North Dakota Newborn Screening: More than PKU

North Dakota began newborn screening (NBS) in the 1960’s with a single condition, Phenylketonuria (PKU), and has since significantly expanded to encompass nearly 50 primary and secondary congenital and inherited conditions. The primary disorders, also known as core conditions, are the primary targets for the screening. A secondary disorder is one that is discoverable as a result of looking for a primary disorder.

Although there are several conditions included on the NBS panel, many health care professionals still refer to NBS as the “PKU test”. Speaking and writing the incorrect terminology can have a negative impact on a family, the provider and the NBS system. For example, if a family brings their baby to the laboratory for a repeat screen and the collector refers to it as the “PKU test”, the family may only think the laboratory is screening for PKU, and not the other disorders on the panel. Additionally, if a physician gives a verbal order to a nurse for a “PKU test,” the nurse may only order phenylalanine screening, which does not include the many other conditions on the panel. To help minimize anxiety, confusion and misinformation, Baby’s First Test, with the assistance of national and state partners, developed a factsheet explaining why the words we use matter. This prompted the North Dakota NBS and Follow-up Program to take action.

The North Dakota NBS and Follow-up Program sent a survey to all the birthing facilities in the state requesting information on how their documentation, order sets, report sheets and other materials and protocols refer to NBS. Of the 12 birthing facilities in North Dakota, seven referred to NBS as “metabolic screen” or “PKU test”. This data was presented to the North Dakota Newborn Screening Advisory Committee which has representation from each birthing facility. The Advisory Committee members worked with their Information Technology (IT) team and connected them to the North Dakota NBS and Follow-up Program to make changes to their electronic health records (EHRs).

Some Advisory Committee members who work within a larger medical enterprise system connected the North Dakota NBS and Follow-up Program to IT within their organization to make a greater system change within Epic, an electronic health record vendor. This lead to the North Dakota NBS and Follow-up Program connecting with neighboring states with the same medical enterprise system. After presenting evidence that neighboring states were supportive of the enterprise system language change, the entire enterprise system updated the language, which ultimately impacted three states. The documentation in Epic now states, “newborn blood spot screening” as opposed to “PKU” or “metabolic”. Another birthing facility in North Dakota also made a system wide change with their EHR that impacted additional facilities who had the same vendor. They are now documenting with the appropriate terminology.

The North Dakota NBS and Follow-up Program also sent an official memorandum to birthing facilities in the state requesting they change terminology, blood spot bins, laboratory information systems, documentation and charting that refer to “PKU” or “metabolic screening” and replace language with “newborn blood spot screening” to be  consistent. North Dakota is pleased to share that all 12 birthing facilities have either “newborn screening” or “newborn blood spot screening” listed in their EHRs.

It remains vital that other state NBS programs support this change and unify the language used in their states. If you have any questions or want further information, please contact the North Dakota NBS and Follow-up Program at or call 1-800-755-2714. The North Dakota NBS and Follow-up Program is willing to share the correspondence sent to partners to achieve this result.