Whole genome sequencing (WGS) using blood spot samples taken from a cohort of 112 babies who had died, discovered a genetic variant that has been linked to childhood mortality in 46 of the individuals sequenced.
Two thirds of birth certificates of babies who were discovered to have died with a genetic variant that could have cause their death, did not contain information about their genetic condition, researchers from University of California, San Diego have found.
Several of the deaths identified could have been avoided if genetic testing had been undertaken earlier, authors said in their paper published in the journal Pediatrics. This study supported the idea that the genetic causes of death in newborns are underestimated and some could be avoided with wider use of WGS, authors suggested.
