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

Abstract and Introduction


Newborn screening (NBS) serves as an important preventive public health program to assist families in obtaining early diagnoses, medical interventions and services for newborns affected with rare congenital conditions. Recent advances in screening techniques using tandem mass spectrometry have vastly increased the number of metabolic conditions that can be detected at birth and many NBS programs have expanded their screening panels accordingly, some now screening for more than 50 conditions. Ongoing program expansions and continuing advances in screening technology and medical care means that today, more than ever, clinicians must be fully informed about NBS. We review some of the issues impacting NBS in the USA as food for thought for clinicians faced with fulfilling their expanded role in NBS systems support. This article reviews the current status of NBS using experiences in the USA as an example of how current NBS systems are changing throughout the world. We provide information on recent publications of interest, significant policy and program issues and resources available to assist in coping with NBS advances. For clarification, we will refer to the classical form of NBS (i.e., laboratory analyses from dried blood spots) as newborn dried blood-spot screening (NDBS) and screening for congenital hearing deficiencies in newborns as newborn hearing screening (NHS). The abbreviation 'NBS' will be used to denote the more comprehensive integrated system that can include both NDBS and NHS. Use of the term 'state programs' refers to programs in the 50 US states and the District of Columbia (i.e., a total of 51 state programs nationally).


It is now almost 50 years since Robert Guthrie initiated the pioneering research that eventually led to population-based newborn dried blood-spot screening (NDBS).[1] He developed the now well-known procedure of using blood absorbed onto filter paper to screen for phenylketonuria (PKU). His research and advocacy in the early 1960s were key to the general acceptance of NDBS as an essential preventive public health activity. Interestingly, suggestions about ways to implement universal newborn hearing screening (NHS) began at about the same time, but it was not until the late 1990s that it became accepted in medical practice.[2] As a result of research activities, technical advances, and health policy evolution through the years, comprehensive newborn screening (NBS) now routinely includes detection of over 50 congenital conditions, including NHS.[3]

The ways in which NBS is implemented and the numbers of conditions screened vary throughout the world.[4] Recent country- and region-specific reviews highlight this variability.[5,6,7,8,9,10,11] It appears that the ways in which clinicians must function within NBS systems and react to system changes are not significantly different across programs. Despite the fact that the NBS process may occur at the same time in all jurisdictions (i.e., NDBS screening may occur at a few days of age in some jurisdictions or just after 24 h of age in others and the time for NHS screening also varies widely) and medical systems differ with respect to financing and care accessibility, the basic responsibilities for clinicians are essentially the same - early and accurate diagnosis and medical management.

Access to NBS and sustainable program financing includes legally required screening in some jurisdictions, most notably the states within the USA. In many jurisdictions outside of the USA, recommended (voluntary) NBS often accomplishes the same end result, particularly where NBS is considered to be a medical practice standard. We have targeted the screening activities in the USA as illustrative of general NBS activities and issues, with the understanding that the specifics of some USA discussion items may not apply in all international jurisdictions. As a practical matter, because there is not yet a national NBS policy in the USA, the state programs can usually be viewed functionally as similar to 51 separate national programs. Indeed, the number of births in individual states often equals or exceeds those of many nations around the world ( Table 1 ) and NBS implementation/sustainability policy issues are often similar.


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