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Updated: Oct 23, 2025

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Published on: February 5, 2021
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.
Abstract:
Trisomy 18 (T18) is one of the most commonly diagnosed aneuploidies leading to poor survival outcome. However, little is known about the dual risk of T18 and very low birth weight (VLBW, weighing <1500 g at birth). We aimed to investigate the survival and clinical features of VLBW infants with T18. In this observational cohort study, infants with T18 admitted to the neonatal intensive care unit in Kyushu University Hospital from 2000 to 2019 were eligible. Among 30 infants with T18 who were enrolled as study participants, 11 (37%) were born with VLBW. VLBW infants had lower gestational age (34.4 vs. 39.4 weeks, p < 0.01) and a higher incidence of esophageal atresia (64% vs. 11%, p < 0.01) than non-VLBW infants. The proportions of patients who underwent any surgery (55% vs. 5%, p < 0.01) and positive pressure ventilation (82% vs. 32%, p = 0.02) were higher in VLBW than non-VLBW infants. One-year overall survival rate (45% vs. 26%, p = 0.32 by log-rank test) did not differ between the two groups. In conclusion, being born at VLBW may not be fatal for infants with T18 undergoing active interventions.
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