Newborn Screening

Large-scale, population-based health screening helps identify newborns with rare disorders that, if not treated immediately, can lead to mental and physical disabilities, serious illness, or even death.

Our team at the New England Newborn Screening Program provides fast, effective, and reliable services — so babies with treatable disorders can receive the care they need right from the start. We have operated continuously since 1962, with no operations shutdowns. When a January 2015 blizzard in Massachusetts halted transportation efforts, our staff personally collected blood samples from babies in 25 hospitals. Those efforts saved a baby girl born with galactosemia, a metabolic disorder that can be deadly if not detected within days of birth.

We have experience working in five states and four countries, and can provide a full newborn screening program or tailored services based on specific needs:

  • Routine newborn screening that meets state-mandated public health requirements, with services that include specimen shipping, laboratory analysis, and clinical follow-up.
  • Specialty laboratory testing in partnership with other state laboratories to provide tests not currently available in that state
  • Supplemental screening for hospitals offering newborn screening tests not required by state regulations
  • Pilot screening programs to collect data to help support policy decisions on new screening mandates including a new pilot for the Massachusetts Department of Public Health for spinal muscular atrophy
  • International newborn screening services for overseas laboratories, as well as program evaluation, staff training, and quality assurance services
  • Emergency backup and second-tier testing for newborn screening programs in need of supplementary services
  • Training and education programs for scientists and technicians, laboratory development, quality assurance, and physicians and staff in hospitals and clinics

The New England Newborn Screening Program is an innovator in the field of newborn screening, since we launched a voluntary, effective newborn PKU (phenylketonuria) screening program in Massachusetts in 1962. Since then, we applied tandem mass spectrometry to state-regulated newborn screening in 1999 and SCID (severe combined immunodeficiency) screening in 2009. Our researchers have made a number of scientific contributions to newborn screening. We piloted screenings for new tests, including being one of two states to receive a grant from the Centers for Disease Control to develop, demonstrate, and transfer testing strategies for SCID that could be adopted by other newborn screening programs.