We are pleased to share that updated diagnostic forms are now available for newborn screening programs to use when collecting information from clinicians.

These were updated in collaboration with clinical experts and incorporate current diagnostic criteria, updated American College of Medical Genetics and Genomics (ACMG) ACT Sheets and input from the NewSTEPs Steering Committee, as well as the New Disorders and Follow-Up and Education Subcommittees. The updated forms now include worksheets for all conditions on the current Recommended Uniform Screening (RUSP), including Metachromatic Leukodystrophy (MLD) and Duchenne Muscular Dystrophy (DMD).

We encourage programs to incorporate these forms into their follow-up processes to help collect diagnostic information. This information is important not only for timely case closure, but also for quality improvement efforts, including refining screening algorithms, improving our understanding of false-positive rates, and strengthening newborn screening practices over time.

Please note that some of the information requested on these forms does not directly align with the data elements collected through NewSTEPs. The forms are designed to help programs obtain the clinical information needed to confirm diagnosis and close out cases, so some data elements do not translate directly to the standardized data reported to the NewSTEPs Repository. While not every field on the forms is collected at the national level, we believe the additional information is valuable for program follow-up activities and quality improvement efforts. 

These forms are intended to serve as a resource and can be adapted to fit your program's workflows and needs. We welcome your questions, feedback, and suggestions as you begin using them. Please feel free to contact us at newsteps@aphl.org.