UMass Medical's Newborn Screening Program can prevent unforeseen issues


Oct. 1, 2012
WORCESTER – Any parent will tell you; there are few more joyous occasions in life than the birth of a child. After months of preparation and expectation, a successful birth usually means putting prenatal worries in the rearview mirror and signals the start of a future filled with hopes, dreams and possibilities.

For 50 years, the New England Newborn Screening Program has been giving parents and doctors peace of mind by providing answers about the health of newborns in their first days of life. Operated by the University of Massachusetts 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," Roger Eaton, PhD, director of the New England Newborn Screening Program, said. "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 within 24 and 48 hours of birth. A trained hospital staff member fills out a newborn screening card and collects a few drops of blood from a newborn's heel. The sample is collected on a special filter paper, attached to the screening card and sent to the Newborn Screening Program for analysis. From there, the small blood spots go through a series of highly technical and specialized tests that look as if they were pulled 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 in daily, delivered from hospitals throughout Massachusetts and several other states. Because of its expertise, the Newborn Screening Program also performs testing services for Maine, New Hampshire, Rhode Island, Vermont and beyond.

The four things every parent should know about newborn screening:

• Discuss newborn screening with your prenatal health care provider.

• Serious health and developmental problems can be prevented if certain disorders are detected early.

• Visit the Newborn Screening Program's website to get more information on the program.

• Screening is important because most newborns look healthy at birth, even babies who have conditions that can be detected through newborn screening.




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