US research shows that whole-genome sequencing (WGS) can prevent infant deaths from treatable genetic diseases.
WGS linked genetic abnormalities to a single site in 4 out of 10 infants who died at a major children’s hospital in California over a 5-year period.
But more than half of deaths have no genetic cause, according to researchers at JAMA Open
Most importantly, they found that treatments that could help improve outcomes were available for nearly a third of the genetic disorders identified.
Mallory Owen of Rady Children’s Hospital in San Diego and colleagues suggest that “the rapid use of diagnostic WGS in the neonatal genomics research health system may be associated with reduced infant mortality.” newborns in the United States.”
Neonatal mortality remains high in the United States, with an approximate rate of 1 in 200 live births, and birth defects and chromosomal abnormalities account for one in five deaths.
Genome sequencing has identified abnormalities at one site as a major cause of death in certain types, such as sudden infant death syndrome (SIDS), but the overall association with the infant mortality rate is still not well defined.
To investigate further, the researchers reviewed 311 medical records of 940 infants (0.39% live births) who died in the San Diego County Children’s Hospital System between 2015 and 2020. .
Of these, 112 underwent WGS as a rapid diagnostic test for inpatient (59.8%) or at slaughter with stored dried blood samples (50.2%).
WGS identified 47 anomalies at one site in 46 infant deaths (41%).
Of the 47 identified genetic abnormalities, 39 (83%) were previously reported to be associated with infant mortality and 14 (30%) received treatment that improved outcomes.
The team noted that 28 out of 45 of the 46 infants (62%) had no genetic cause listed on the death certificate.
Five out of seven infants with postmortem genetic abnormalities will die if a rapid genome-wide diagnosis is made at the time of symptom onset or admission to a regional intensive care unit.
Of the 21 maternal and neonatal characteristics examined, five known risk factors for infant mortality differed significantly between the 46 infant deaths associated with any usually inherited and 66 infants had no genetic abnormalities.
Preterm birth, placental abruption, and maternal infections are more common in stillbirths without genetic disorders, while polyhydramnios—excess of amniotic fluid around the baby during pregnancy—more common in fatal cases related to genetic disorders.
“Whole-genome sequencing has significantly changed the causes of the four leading causes of infant mortality (birth defects/chromosomal abnormalities, sudden infant death syndrome, sepsis and respiratory disorders) and ‘all other causes’, together accounting for 71%,” the authors wrote. Written. note.
“We recommend that molecular causes be included in the national important statistics for the top four causes of infant mortality.
“This could prioritize research and public health programs to address child mortality.”
