Newborn Screening Services

In babies born with serious but asymptomatic conditions, early detection can enable lifesaving early intervention. Our newborn screening program collects and tests specimens, analyzes results, and recommends follow-up care—so all babies can receive the right medical care in a timely manner.

What Challenges You

The outcomes for children impacted by serious conditions such as phenylketonuria, cystic fibrosis, and spinal muscular atrophy can be improved if the silent condition is detected in a blood sample collected 24-48 hours after birth.

Healthcare providers need to make the best, most timely care decisions for newborns—but do not have the capacity to perform a broad panel of laboratory tests, determine which screening panels are needed, or have the expertise to fully interpret a laboratory’s results.

Why Choose Us

We’re pioneers in the field of population-based newborn screening. For 60 years, we’ve led its clinical application, unleashing its potential as a tool to inform and enhance pediatric care. As a part of UMass Chan Medical School, our team of experienced faculty-member scientists and researchers remains at the forefront of medical innovation. We bring extensive clinical knowledge and research expertise to explore how newborn screening can evolve to identify even more conditions and improve laboratory processes.

Our high-quality screening and thorough clinical follow-up procedures can help prevent or minimize the effects of disabling, life-limiting, and sometimes fatal disorders. Our clients receive the tools to communicate laboratory results, recommend next steps to medical providers, and effectively engage their tiniest patients in appropriate medical care when needed.


How We Can Help

  1. 1

    Our team is a nationally recognized leader in newborn screening research, offering extensive clinical knowledge and expertise.
  2. 2

    We pioneer approaches, such as next-generation sequencing, to help clients enhance their newborn screening panels and best meet their population needs.
  3. 3

    Our extensive follow-up supports range from additional testing to referrals, ensuring that screening results inform care.

Our Impact

Conditions Uncovered, Care Guided, Lives Saved

Across New England, we test blood specimens collected from about 500 newborns per day, for 65 possible medical conditions. In Massachusetts alone, 191 babies were treated in 2021 thanks in part to our program and committed follow-up team—with lifesaving results.

The grateful family of one baby, who had long ago received early intervention with hormonal therapy before symptomatic onset of congenital hypothyroidism after detection by our testing, shared with us years later that their child was named middle school class valedictorian.