scope:

The primary goal of this guideline is to enhance the overall quality and continuity of newborn screening (NBS) follow-up and education services offered through public health or other NBS programs. The timeliness, quality, and effectiveness of these services directly affect the health and well-being of babies and their families, as well as the effectiveness of the NBS system.

This guideline discusses both the follow-up and education components of the NBS system. Awareness, education, training, and engagement in NBS programs are pivotal to the ongoing success of NBS as a public health initiative. To ensure efficient coordination and informed decision-making, it is important that these efforts span the entire NBS system, including the preanalytical, analytical, and postanalytical phases. As NBS continues to expand and become more complex, NBS programs increasingly need to invest resources in information dissemination and evaluate the success of those efforts in achieving NBS-related communication goals.

Likewise, post-NBS follow-up services have evolved and might now span from the first days after birth to many years after a patient is diagnosed with a disease or trait or found to have hearing differences. Follow-up services include ensuring that all newborns have received a valid screen; establishing vigorous processes to ensure appropriate follow-up for babies with actionable results; and assessing care coordination, family needs, and health outcomes after diagnosis. In general, robust follow-up is an essential part of the screening pathway, contributing to the NBS goals of quickly detecting at-risk newborns and improving health outcomes for affected babies.

The NBS program should assess the resources available in its geographic location for disease diagnosis, treatment and other interventions, and follow-up. A lack of resources can limit the value of screening. Detecting newborns at increased risk for a disease might not be advisable if sufficient resources for care are not available.

This guideline outlines the wide range of follow-up and education activities that should be included in an NBS system. It is intended for global use by public health officials, policy makers, health care providers (HCPs), and anyone involved in any aspect of follow-up or education within NBS systems, including NBS program personnel, confirmatory laboratory personnel, parents, families, and other caregivers. It does not cover other components of the NBS system, such as laboratory methods, disease-specific monitoring, treatment and other intervention protocols, or specific follow-up considerations for point-of-care (POC) screening (eg, newborn hearing screening, critical congenital heart disease [CCHD] screening by pulse oximetry).

Although funding, laws, regulations, and external advisory committees certainly apply to and affect follow-up and education activities within NBS programs, the details of these components are not included in this guideline. However, it is important for NBS programs to ensure that follow-up and education activities are accounted for within funding, regulatory, and advisory structures by including program elements such as health education, short-term follow-up (STFU) and long-term follow-up (LTFU) staffing needs, materials development and dissemination, contracts with specialty centers, and coverage of medical foods and formulas.