scope:

The primary goal of this guideline is to enhance the quality of follow-up services for newborns screened through public health or other newborn screening programs (NSPs). The quality of these services has a direct impact on the health of newborns and families, and on the effectiveness of newborn screening as a system.

Short-term follow-up (STFU), in the first days and weeks of life, is essential to ensure that all newborns receive a valid screening test, and that those with screen positive results receive a definitive diagnosis, in the most expedient manner possible, and appropriate clinical management if confirmed.

Long-term follow-up (LTFU) comprises all of the activities that should occur after a patient is diagnosed and subsequently confirmed with a condition. It includes care coordination, assuring the availability of evidence-based treatment, continuous quality improvement, new knowledge discovery, and, importantly, periodic assessment of the clinical outcomes in affected individuals without which there can be no assurance that newborn screening goals are being met. It should also include efforts to document cases diagnosed clinically or outside the newborn screening system (NSS).

This guideline outlines STFU and LTFU activities that should be included in an NSS. It does not address other components of the overall NSS, such as laboratory methods, intervention protocols, or administrative organization. It is intended for global use by public health officials, policy makers, and all involved in any aspect of follow-up within NSS, including confirmatory laboratory personnel, health care providers, parents, and families.