A Nemours study on osteogenesis imperfecta also known as OI or brittle bone disease shows the lethal tag given to the condition is not necessarily correct.
The study was of 18 infants with brittle bone disease at Nemours from September 2019 to August 2024.
Twelve of them were given lethal or possibly lethal diagnoses and four with less severe diagnoses. The severity diagnostic information wasn’t available for the remaining two.
All survived to hospital discharge, and 16 are alive today with minimal breathing or feeding support.
Nemours’ Dr. Ricki Carroll was the study’s lead author. She says doctors should be hesitant to give the diagnosis of lethal OI.
"We should be really hesitant to give the diagnosis of quote, unquote lethal oi, because we don't as a medical society, have really good tools or know really how to prognosticate on how an infant with oi is going to do long-term," said Carroll.
And Carroll says there is something that doctors can do.
"We should be offering life-sustaining interventions for these families,” said Carroll. “A lot of babies with oi can survive, and so for some families who want to try all life-sustaining interventions I think that's very reasonable, and I think that all families should be offered that as an option."
Carroll notes future research needs to think about how to better prognosticate OI, and see if there are any clearer or more accurate signs with babies in utero.
She also suggests additional prenatal imaging.
