It started a few days after birth with a few drops of blood taken from a newborn’s foot. And for the family of young Maisie, on her fifth day of life, it portended a potentially life-saving discovery.
Called “newborn bloodspot screening,” or NBS, these samples are tested for more than 45 congenital disorders.
Laboratory scientists test for serious but treatable conditions that would otherwise not be detected, such as cystic fibrosis, sickle cell disease, severe immunity disorders, metabolic disorders such as phenylketonuria (PKU) and medium-chain acyl-coenzyme A dehydrogenase deficiency (MCAD deficiency), and more.
In Maisie’s case, the test results indicated she was at high risk for MCAD deficiency. Patients with MCAD deficiency cannot properly break down fatty acids for energy and are at risk of sudden infant death.
“Our newborn screening saved us the trauma of one day walking into her room and her not waking up, or her having a medical crisis,” said her mother, Leslie.
“It may seem like a one-in-a-million shot, but there is only one Maisie and we’re so grateful for the important work that is being done.”
State law requires all babies born in Oregon have access to newborn bloodspot screening.
The first sample is collected within one to two days of life and is sent to the Oregon State Public Health Laboratory (OSPHL) in Hillsboro.
A second sample is collected from every newborn at 10 to 14 days of life to screen for later-onset conditions. On a typical day, more than 300 samples are tested at the lab.
Results are generally available within 24 hours.
Early detection of a congenital disease through screening leads to an evaluation by a health care provider, additional confirmatory testing, and life-saving treatment within days after birth.
“Through this program and the extraordinary cooperation of our partners at Oregon Health and Science University (OHSU), we are able to prevent serious complications that otherwise would not be discovered possibly until it was too late,” said Patrice Held, Ph.D., Newborn Screening Program manager at OSPHL. The lab is based at Oregon Health Authority’s Public Health Division.
Established in 1963, Oregon’s NBS program is one of the first of its kind in the nation, universally testing more than 99% of the state’s newborns from samples taken by doctors, nurses, midwives or other health care professionals.
Early detection and timely interventions significantly improved health outcomes for Maisie.
Today Maisie is a thriving 2-year-old, romping with her older sister, Ruby, 5 and big brother Theo, 7.
To raise awareness about Oregon’s Newborn Bloodspot Screening Program, as September’s Newborn Screening Awareness Month winds down, OHA has produced this comprehensive and informative video, underscoring the impact of newborn screening.
“By increasing awareness, we hope to ensure that every newborn in Oregon receives this essential screening,” Held said.
Learn more here about how bloodspot screening works, and the collaborative effort to ensure healthy babies in Oregon.
Source: Oregon Health Authority