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New in Newborn Screening

  • Clinical Genetics (D Finegold, Section Editor)
  • Published:
Current Genetic Medicine Reports Aims and scope Submit manuscript

Abstract

Purpose of Review

Since the nationwide implementation of the expanded newborn screen in 2006, five conditions have been added to the core screening panel. Three of these are rare classical inborn errors of metabolism, a traditional focus of newborn screening, namely Pompe disease, Hurler syndrome, and X-linked Adrenoleukodystrophy (XALD). This review will describe first experiences with screening for these conditions and will also critically appraise newborn screening for Krabbe disease which was implemented in some states.

Recent Findings

There is 1–3 years of experience with state-wide newborn screening for Pompe disease and XALD, and state-wide screening for Hurler syndrome is just beginning after pilot studies in one state. In addition, 8 years of experience with screening for Krabbe disease in New York was recently critically reviewed.

Summary

Infantile and late onset forms of Pompe disease are more common than anticipated and very early treated patients do show some sequelae. MPSI pilot data from one state indicated a detection rate of 1:14,567. The surveillance and treatment guidelines developed for XALD will take many years to evaluate because the disease may not manifest for years. Krabbe disease may not be suitable for newborn screening.

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Authors and Affiliations

  1. Div. of Medical Genetics, Children’s Hospital of Pittsburgh of UPMC, University of Pittsburgh, 4401 Penn Ave, Pittsburgh, PA, 15224, USA

    Damara Ortiz & Uta Lichter-Konecki

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  1. Damara Ortiz
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Correspondence to Uta Lichter-Konecki.

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Damara Ortiz reports no conflict of interest. Uta Lichter-Konecki declares that she has no conflict of interest.

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Ortiz, D., Lichter-Konecki, U. New in Newborn Screening. Curr Genet Med Rep 5, 143–148 (2017). https://doi.org/10.1007/s40142-017-0126-5

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