Congenital disorders
Healthy start: ADHS Lab checks the health of Arizona’s newborns
Sep
Each year since 2010, Arizona parents have brought an average of 80,000 newborns into the world! And each year, health professionals at the Arizona State Public Health Laboratory conduct laboratory testing of around 160,000 blood spot specimens annually to make sure those newborns have the best possible health to begin their lives.
ADHS follows the Recommended Uniform Screening Panel (RUSP), a list of disorders that the Department of Health and Human Services (HHS) recommends for states to screen as part of their state universal newborn screening programs. Disorders on the RUSP are chosen based on evidence that supports the potential net benefit of screening, the ability of states to screen for the disorder, and the availability of effective treatments. Arizona is one of the ten states that adopted the RUSP alignment. When a new condition is added to the RUSP, ADHS will have two years to implement the screening of the additional condition.
Established at the State Public Health Laboratory in 1993, the Office of Newborn Screening started screening Arizona newborns for seven disorders. Currently, our scientists screen newborns for 35 rare but treatable core disorders. The testing is also used to screen for an additional 26 rare but treatable secondary disorders on the RUSP.
Arizona is one of 13 states that use the two-screen model. The first screen is recommended to be collected between 36 and 48 hours after birth and the second screen is recommended to be collected between 5 and 10 days of age. Arizona adopted the two-screen model since some disorders, including severe, later-onset, or milder forms of the disorders might be missed from the first screen. This is the reason why the second screen is recommended between 5 to 10 days of age to catch anything that might have missed on the first. In addition, newborns are screened for hearing and congenital heart defects at the birthing facilities before discharge.
The goal of the program is to identify newborns with certain congenital disorders that can affect a child’s long-term health or survival as soon as possible and connect the infants to early care and treatment. On average, the program identifies around 120 newborns with these genetic disorders and 200 newborns with hearing disorders annually. Working with other ADHS programs and other external partners, the program also provides assistance to the families of the affected newborns.
Visit our website for more information about the newborn screening program. In addition you can listen to the podcast – The Parenting Brief- Newborn Screenings: What to Expect – to learn more about what to expect from your baby’s newborn screening. The podcast is hosted by Jessica Stewart-Gonzales, ADHS Program Director for the Maternal, Infant, and Early Childhood Home Visiting Program, and includes important information from Fran Altmaier, ADHS case management coordinator.
Here are some additional resources new parents might want to explore about newborn screening:
NewSTEPS: This site provides a national newborn screening resource center designed to provide data, technical assistance and training to newborn screening programs and assist states with quality improvement initiatives.
Kathryn Wangsness, MHA, is the Assistant Bureau Chief for the Bureau of State Laboratory Services (ASPHL) at the Arizona Department of Health Services (ADHS). Kathryn has been part of the ADHS team since 1997 working as a scientist, certification officer, office chief and now bureau chief over the Offices of Chemistry, Laboratory Licensure and Certification, and Support Services and Operations.
She earned her Masters of Health Administration from the University of Phoenix and her Bachelor of Science degree in Chemistry with an emphasis in Biochemistry from Arizona State University, Tempe, Arizona.
Kathryn joined ADHS in 1997 as a chemist analyzing water samples for inorganic parameters. In 2001, she accepted a position as a Blood Alcohol consultant, which lasted two years, and concurrently as a Federal/State Laboratory Licensure Surveyor in the Office of Laboratory Services. She is an approved EPA certification officer for inspecting inorganics, organics, and microbiology compliance testing in drinking water laboratories. In 2006, she accepted the position of quality assurance manager. In 2008, Kathryn became the Office Chief for the Office of Laboratory Services. She is an alumnus of the APHL Emerging Leader Program and participates in the Emerging Leader Alumni Network (ELAN). She has been trained in continuous quality improvement strategies such as Lean and Six Sigma. She has assisted the laboratory in becoming ISO/IEC 17025 accredited for food and forensic testing.
Kathryn is an active participant in APHL and has served as a member of the Laboratory Systems and Standards Committee from 2021 to present, as a member and as chair the last three years, of the Environmental Laboratory Science Committee from 2009 to 2021, as Chair of the Governmental Environmental Laboratory Accreditation Subcommittee from 2009 to 2016, has participated in numerous workgroups, Co-chaired the Public Health Laboratory Competencies workgroups for surveillance and communication from 2012 to 2014, and chaired the Data Acceptance Workgroup.
