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Related Experiment Videos

Survival in trisomy 18

S Root1, J C Carey

  • 1Department of Pediatrics, University of Utah Health Sciences Center, Salt Lake City 84112.

American Journal of Medical Genetics
|January 15, 1994
PubMed
Summary
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Trisomy 18 (Edwards syndrome) survival rates are shorter than previously reported, with a median survival of 4 days. However, Utah data shows higher 6-month and 1-year survival compared to recent studies.

Area of Science:

  • Genetics
  • Pediatrics
  • Prenatal Diagnosis

Background:

  • Prenatal diagnosis of trisomy 18 is common, necessitating accurate prognostic information for families.
  • Recent studies indicate significantly shorter survival for trisomy 18 than previously documented.
  • Understanding current survival trends is vital for informed decision-making regarding delivery management.

Purpose of the Study:

  • To investigate trisomy 18 survival rates.
  • To compare current survival data with historical and recent findings.
  • To provide updated prognostic information for trisomy 18.

Main Methods:

  • Analysis of chromosome laboratory records for trisomy 18 diagnoses in Utah (1979-1988).
  • Utilized death certificates and hospital records to determine survival outcomes.

Related Experiment Videos

  • Calculated prevalence, median survival, and survival rates at 1 week, 6 months, and 1 year.
  • Main Results:

    • Identified 64 liveborn cases of trisomy 18, with a prevalence of 1/6071.
    • Median survival was 4 days; 45% survived 1 week, aligning with recent studies.
    • Utah data showed higher survival at 6 months (9%) and 1 year (5%) compared to other recent studies (3% and 0%, respectively).

    Conclusions:

    • Trisomy 18 survival appears shorter than in earlier reports, likely influenced by earlier diagnosis.
    • While short-term survival aligns with recent data, Utah's long-term survival rates at 6 months and 1 year are notably higher.
    • Discrepancies in long-term survival may be attributed to variations in diagnostic timing and potentially small study numbers.