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Differences in mortality and morbidity according to gestational ages and birth weights in infants with trisomy 18

Ken Imai1, Atsushi Uchiyama1, Tomoka Okamura1

  • 1Department of Neonatology, Maternal and Perinatal Center, Tokyo Women's Medical University, Tokyo, Japan.

American Journal of Medical Genetics. Part A
|August 27, 2015
PubMed

Insights

Gestational age significantly impacts survival in infants with trisomy 18, with preterm infants having no survival to discharge. Shorter gestational age, more than low birth weight, negatively affects outcomes for these infants.

Area of Science:

  • Neonatal Medicine
  • Genetics
  • Pediatric Cardiology

Background:

  • Trisomy 18 (Edwards syndrome) is a severe chromosomal disorder associated with high infant mortality.
  • Understanding factors influencing survival in trisomy 18 is crucial for clinical management and parental counseling.
  • Gestational age and birth weight are known determinants of neonatal outcomes, but their specific impact in trisomy 18 requires further clarification.

Purpose of the Study:

  • To investigate the independent effects of gestational age and birth weight on the survival of infants diagnosed with trisomy 18.
  • To compare clinical characteristics and management strategies between term and preterm infants with trisomy 18.
  • To identify critical factors predicting survival to discharge in this vulnerable population.

Main Methods:

  • Retrospective review of medical records for 36 infants with trisomy 18 admitted between 1991 and 2012.
  • Comparison of clinical data between term (gestational age ≥37 weeks) and preterm (gestational age <37 weeks) infants.
  • Analysis of outcomes, including survival to discharge, and causes of mortality, stratified by gestational age and birth weight categories (very-low-birth-weight vs. non-VLBW).

Main Results:

  • None of the 21 preterm infants survived to discharge, compared to 29% (6/21) of term infants (P < 0.05).
  • Very-low-birth-weight (VLBW) status was more prevalent in preterm infants (80%) than term infants (5%).
  • Multiple logistic regression indicated that shorter gestational age was a stronger negative predictor of survival to discharge than lower birth weight in trisomy 18 infants.

Conclusions:

  • Gestational age is a more critical determinant of survival to discharge in infants with trisomy 18 than birth weight.
  • Preterm birth is associated with a significantly poorer prognosis, with no survivors to discharge in this cohort.
  • Respiratory failure or apnea were common causes of early mortality (<30 days), while heart failure was more prevalent in later deaths among survivors.

Keywords:
mortalitypretermprognosistrisomy 18very-low-birth-weight infant

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