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New research is looking into the role of genetic diseases in infant deaths. Vladimir Nenov / EyeEm / Getty Images
  • Researchers are reporting that genetic diseases are responsible for more infant deaths than previously thought.
  • They note that the findings can help open up new avenues for diagnosing and treating life-threatening illnesses in young children.
  • Other research projects looking into infant mortality are getting underway.

Genetic diseases contribute more to infant death than previously thought, according to a study published today in the journal JAMA Network Open.

Researchers say, however, that the findings can open new avenues for identifying and treating life-threatening illnesses in the youngest children.

The study was done by researchers at the Rady Children’s Institute for Genomic Medicine (RCIGM) in San Diego. The researchers looked at more than 500 infants with acute illnesses (of which 114 died)

They reported that more than four in 10 cases of infant death could be traced back to “single locus” genetic diseases (meaning the gene or genetic marker is in a fixed place on a chromosome).

The researchers noted that in 30% of these cases, therapies already exist that could improve infant outcomes and reduce the chance of future death.

“Our knowledge of the causes of infant mortality has historically been limited because it relies upon data from death certificates, which are often inaccurate or incomplete,” said Dr. Nina Gold, a pediatrician, medical geneticist, and medical biochemical geneticist at Mass General for Children in Boston.

“Many of the leading causes of infant death are, in some ways, related to genetic conditions,” she told Healthline. “The exact proportion of infant death related to genetic disease has been difficult to estimate because the application of genetic testing in the infant period and post-mortem is not universal nor equitable.”

These findings represent a new and promising avenue for future research and treatment and are a sign of where medicine is headed in general, added Karen Edwards, Ph.D., a professor of epidemiology and biostatistics at the University of California Irvine Program in Public Health.

“Genetic variation is important for a variety of conditions and clearly contributes to health and disease,” she told Healthline. “This is a very active area of research. Right now, the focus is on using genetic variation to predict the risk of disease in adults and identify those who are at increased risk to either monitor their health and/or intervene. As the field develops, I would expect this to apply to children and infants.”

That’s precisely what RCIGM researchers are recommending.

“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,” Dr. Stephen Kingsmore, the president and chief executive officer of RCIGM, said in a press release. “Broad use of genomic sequencing during the first year of life could have a much greater impact on infant mortality than was recognized hitherto.”

“This is an extraordinarily revealing study,” added Dr. Adrian Florens, a neonatologist at KIDZ Medical and director of the Neonatal Transport Team at St. Mary’s Medical Center in West Palm Beach, Florida.

“When an infant dies unexpectedly, it has devastating consequences for their families. We are entering an era that could potentially prevent such tragic events,” Florens told Healthline.

Many aspects of infant mortality have long been difficult to discern with the tools doctors have had available, but new tests and screenings have begun to shed light on these issues – and offer hope to parents.

For instance, researchers reported last year that babies who died from Sudden Infant Death Syndrome (SIDS) had elevated levels of a biomarker not present in infants who didn’t die from SIDS.

For this study, the RCIGM team used their custom tool to conduct whole genome sequencing that can identify 500 known genetic diseases and is available for hospitals and doctors.

There are now more screenings that can offer new opportunities to drive down infant mortality further.

One research initiative in England is in the midst of a two-year pilot project to genetically test 100,000 babies to understand the real-world efficacy of comprehensive genetic testing on both infant mortality and other newborn health outcomes.

“The high proportion of infant deaths related to monogenic variants highlights that rare disorders are major drivers of early childhood health,” Gold said. “Given that many of these diagnoses have management guidelines, these findings also suggest that expanded newborn screening programs could facilitate the identification of and direct the initial steps in care for affected children.”