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Changing clinical presentations and survival pattern in trisomy 18

Chien-Chou Hsiao1, Lon-Yen Tsao, Hsiao-Neng Chen

  • 1Department of Pediatrics, Children's Hospital, Changhua Christian Hospital, Taiwan. 68206@cch.org.tw

Pediatrics and Neonatology
|September 16, 2009
PubMed

Insights

Infants with trisomy 18 show changing survival patterns. While most die early, a small percentage survive over a year, necessitating careful parental counseling regarding this genetic disorder.

Area of Science:

  • Genetics
  • Pediatrics
  • Neonatology

Background:

  • Trisomy 18 (Edwards syndrome) presentations and survival are evolving.
  • Advances in prenatal diagnostics and neonatal care impact outcomes.

Purpose of the Study:

  • To analyze clinical features and survival duration in infants with trisomy 18.
  • To determine the prevalence rate of trisomy 18.

Main Methods:

  • Retrospective analysis of 31 trisomy 18 cases.
  • Data collection on survival, sex ratio, birth weight, and resuscitation status.
  • Prevalence calculation.

Main Results:

  • Prevalence estimated at 1/4,144.
  • Mean birth weight was 1896g; 35% were premature.
  • Median life expectancy was 12 days; 10% survived 6 months, 3-6% survived 1-3 years.
  • Significantly more females (90%) had do-not-resuscitate orders compared to males (50%).

Conclusions:

  • Trisomy 18 infants have lower birth weights and higher rates of do-not-resuscitate orders than previously reported.
  • Survival is not significantly different between sexes due to resuscitation differences.
  • The possibility of long-term survival warrants consideration in parental counseling.
Abstract

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