What's New in Newborn Screening?

Bradford L. Therrell; Colleen Buechner; Michele A. Lloyd-Puryear; Peter C. van Dyck; Marie Y. Mann


Pediatr Health. 2008;2(4):411-429. 

In This Article


Newborn screening is a system consisting of six major components: education, screening, follow-up, diagnosis, treatment or management and evaluation.[3,14,15] Owing to the complexity of interactions within the screening system and the expansive array of screened conditions, it is no longer acceptable to refer to NDBS as 'PKU screening,' as many US healthcare workers continue to do. NBS programs are truly comprehensive and inappropriate descriptive terminology increases the danger of inappropriate patient care. There are many anecdotal reports of instances where screening results for a condition other than PKU were communicated as 'PKU test results' resulting in subsequent inappropriate medical actions. While there are no published reports addressing that adverse medical outcomes have occurred as a result, the potential still exists. Clinicians should actively work to eliminate incorrect and inaccurate NBS program nicknames. Likewise, failure to timely and adequately follow-up NDBS results has been reported to result in adverse consequences, including unnecessary surgery, dehydration, pneumonia and at least one death.[84,85] The lack of a NDBS result should never be interpreted as a sign that increased risk for screened conditions is absent. Rather, a missing result should be interpreted as a need for additional screening follow-up.

The NBS knowledge gap in the clinical community is well documented[27,86,87] and clinicians must avail themselves of opportunities to increase their knowledge. Knowledge gathering should not only include medical implications of NBS results, but also information about how NBS programs operate and how screening policies are made. Active involvement by clinicians in the decision-making process can add an often overlooked dimension to discussions about program expansion and refinement. In addition, clinicians have an obligation to convey accurate information to their patients. Parents have come to expect meaningful discussions about the NBS experience from obstetricians, pediatricians and family physicians. Clinicians need to be particularly cognizant about the tests required, their significance, the manner in which results will be conveyed, possible testing outcomes, testing costs and other screening tests that might be available but not required. This information is generally available from state public health departments and often it is included on their NBS website.

It is inevitable that NBS will continue to expand and, therefore, it is essential that the clinical community become more involved in the screening process. Many federal and state programs exist to assist patients in obtaining necessary services to meet special needs related to NBS outcomes. Clinicians need to be aware of these programs. Furthermore, efforts to extend research into complexities of disease management and disease discovery for the rare conditions included in NBS will continue to expand, and the clinical community should know about these activities. Improved long-term health outcomes as a result of NBS will only be achievable through clinical vigilance, coordinated public health/clinical practice efforts and shared information. It is incumbent on all clinicians to cooperate in meeting NBS system expectations so that the opportunities that arise through the early detection and treatment of congenital conditions will have maximum positive outcomes for their patients.


Comments on Medscape are moderated and should be professional in tone and on topic. You must declare any conflicts of interest related to your comments and responses. Please see our Commenting Guide for further information. We reserve the right to remove posts at our sole discretion.