Newborn Screening: Public Health Stories

Matt Oster

Guest Researcher at CDC

Pediatric Cardiologist at Sibley Heart Center, Children's Healthcare of Atlanta Emory University

 

Photo above: Matt Oster’s father, Don Oster, Jr., holding his younger sister, Lynda Jean.

 

When I started medical school more than a decade ago, I wasn’t sure what kind of doctor I wanted to be. Then I had my class in cardiology, and I was hooked. I knew that I wanted to work with kids and their heart problems for my career.

 

But then I thought, do kids really have heart problems? I never knew any child with a heart problem. Would there be enough opportunities for me to pursue this as a career? Nevertheless, it was what I wanted to do. When I went home for Christmas that year, I was excited to tell my family that I finally knew what kind of doctor I wanted to be. When I told my family that I envisioned myself as a pediatric cardiologist, my grandmother told me, “You know, your Aunt Lynda Jean was born with a heart problem.” My Aunt Lynda Jean? My Dad had four brothers and one sister, and her name wasn’t Lynda Jean. “Yes,” she said, “she had a hole in her heart and her arteries were switched.” My grandmother just described the defect known as transposition of the great arteries. I later learned that Aunt Lynda Jean was born in 1960 with a congenital heart defect. She was diagnosed with the condition at just a few months of age, and she only lived to be about 10 months old. In the era in which she was born, there were no options for treatment. Were she born today, she would have surgery as a newborn and then be expected to live to adulthood.

 

Congenital heart defects are the most common type of birth defect. Thanks to the work of CDC and others, we know that nearly 1% of children born in the United States will have a congenital heart defect. In fact, there are nearly 40,000 children born in the United States with congenital heart defects each year. Of those nearly 40,000 children, well over 1,000 will not live to see their first birthday, making congenital heart defects an important cause of infant mortality.

 

While we have made great strides in treatment for these children, all the treatment in the world might not be sufficient if we don’t diagnose the problem early enough. Moreover, even for those children who survive with congenital heart defects, long term disability remain an important concern. Newborn screening gives us the opportunity to make a significant impact. Newborn screening for critical congenital heart defects (CCHD) can identify some infants with a CCHD before they show signs of disease. Once identified, babies with a CCHD can be seen by cardiologists and can receive specialized care and treatment that can prevent disability and death early in life. However, it’s important to remember that while newborn screening for CCHD will detect some children and save lives, some will still be missed. It’s not a perfect test. Doctors need to remember that, if they see a newborn in their office whose signs and symptoms would have made them worry about a heart defect in the era before CCHD screening, then they should still consider that possibility.

 

Learn more about newborn screening:

www.cdc.gov/features/ScreeningNewborns/ www.cdc.gov/spanish/especialesCDC/PruebasRecienNacidos/

www.cdc.gov/ncbddd/pediatricgenetics/newborn_screening.html

www.cdc.gov/ncbddd/pediatricgenetics/CCHDscreening.html

www.cdc.gov/labstandards/nsqap.html

www.cdc.gov/ncbddd/hearingloss/index.html

www.cdc.gov/features/sicklecelldisease/

 

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