Genetic Diseases Associated With 41 Percent of Infant Deaths

Treatments that can improve outcomes were available for 30 percent of these genetic diseases
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Medically Reviewed By:
Mark Arredondo, M.D.

THURSDAY, March 2, 2023 (HealthDay News) -- Single-locus genetic diseases are the most common cause of infant mortality and are associated with 41 percent of deaths, according to a study published online Feb. 9 in JAMA Network Open.

Mallory J. Owen, M.B., Ch.B., from Rady Children's Institute for Genomic Medicine in San Diego, and colleagues examined the association of genetic diseases with infant mortality in a cohort study involving 546 infants (112 infant deaths and 434 infants with acute illness who survived) who underwent whole-genome sequencing (WGS).

The researchers found that single-locus genetic diseases were the most common identifiable cause of infant mortality among 112 infant deaths, with 47 diseases identified in 46 infants (41 percent). Of these diseases, 83 percent had been previously reported as being associated with childhood mortality. For 45 of the 46 infants, 28 death certificates (62 percent) did not mention a genetic etiology. For 14 of the genetic diseases (30 percent), treatments that can improve outcomes were available. Death could potentially have been avoided in five of seven infants in whom genetic diseases were identified postmortem if rapid, diagnostic WGS had been performed at the time of symptom onset or time of regional intensive care unit admission.

"At least 500 genetic diseases have effective treatments that can improve outcomes, and it seems that undiagnosed genetic diseases are a frequent cause of preventable deaths," a coauthor said in a statement. "Broad use of genomic sequencing during the first year of life could have much greater impact on infant mortality than was recognized hitherto."

Abstract/Full Text

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