Current Status of Knowledge, Attitudes, Practices, and Health Education Related to Newborn Inherited Metabolic Diseases and Newborn Screening: A Scoping Review

Newborn screening (NBS) is an important public health strategy for the early identification of treatable and/or preventable conditions, and it can substantially reduce morbidity and mortality for certain inherited metabolic diseases. However, across key stages such as screening implementation and result disclosure, repeat testing and follow-up, post-diagnostic management, and long-term care, families often face challenges including inadequate understanding of information, difficulty interpreting results, unclear follow-up pathways, increased anxiety, and heightened uncertainty. With the expansion of screening panels and the emergence of genome-related screening contexts, the public and families have more complex needs for understanding and decision making around the “purpose - risk - benefit - follow-up management” of screening. Pregnancy is a critical window for providing relevant health education and decision support. Therefore, it is necessary to systematically map evidence on knowledge, attitudes/beliefs, and practices (KAP) related to newborn inherited metabolic diseases and newborn screening, identify the distribution of evidence and existing gaps, and provide a basis for instrument development and the design of health education interventions.