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Ten-year survival of children with trisomy 13 or trisomy 18: a multi-registry European cohort study

Svetlana V Glinianaia1, Judith Rankin2, Joachim Tan3

  • 1Newcastle University Population Health Sciences Institute, Newcastle University, Newcastle upon Tyne, UK svetlana.glinianaia@ncl.ac.uk.

Archives of Disease in Childhood
|March 7, 2023
PubMed

Insights

Survival rates for children with trisomy 13 (T13) and trisomy 18 (T18) show that a significant portion, 32% and 21% respectively, can live to age 10 if they survive the first four weeks. These findings aid in counseling families after prenatal diagnosis.

Area of Science:

  • Genetics and Genomics
  • Pediatric Medicine
  • Public Health Surveillance

Background:

  • Trisomy 13 (T13) and Trisomy 18 (T18) are severe chromosomal abnormalities associated with high neonatal mortality.
  • Accurate survival data is crucial for parental counseling and clinical management.

Purpose of the Study:

  • To determine the long-term survival rates up to 10 years of age for children diagnosed with T13 or T18.
  • To provide updated survival estimates for clinical and familial guidance.

Main Methods:

  • A population-based cohort study utilizing linked mortality data from 13 European registries (EUROCAT network).
  • Inclusion of live births with T13 or T18, including translocations and mosaicisms, between 1995 and 2014.
  • Survival estimates calculated using random-effects meta-analyses of Kaplan-Meier survival data.

Main Results:

  • Estimated survival for T13: 34% at 4 weeks, 17% at 1 year, and 11% at 10 years.
  • Estimated survival for T18: 38% at 4 weeks, 13% at 1 year, and 8% at 10 years.
  • Conditional 10-year survival for those surviving to 4 weeks: 32% for T13 and 21% for T18.

Conclusions:

  • Despite high neonatal mortality, a substantial proportion of infants with T13 and T18 who survive the neonatal period can live to 10 years.
  • These survival estimates offer valuable information for genetic counseling following prenatal diagnosis of T13 or T18.
Abstract

Keywords:
Child HealthEpidemiologyGeneticsMortalitySyndrome

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