But even babies who look and act perfectly healthy could have a potentially life-threatening disorder. The chances are very slim, of course, but they exist. Metabolic disorders, blood disorders, and heart disorders often don’t exhibit symptoms until days or months after birth.
That’s why, almost 50 years ago, hospitals in the United States began screening newborns for rare, life-threatening disorders.
Why are we talking about this today? Because September is Newborn Screening Awareness Month.
What is Newborn Screening?
Newborn screening tests usually involve a “heel stick” — the baby’s heel is pricked, and drops of blood are smeared onto a card. These blood samples are taken shortly after birth, usually within 24-48 hours.
The screening is designed to detect genetic orders that are treatable, but that aren’t easy to uncover (because they don’t have many, or any, visible symptoms).
What Does Newborn Screening Detect?
In the early days of newborn screening, doctors screened for just a handful of disorders. Today, however, newborn screenings around the country (and around the world) screen for close to 30 diseases and disorders. Some U.S. states screen for as many as 50.
The disorders screened include:
- Metabolic disorders (these are disorders that destroy a baby’s ability to process and break down certain fats and proteins.)
- Blood disorders (like sickle-cell anemia)
- Other disorders (like cystic fibrosis, hypothyroidism, deafness, and heard defects).
Who Has Access to Newborn Screening?
In many countries around the world, everyone does. That’s the beauty of newborn screening — in many places, it’s a public health program, so it’s available to all babies. Costs for screenings are often very low, or even non-existent.
Newborn screening is considered so important that all 50 U.S. states require babies to be screened for around 30 disorders.
Newborn Screening is Still Evolving
This process of screening newborns for life-threatening illnesses is admirable. And if you’re like me, it makes you feel thankful your babies have access to this kind of preventative health care.
But the newborn screening process isn’t perfect. The program has been constantly evolving since it began 50 years ago. Over the years, more diseases have been added to the newborn screening tests, but there are still many that aren’t routinely screened.
The screening requirements also vary from state to state. There are a set of national standards (issued in 2010) that each state must follow, but the national standards require states to test for only 26 disorders. This is good, of course. But some states have gone above and beyond, and are screening newborns each day for close to 50 genetic disorders, while others screen for 30.
Baby Cora’s Story
This means there are some disorders that “fall through the cracks”. This was the case for parents Kristine and Ben McCormick. Their little girl Cora seemed perfectly healthy when they brought her home from the hospital, but at just 5 days old, Cora passed away.
The diagnosis? A congenital heart defect. At the time of Cora’s birth, no U.S. states routinely tested for heart defects, and many cases go untreated. However, since congenital heart defects are the single most common birth defect (affecting 1 in 125 babies), Kristine McCormick decided something had to be done.
She lobbied for pulse oximetry screening to become a required part of newborn screening. Pulse oximetry screening is a simple, non-invasive test that measures oxygen levels in a baby’s blood. And it’s effective; a recent study indicates that pulse oximetry detects 76.5% of congenital heart defects.
Today, two states (Indiana and New Jersey) require pulse oximetry screenings, and four more states will soon pass legislation to make it a requirement. And more and more parents, including those who live in states that don’t require it, are requesting pulse oximetry tests before they leave the hospital with their newborns.
There’s no way to know for certain if pulse oximetry would’ve saved baby Cora’s life, but experts are convinced that it will save other babies. And that’s good news for Kristine McCormick, who’s become a vocal advocate for newborn screening. She feels like advocating for more comprehensive, more effective newborn screening is a way to bring hope from Cora’s death.
“It’s a way for Cora to live on, too,” she says.
What have your experiences with newborn screenings been like?
For more information on what newborn screening is, and why it’s important, take some time to watch this video, called “One Foot At A Time”.