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For decades, the rare genetic disorder osteogenesis imperfecta (OI) has been categorized on a spectrum from mild to lethal. However, new research conducted by physicians at Nemours Children’s Health suggests that many babies prenatally diagnosed with “lethal” OI may survive and benefit from ongoing medical advancements.
The study, published in JBMR Plus, challenges conventional prognostic assessments of OI and highlights the importance of medical intervention in improving survival and quality of life.
Understanding Osteogenesis Imperfecta
OI, commonly referred to as “brittle bone disease,” occurs in approximately 1 in 15,000 to 20,000 births. This disorder is characterized by fragile bones, frequent fractures, and in severe cases, significant respiratory complications that can be fatal.
Dr. Ricki S. Carroll, a physician specializing in Skeletal Dysplasia and Palliative Care at Nemours Children’s Hospital, Delaware, explained that mild cases of OI are typically diagnosed during childhood after multiple fractures. However, severe cases are often detected in utero via ultrasound when unusual bone measurements or fractures are observed. These extreme cases are frequently classified as “lethal.”
“Parents receiving this prenatal diagnosis are often counseled that their child’s condition is incompatible with life and may be advised against life-sustaining interventions at birth,” Dr. Carroll noted.
New Findings on Survival Rates
Dr. Carroll and her colleagues examined the cases of 18 infants with OI treated at the Nemours NICU between September 2019 and August 2024. Twelve of these infants had been prenatally diagnosed with “lethal” or “possibly lethal” OI. Remarkably, all 18 survived until hospital discharge, and 16 remain alive today with minimal respiratory or feeding support.
The study found that standard prenatal prognostic criteria, such as chest-to-abdomen and femur length-to-abdomen ratios, may not reliably predict OI severity. These measurements can be skewed due to in-utero fractures or the characteristic bowed legs associated with the disorder.
The Importance of Medical Interventions
Dr. Carroll emphasized that infants diagnosed with OI should be delivered in advanced medical settings prepared for life-sustaining interventions. Most newborns require respiratory support and pain management for fractures sustained before or during birth. Specialized nursing care is crucial to minimize movement and allow bones to heal. Additionally, medications like bisphosphonates may be prescribed to strengthen bones.
The 18 infants in the study experienced a range of medical challenges and interventions. Two infants passed away due to respiratory complications at 7 and 13 months of age. Among the survivors:
- Seven required respiratory support upon discharge.
- Nine needed feeding assistance.
- Most were weaned off medical support within 18 months.
- Five underwent orthopedic procedures such as realignment or rodding.
- Of the eight children aged two and older, one walks unaided, one walks with support, and others have achieved varying degrees of mobility.
A Case of Hope: Koa’s Story
In February 2024, Viana Kelly of Jersey City, New Jersey, gave birth to her son, Koa, who had been prenatally diagnosed with lethal OI. Initially scheduled for hospice care, Kelly sought alternative treatment options and transferred Koa to Nemours Children’s Hospital when he was just 11 days old. After nearly two months of specialized care, he was discharged and recently celebrated his first birthday.
“I saw progress in him every day,” Kelly said. “There was a time when I thought, ‘This is where it ends.’ But with time and with the care he received in the NICU at Nemours, he is doing really well.”
Redefining Prognosis and Future Research
Dr. Carroll and her colleagues advocate for reclassifying OI cases from “lethal” to “mild, moderate, or severe,” emphasizing that prenatal testing may not provide a complete picture of the disease’s severity.
“Our findings demonstrate that it is difficult to accurately predict lethality in utero. We believe all infants diagnosed with OI should be offered medical intervention as an option,” said Dr. Mahim Jain, Medical Director of Orthogenetics at Nemours Children’s Health.
Future research will explore comprehensive care strategies for infants with OI, from birth through early development. Given the disease’s rarity and the limited number of physicians experienced in treating severe cases at birth, researchers aim to publish further studies and share findings to improve global treatment protocols.
Disclaimer:
This article is for informational purposes only and does not constitute medical advice. Families facing an osteogenesis imperfecta diagnosis should consult with qualified healthcare professionals to discuss available treatment options and the best course of action for their child.
