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Certain Major Birth Defects Associated With Moderately Increased Cancer Risk in Children

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Key Points

  • Cancer risk was increased in children born with eye defects, cleft palate, some heart and kidney defects, and microcephaly. Children with Down syndrome had 14-fold increased cancer risk.
  • Cancer risk was not increased with many common birth defects, including hypospadias, cleft lip, or hydrocephalus.
  • Researchers found that the incidence of cancer was highest in the first 3 to 5 years of life, so clinical surveillance can be focused by age as well as by birth defect.

A multistate study led by researchers at the University of Utah has revealed that the risk for childhood cancer is moderately increased among children and young adolescents with certain types of major birth defects. Children born with nonchromosomal birth defects have a two-fold higher risk of cancer before age 15, compared to children born without birth defects, according to the study published recently in PLOS ONE. However, cancer risk varies by the specific type of birth defect, and is not significantly increased in many of the more common birth defects.

An estimated 3% of children in the United States (approximately 120,000) are born with major birth defects each year. In many countries, including the United States, birth defects are the leading cause of infant death and a major contributor to disability and pediatric hospitalizations. Birth defects are an increasing health concern worldwide and, in 2010, the World Health Organization identified birth defect prevention and care as a global priority.

“There is a large body of evidence for increased cancer risk in children with Down syndrome, a genetic birth defect caused by the presence of an extra copy of chromosome 21,” said Lorenzo Botto, MD, Professor of Pediatrics at the University of Utah School of Medicine and first author on the study. “However, studies to date have provided inconsistent findings on cancer risk in children with structural birth defects that are not caused by chromosome abnormalities.”

Study Details

In this study, Dr. Botto and colleagues analyzed information from birth defect and cancer surveillance programs in Utah, Arizona, and Iowa and observed that cancer risk was increased in children born with eye defects, cleft palate, some heart and kidney defects, and microcephaly. The types of cancer for which risk was increased included neuroblastoma, retinoblastoma, and hepatoblastoma, all cancers that arise from immature cells and typically develop in early childhood.

The scientists also observed that cancer risk was 14 times higher among children with Down syndrome, mainly due to lymphoid and myeloid leukemia. However, cancer risk was not increased with many common birth defects, including cleft lip, hydrocephalus, and hypospadias.

Overall Cancer Risk Still Relatively Low

“While there is an increased risk for cancer in young people with certain types of birth defects compared to children without birth defects, the overall cancer risk for a child with a birth defect is still relatively low, so it is important for health-care providers to be careful not to produce unnecessary concern among parents and families,” said Dr. Botto. “In addition, we found that the incidence of cancer was highest in the first 3 to 5 years of life, so clinical surveillance can be focused by age, as well as by birth defect.”

“It’s reassuring that many of the common major birth defects are not associated with any increase in cancer risk,” said Dr. Botto. “Our study helps to identify who is, and who is not, at increased risk for cancer, and this information can be used to focus future research on potential genetic or environmental factors that contribute to cancer risk.”

The study was funded by the U.S. Centers for Disease Control and Prevention.

The content in this post has not been reviewed by the American Society of Clinical Oncology, Inc. (ASCO®) and does not necessarily reflect the ideas and opinions of ASCO®.


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