An overview of Massachusetts Newborn Screening

August 08, 2014

How one drop of her blood changed Madeleine M. Stout’s life was chronicled in an overview of the Massachusetts Newborn Screening Program published in the Mount Holyoke College Alumnae Quarterly. UMass Medical School has operated the program on behalf of the state Department of Public Health since 1997.

“One has to always be aware that each one of these little blood spots is a baby,” former director of the New England Newborn Screening Program, Marvin Mitchell, MD, said in the Summer 2014 edition of the Quarterly.

Dr. Mitchell was director of the program when it tested a blood droplet collected from Stout’s heel within days of her birth. Lab testing would reveal the now 23-year-old Mount Holyoke College alum has an endocrine disorder. Had it not been caught early, the disorder could have caused severe brain damage and physical impairments.

“We don’t get to see the live baby in the lab,” Mitchell said to the Quarterly when explaining why it was so special to meet Stout in person last year. “So here, suddenly appearing in front of us, was this mature young girl, articulate, lovely, bright, and you say to yourself, ‘Oh my Lord,’ I looked at her lab values, and she would have been brain damaged if her blood spot hadn’t gone through our laboratory. . . . Now here she is. Just the personification of a young woman you would love to have as your daughter. You can’t help but be thrilled; it’s marvelous.”

Mitchell met Stout and her mother, Michelle A. Graveline, in person for the first time on Dec. 9, 2013, when the 50-year anniversary of newborn screening in Massachusetts was celebrated with a ceremony at the State House. A proclamation from Gov. Deval L. Patrick declared Dec. 9-15 Newborn Screening Awareness Week in Massachusetts.

A laboratory on UMass Medical School’s Jamaica Plain campus performs metabolic and genetic screening for nearly every one of the approximately 75,000 babies born in Massachusetts annually. In addition to Massachusetts, UMass Medical School also runs screening programs in the states of Maine, New Hampshire, Rhode Island and Vermont.

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