A unicentric study with the genetic material of 112 children who died before the end of the first year of life found that the most common detectable cause of death was single-locus gene disease. In 30% of cases, there would have been therapies that would have had a positive effect on the course of the disease. However, this realization came too late for several of the children, as their genomes were only sequenced postmortem.
Background
Understanding the causes of child mortality influences both screening and surveillance interventions and investment in research.However, the authors of the current study write, the connection between specific genetic diseases and child mortality is poorly understood.
Design
Retrospective analysis of complete genome analyses performed between at Rady Children’s Hospital in San Diego, California, in 546 infants (maximum 1 year). 112 of these children had died, 67 before genome sequencing, and 45 after.
Results
- So-called single-locus gene diseases were the most common detectable cause of children’s deaths.
- There were 47 such genetic defects in 46 children (41% of all deceased)
- Of 39 of the 47 genetic defects, they were previously known to be associated with infant mortality.
- For the 45 children whose death certificates were evaluated, 28 (62%) did not mention a genetic cause of death.
- In 14 cases (30%) there were treatments that are known to have a positive effect on the course of genetic diseases.
- In 5 out of 7 children whose genetic diseases were only detected postmortem, death could have been prevented, according to the researchers, if rapid and complete genome sequencing had already taken place at the onset of symptoms.
Clinical significance
The data from a single center allow at most a rough estimate of the incidence of genetic defects that could be detectable and treatable by complete genome sequencing in infants.However, the researchers assure that these cases are more common than previously thought. Strategies to expand neonatal genetic diagnostics and implement their results immediately could therefore reduce child mortality.
Funding: Ernest and Evelyn Rady, Rady Children’s Hospital, J. Willard and Alice S. Marriott Foundation, and research funding from the National Institutes of Health.
This full text is unfortunately reserved for medical professionals
You have reached the maximum number of articles for unregistered visitors
Source – https://www.univadis.de/viewarticle/kindersterblichkeit-durch-genetische-ursachen-offenbar-2023a100057p