September 12, 2016

Newborn ScreeningNewborn Screening 101: History and Key Facts

In the hours immediately following birth, new parents face what may seem like an endless stream of doctors, nurses, consultants, and other medical professionals who are there to ensure the child’s health and well-being. Amidst the chaos, wonder, and magic of the post-delivery days, new parents will meet a few medical professionals who will perform life-saving newborn screenings.

To understand why these simple screenings matter so much, it’s important to look at the history of newborn screenings, what babies are being tested for, and what the procedures are. With a fuller understanding, it’s easy to see that there is almost no reason to avoid newborn screenings.

The History of Newborn Screenings

In the early 1960s, Robert Guthrie, MD, PhD began developing a test that would change the landscape of newborn care forever. In a paper published in 1963, Dr. Guthrie outlined a method for testing newborns for phenylketonuria (PKU), a rare genetic disorder that can cause developmental disabilities if treatment is not administered early.

The development of this test was a celebratory moment in the history of infant medicine. Babies with PKU often have no symptoms until it’s too late. With the development of this test, parents and medical providers can be aware of the disease within the first few days of life, and a special diet can be given to the child to stop PKU’s effects.

What Do These Screenings Look For?

Dr. Guthrie’s method opened the doors to screen for many other diseases. Today, newborns can be screened for 60 serious conditions, although not all conditions are screened for in each state. Almost all states’ screenings include 29 core conditions, and some states add additional tests.

You can find which conditions are screened for in your state here.

Newborn Screening Procedures

While it may be overwhelming to think of a small baby being tested for so many conditions, there is no reason to panic. Newborn screenings consist of three minor, mostly painless tests.

  • The Blood Draw/Heel Stick – a medical professional will briefly stick the baby’s heel with a small needle to draw blood. The blood is then smeared on a card and sent for testing. This may cause some brief discomfort, but rest assured that it will heal quickly and without scarring.
  • Pulse Oximetry Test – You may hear the nurses call this “pulse ox.” This non-invasive, painless test measures how much oxygen is in the baby’s blood. Medical professionals place a painless sensor on the baby’s skin, and the pulse oximeter machine reads the results. It should only take a few short minutes.
  • Hearing Screen – Two different tests may be used to measure the baby’s hearing abilities. Your provider may use the Otoacoustic Emissions (OAE) test or the Auditory Brain Stem Response (ABR) test. Both are painless, non-invasive, safe, and efficient.

Of the 4 million children tested in the United States each year, about 4,000 infants are diagnosed as a result of the screenings. While that may be a small number, newborn screenings mean the world to those 4,000 children and their families.