18 (T18) is a common aneuploidy associated with poor survival.
  • The combined risk of T18 and very low birth weight (VLBW) is not well understood.
  • VLBW is defined as a birth weight less than 1500 grams.

Purpose of the Study:

  • To investigate the survival and clinical features of infants with Trisomy 18 and very low birth weight.
  • To compare outcomes between VLBW and non-VLBW infants with T18.

Main Methods:

  • Observational cohort study of infants with T18 admitted to Kyushu University Hospital (2000-2019).
  • Data collected on gestational age, birth weight, clinical features, interventions, and survival.
  • Comparison of clinical characteristics and survival rates between VLBW and non-VLBW T18 infants.

Main Results:

  • Of 30 T18 infants, 11 (37%) were VLBW.
  • VLBW infants had lower gestational age (34.4 vs. 39.4 weeks) and higher incidence of esophageal atresia (64% vs. 11%).
  • VLBW infants underwent more surgeries (55% vs. 5%) and positive pressure ventilation (82% vs. 32%).
  • One-year survival rates did not differ significantly (45% vs. 26%).

Conclusions:

  • Very low birth weight may not be a fatal factor for Trisomy 18 infants who receive active medical and surgical interventions.
  • Active management strategies can improve outcomes for VLBW infants with T18.
  • Further research is needed to optimize care for this vulnerable population.

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