How Children's Hospitals Prevent and Treat Birth Defects

Every four and a half minutes, a child is born with a condition that affects their body’s structure or function. Medically speaking, these conditions are called “birth defects” since they develop before birth.

These conditions vary widely in kind and severity, from cleft lips to heart abnormalities to brain and spine issues. Some result in death soon after birth; they are the leading cause of infant deaths, accounting for 20% of all infant deaths. Many require lifelong coordinated care.

Children’s hospitals play vital roles in not only coordinating care for children with congenital conditions but also supporting research efforts to advance preventive treatments and performing remarkable interventions that allow children to thrive.

Research and surveillance

The causes of most birth defects are unknown. Children’s hospitals conduct and support research to help discover the causes and develop preventive solutions.

For example, Children’s Hospital of Philadelphia’s biorepository provides genetic data for large study populations that includes detailed clinical history and long-term follow up. This kind of data is crucial to making strides in our understanding of birth defects and has traditionally been unavailable to researchers.

Pediatricians affiliated with children’s hospitals lead research and serve as centers for the CDC’s National Birth Defects Prevention Study (NBDPS), one of the largest U.S. studies that looks at risks and potential causes of birth defects.

Many children’s hospitals also participate in surveillance programs that provide essential data on nationwide efforts to prevent birth defects. Arkansas Reproductive Health Monitoring System (ARHMS), administered within Arkansas Children's Hospital, tracks birth defect trends and provides data infrastructure for scientific research.

Innovative interventions

Because birth defects develop during gestation, treating them early may require highly complex fetal surgery in the womb. These innovative procedures can prevent significant disabilities and, in some cases, even cure the condition before the child is born.

Children’s hospitals have highly trained, specialized surgeons capable of performing procedures on fetuses that may be no bigger than an avocado. They continually create new surgical methods using groundbreaking scientific developments like molecular interventions, minuscule devices, and 3D printing.

The results of in-utero surgeries are simply astonishing. Children with once-fatal heart conditions now thrive into adulthood. Those who would have been paralyzed or have significant mobility limitations now walk. Others who would have life-limiting lung impairments or early death live normal lives.

Coordinated long-term treatment

Many children living with congenital conditions require care from a variety of specialists and depend on an array of services, sometimes for their entire lifetime. For instance, a child with spina bifida needs to be followed by a neurosurgeon, urologist, orthopedic surgeon, developmental pediatrician or physiatrist, a colorectal surgeon, and possibly others. These children may also need to see physical and occupational therapists, orthotic providers, social workers, dietitians, early childhood specialists, and others who can help them thrive.

When these services are provided at multiple locations, care can be fragmented, resulting in increased burdens on families and poor outcomes for patients. Children’s hospitals coordinate a patient’s care across these specialties in one place to ensure all providers and caregivers are on the same page and patients require fewer trips, some of whom live hours away.

Although we’ve come a long way in birth defect prevention, millions still live with congenital conditions every year. We support efforts to advance prevention research and look forward to a new horizon of unprecedented treatments and technologies spurred on by our children’s hospitals.