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Cancer risk in children and adolescents with birth defects: a population-based cohort study

Lorenzo D Botto1, Timothy Flood, Julian Little

  • 1Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA. Lorenzo.botto@hsc.utah.edu

Plos One
|July 23, 2013
PubMed

Insights

Children with certain major birth defects face a higher risk of childhood cancer. This risk varies significantly depending on the specific defect, highlighting the need for targeted clinical evaluation and research.

Area of Science:

  • Pediatric Oncology
  • Birth Defect Research
  • Epidemiology

Background:

  • Birth defects are a growing global health concern, recognized by the World Health Assembly.
  • Previous research on cancer risk in children with birth defects yielded inconsistent results.
  • Understanding this association is crucial for vulnerable pediatric populations.

Purpose of the Study:

  • To assess the risk of childhood cancer in children and young adolescents with major birth defects.
  • To identify specific types of birth defects associated with increased cancer risk.
  • To inform clinical evaluation, counseling, and future research.

Main Methods:

  • A retrospective, population-based cohort study was conducted across three US states.
  • Compared a cohort of 44,151 children with major birth defects to 147,940 children without birth defects.
  • Analyzed cancer incidence rates prior to age 15, stratified by birth defect type.

Main Results:

  • Children with major birth defects had a 2.9-fold increased risk of cancer compared to controls.
  • Cancer incidence was 33.8 per 100,000 person-years in the birth defect cohort versus 11.7 in the reference cohort.
  • Increased cancer risk was associated with microcephaly, cleft palate, and certain eye, cardiac, and renal defects, but not hypospadias or hydrocephalus.

Conclusions:

  • Specific structural, non-chromosomal birth defects are linked to a moderately elevated risk of childhood cancer.
  • Not all birth defects confer an increased cancer risk.
  • Identifying selective risks can enhance clinical management and research efforts for affected children.
Abstract

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