Second-tier strategies in newborn screening

• Verfasst von: Gramer, Gwendolyn [VerfasserIn]
• Verfasst von: Hoffmann, Georg F. [VerfasserIn]
• Titel: Second-tier strategies in newborn screening
• Titelzusatz: potential and limitations
• Verf.angabe: Gwendolyn Gramer and Georg F. Hoffmann
• E-Jahr: 2022
• Jahr: March 14, 2022
• Umfang: 8 S.
• Fussnoten: Gesehen am 12.07.2022
• Titel Quelle: Enthalten in: Medizinische Genetik
• Ort Quelle: Berlin : de Gruyter, 1998
• Jahr Quelle: 2022
• Band/Heft Quelle: 34(2022), 1, Seite 21-28
• ISSN Quelle: 1863-5490
• DOI: doi:10.1515/medgen-2022-2117
• Datenträger: Online-Ressource
• Sprache: eng
• Sach-SW: genetic screening
• Sach-SW: metabolites
• Sach-SW: newborn screening
• Sach-SW: prevention
• Sach-SW: second-tier
• K10plus-PPN: 1809971470

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.