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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
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.
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