Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2022 May 7;34(1):21-28.
doi: 10.1515/medgen-2022-2117. eCollection 2022 Apr.

Second-tier strategies in newborn screening - potential and limitations

Gwendolyn Gramer  1 , Georg F Hoffmann  2
Affiliations

Second-tier strategies in newborn screening - potential and limitations

Gwendolyn Gramer et al. Med Genet. .

Abstract

Newborn screening (NBS) is a public health measure to identify children with treatable disorders within the first days of life allowing presymptomatic treatment. It is the most successful measure of secondary medical prevention and part of public health programs in many countries worldwide. Application of second-tier strategies in NBS allows for increased specificity and consecutively a higher positive predictive value. Second-tier strategies can include analysis of specific biomarkers for a target disorder or may be based on molecular genetic analyses. Improving the quality of NBS, for example by second-tier strategies, is of utmost importance to maintain the high acceptance of NBS by families - especially as an increasing number of target disorders is being consecutively included into NBS programs.

Keywords: genetic screening; metabolites; newborn screening; prevention; second-tier.

PubMed Disclaimer

Conflict of interest statement

Competing interests: Authors state no conflict of interest.

Figures

Figure 1
Figure 1
Principle of second-tier strategies in newborn screening (adapted from [12]).
See this image and copyright information in PMC

References

    1. Gramer G, Nennstiel-Ratzel U, Hoffmann GF. 50 Jahre Neugeborenenscreening in Deutschland – Bisherige Ergebnisse und zukünftige Herausforderungen (50 years of newborn screening in Germany. Achievements and future challenges) Monatsschr Kinderheilkd. 2018;166:987–93.
    1. Loeber JG. et al. Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010. Int J Neonatal Screen. 2021;7(1):15. - PMC - PubMed
    1. Therrell BL. et al. Current status of newborn screening worldwide: 2015. Semin Perinatol. 2015;39(3):171–87. - PubMed
    1. American College of Medical Genetics Newborn Screening Expert Group. Newborn screening: toward a uniform screening panel and system–executive summary. Pediatrics. 2006;117:S296–307. - PubMed
    1. Wilson JMG, Jungner G. Principles and Practice of Screening for Disease. Geneva: World Health Organization; 1968. http://www.who.int/bulletin/volumes/86/4/07-050112BP.pdf

LinkOut - more resources