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Newborn screening: an overview
1Department of Medical Laboratory Science, University of Massachusetts Dartmouth, N Dartmouth, MA 02747-2300, USA. ecarreiro@umassd.edu
Insights
Newborn screening criteria remain unchanged since the 1960s, despite technological advances. This review explores inherited metabolic diseases and current US newborn screening practices.
Area of Science:
- Medical Genetics
- Public Health
- Biochemistry
Background:
- Newborn screening criteria have been static since the 1960s, focusing on treatable disorders with significant public health impact.
- Technological advancements like tandem mass spectrometry and DNA testing have improved the understanding of inherited metabolic diseases, previously underdiagnosed.
- Current newborn screening in the US varies by state, with phenylketonuria and congenital hypothyroidism universally mandated, while others like galactosemia and sickle cell disease are widely offered.
Purpose of the Study:
- To examine the established criteria for newborn screening tests.
- To discuss the impact of technological advancements on diagnosing inherited metabolic diseases.
- To explore the current landscape of newborn screening in the United States and advocate for national guidelines.
Main Methods:
- Literature review of historical and current newborn screening practices.
- Analysis of technological advancements in diagnostic testing for inherited metabolic disorders.
- Examination of state-by-state variations in newborn screening protocols and mandated tests.
Main Results:
- The core ethical and inclusion criteria for newborn screening tests have not evolved significantly since the 1960s.
- Improved diagnostic technologies have revealed a broader spectrum and incidence of inherited metabolic diseases.
- Significant inconsistencies exist in the number and types of tests offered across US states, prompting calls for federal standardization.
Conclusions:
- There is a growing need to update newborn screening criteria to incorporate modern diagnostic capabilities and address a wider range of inherited metabolic diseases.
- Federal involvement is urged to establish national guidelines, ensuring consistency and equity in newborn screening programs across the United States.
- Further exploration into the incidence and characteristics of various inherited disorders is crucial for optimizing public health strategies.
Abstract:
The ethical considerations and the criteria for inclusion of a test to a newborn screening program have remained constant since testing began in the 1960s. Does the test identify a treatable disorder with significant incidence to pose a public health risk and warrant testing all babies in that state or territory? Technological advances in testing, particularly with the improvement of tandem mass spectrometry techniques and the advent of DNA testing for the specific gene mutations, have expanded our understanding of many inherited metabolic diseases. These mostly autosomal recessive disorders went under-diagnosed by the medical community for many years. This was partly due to the notion that the incidence of inherited metabolic diseases was quite rare and that many so-called birth defects, or unexplained infant deaths, were not associated with any known metabolic disorders. Public health departments, as part of their newborn health programs, offer some newborn screening to all infants born within their jurisdiction. Two tests, those for phenylketonuria (PKU) and congenital hypothyroidism are universally mandated (51/51 juristictions). The next highest frequency tests are for galactosemia and sickle cell disease (50/51), with up to thirty tests available in some states. However, the authority as to which tests are included resides with the local state government, either as a matter of law or as a matter for the public health department. As these matters become more complex, many public health officials and pediatric healthcare practitioners urge the Federal government to become involved and develop national guidelines in an effort to streamline the process and decrease the existing inconsistencies between states. For many laboratorians, the collection of newborn screening blood spot samples is the extent of their involvement in newborn screening programs. The many facets of these programs, the status of newborn screening in the United States, and the incidence and description of selected inherited disorders are explored.