September 22, 2015

September is Newborn Screening Awareness Month. 

Newborn baby sleepingMost babies are born healthy. But even babies who look and act perfectly healthy could have a potentially life-threatening condition. Newborn screening allows health professionals to identify and treat certain conditions before they can make a baby sick. When identified at birth and treated early, most babies with these conditions are able to grow up healthy with normal development.

In the early days of newborn screening, doctors screened for only a handful of disorders. Today, however, newborn screenings screen for close to 30 diseases and disorders and some states screen for as many as 50.

The screening is designed to detect genetic disorders that are treatable, but that aren’t easy to uncover. The disorders screened include:

  • Metabolic 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 heart defects.

A newborn screening involves three parts — a “heel stick” to collect a small blood sample, pulse oximetry to look at the amount of oxygen in the baby’s blood, and a hearing screen. 

Because certain conditions may go undetected if the blood sample is drawn before 24 hours of age, the timing of the screening is very important. The blood test is generally performed when a baby is 24 to 48 hours old. A newborn screening is not a diagnostic test and does not necessarily confirm a baby has a condition. It identifies who may have the condition so that definitive follow-up testing can be offered to determine if the condition is truly present. If a positive screen is detected, parents will be notified immediately and follow-up testing will be done.

By law, every baby born in the United States is required to have a newborn screening prior to leaving the hospital. Sadly, each year over 5,000 babies are born with one of the conditions included in the newborn screening panels and while most of these infants appear perfectly healthy and come from families with no history, once symptoms appear, they are often irreversible, leading to health and developmental problems. 

Newborn screening began in the 1960s when scientist Robert Guthrie, MD, PhD, developed a blood test that could detect whether newborns had the metabolic disorder –phenylketonuria (also known as PKU). Over the years, scientists have developed more tests to screen newborns for a variety of severe conditions, and screening tests are currently available for more than 60 disorders.

If you are expectant parents, you’re encouraged to find out all you can about newborn screening and what to expect at the hospital.