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J Pediatr. 2012 Jun;160(6):978-83. doi: 10.1016/j.jpeds.2011.12.006. Epub 2012 Jan 11.

Cancer in children with nonchromosomal birth defects.

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  • 1Department of Neurology, Stanford University, Palo Alto, CA, USA.



To examine whether the incidence of childhood cancer is elevated in children with birth defects but no chromosomal anomalies.


We examined cancer risk in a population-based cohort of children with and without major birth defects born between 1988 and 2004, by linking data from the California Birth Defects Monitoring Program, the California Cancer Registry, and birth certificates. Cox proportional hazards models generated hazard ratios (HRs) and 95% CIs based on person-years at risk. We compared the risk of childhood cancer in infants born with and without specific types of birth defects, excluding infants with chromosomal anomalies.


Of the 4869 children in the birth cohort with cancer, 222 had a major birth defect. Although the expected elevation in cancer risk was observed in children with chromosomal birth defects (HR, 12.44; 95% CI, 10.10-15.32), especially for the leukemias (HR, 28.99; 95% CI, 23.07-36.42), children with nonchromosomal birth defects also had an increased risk of cancer (HR, 1.58; 95% CI, 1.33-1.87), but instead for brain tumors, lymphomas, neuroblastoma, and germ cell tumors.


Children with nonchromosomal birth defects are at increased risk for solid tumors, but not leukemias. Dysregulation of early human development likely plays an important role in the etiology of childhood cancer.

Copyright © 2012 Mosby, Inc. All rights reserved.

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