Birth Defects Have a Lifelong Impact for Physicians, PAs, and their Patients

Every 4-1/2 minutes in the U.S., a baby is born with a birth defect.

Birth defects affect 1 in 33 babies in the U.S. each year. That means about 120,000 babies born every year have a defect that affects how their body looks or works, or both. Those defects can range from mild to severe and can be fatal. Birth defects cause 20 percent of all infant deaths.

While some birth defects can be corrected in utero or in infancy, many birth defects have a lifelong impact for patients and physicians — who will treat patients with birth defects not only during pregnancy and childhood but throughout adolescence and into adulthood.

This month, during National Birth Defects Awareness Month, we will provide you with information about birth defect prevention and considerations for lifelong care.

Birth Defect Prevention

Unfortunately, not all birth defects can be prevented, but risks can be mitigated. Evidence points to many factors that cause them, from genetics and the environment to behaviors, medications, medical conditions, and maternal age.

Having one or more of these risk factors may result in a birth defect, or it may not. There’s no exact formula — or fail-safe. That’s why it’s important for physicians and PAs to work closely with patients who are or may become pregnant to help them understand how to lower their risks. Though most birth defects occur in the first 3 months of a baby’s development, they can occur later, so prevention efforts are important throughout pregnancy.

Three prevention strategies to advise patients include:

1. Be cognizant about what you’re putting in your body. Pregnant women should avoid smoking, drinking alcohol, and using marijuana and illegal drugs, as well as taking certain prescription and OTC medications and some dietary and herbal supplements.

2. Communicate with your physician to monitor and manage your overall health, not just your pregnancy. Close management of medical conditions like diabetes, infections like the Zika virus, and medical situations like a high fever are critical, as all can contribute to increased risk for birth defects.

3. Learn as much as you can about your medical history. For patients with personal or family histories of birth defects, which includes the baby’s father, genetic counseling is also an option to understand and evaluate risks.

For more prevention strategies, visit The American College of Obstetricians and Gynecologists’ FAQ page on “Reducing Risks of Birth Defects” or the Centers for Disease Control and Prevention’s web page titled “Commit to Healthy Choices to Help Prevent Birth Defects.”

Lifelong Care of Patients with Birth Defects

Infants and children with birth defects often require specialized treatment and care, especially those with physical and intellectual disabilities. Early recognition and early intervention and supports are integral to their health, well-being, and quality of life as they grow up.

But what happens next?

To help physicians and PAs understand how best to help your patients with birth defects throughout their lives, here’s a list of challenges they may experience as adults and as they transition from adolescence to adulthood:

• Navigating changes in insurance providers and coverage
• Switching from familiar, trusted pediatric specialists to new specialists who treat adults
• Adapting to new lifestyle situations related to increased independence, like becoming responsible for managing their own care and skill development required to effectively address their daily needs
• Mental health issues resulting from managing their condition, treatments, transitions, and other circumstances
• Requirement of additional surgeries, medications, or other procedures to maintain or improve health
• Increased health risk factors related to their birth defect, like an increased risk of cancer later in life
• New or ongoing health complications related to their birth defect, like heart defect patients who may develop trouble breathing
• Loss of family relationships and support on which they depend, such as the death of a parent
• Developing new social relationships, including dating and marriage
• Entering the workplace, which may require new skill development and managing needs for adaptation
• Exposure to discrimination
• Planning for parenthood, including understanding risks to their own health as well as to their baby
• Planning for long-term care as their healthcare needs may evolve and change over time

Birth defects have a lifelong impact on patients. With increased awareness and focus, physicians and PAs can help empower their patients with birth defects to live healthier, longer, happier lives.