Research from Thomas Jefferson University of Philadelphia is laying the foundation for a genetic test to accurately identify hip dysplasia in newborns so that early intervention can be initiated to promote normal development.
This research from Jefferson orthopedics physician-scientists is currently available in the Journal of Bone and Mineralizing Research.
The researchers studied four generations of a Utah family affected by developmental dysplasia of the hip (DDH) in most generations.
One in 1,000 newborns is affected by DDH. Its grossest forms are easily detected at birth, though mild cases often go undetected and are the leading cause of premature degeneration of the hip joint among 20-40 year olds — accounting for 40 percent of such cases.
“If we can detect DDH susceptibility earlier, we can employ non-invasive therapies to allow the hip socket to fully develop in newborns,” says Dr. George Feldman, assistant professor of orthopaedics at Thomas Jefferson University and lead investigator on the study.
A large, 72-member, four-generation Utah family affected by DDH in most generations was approached by Jefferson and their colleagues at the University of Utah to participate.
DNA analysis showed a mutation co-inherited by all affected family members. Even some of those who had fewer signs of the disease were also found to have the disease variant.
While this study shows a significant genetic risk factor shared by family members, it is not yet clear how this translates to the rest of the affected DDH population.