Newborn Screening celebrates 50 years of protecting lives

A simple screening, performed on every newborn in Massachusetts, can detect hidden disorders

By Tom Lyons

UMass Medical School

September 28, 2012

For 50 years, the New England Newborn Screening Program has been giving peace of mind to parents and doctors by providing answers about the health of newborns in their first days of life. Operated by UMass Medical School’s Commonwealth Medicine division, the tests performed by the Newborn Screening Program can help prevent serious unforeseen medical and developmental disabilities. In some cases, the tests save lives.

“The vast majority of babies are born healthy, but there are some who have serious medical problems that we can treat if we are able to detect those conditions early,” said Roger Eaton, PhD, , associate professor of pediatrics and director of the New England Newborn Screening Program. “Detection, prevention and treatment—that is what this program is all about. The work we do would not be possible without the partnership of parents, doctors, other health care providers and hospitals.”

Simple screening, complex tests, profound results

Screening involves a simple procedure performed on every child born in Massachusetts, usually done within 24 to 48 hours of a baby’s birth. A trained hospital staff member fills out a newborn screening card and collects a few drops of blood by pricking a newborn’s heel. The sample is collected on a special filter paper, attached to the screening card and sent to the Newborn Screening Lab for analysis. From there, the small blood spots go through a series of highly technical and specialized tests that look as if they are from the set of CSI—all with the purpose of detecting hidden disorders that could threaten the health and life of the newborn.

“The Newborn Screening Program is a vital public health program that serves every child born in the Commonwealth,” said Dr. Lauren Smith, medical director for the Massachusetts Department of Public Health (DPH), which sets policy for newborn screening in the state. “Ensuring the best possible start for a child should be our number one goal, and by detecting potentially devastating, but treatable disorders early we are doing just that. We are proud to partner with the Medical School on this important work.”

As science has progressed, so has newborn screening

In the earliest days of newborn screening dating back to 1962, the New England Newborn Screening Program, then part of DPH, pioneered the use of a screening test for a treatable disorder known as phenylketonuria, more commonly referred to as PKU. Left untreated, PKU can cause serious developmental disabilities. However, if detected early the damage can be prevented or limited by changing the child’s diet.

From that single test, the number of screenings the DPH requires for treatable disorders has grown to about 30 today. In addition, there are a number of optional tests available that parents can request for their child. The Newborn Screening Program tests for the most serious conditions first. In the event of a test result out of the normal range, staff follows up with the newborn’s health care provider and family so any necessary action can be taken.

Several hundred to 2,000 screening samples come into the lab daily, delivered from hospitals throughout Massachusetts and beyond. Because of its expertise, the Newborn Screening Program also performs lab testing services for New Hampshire, Maine, Vermont, Rhode Island and Pennsylvania.

See Commonwealth Medicine's video on the Newborn Screening Program here.

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