Newborn screening for lysosomal storage diseases: an ethical and policy analysis

Ross, Lainie Friedman

doi:10.1007/s10545-011-9435-0

Cited by 47 publications

(39 citation statements)

References 52 publications

(58 reference statements)

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“…61,62,65 Several ethical concerns have been raised by the ACHDNC in their responses to proponents of LSD nominations (see above) and by others. 72 A recurring concern of NBS for LSDs is the fact that cases identified as late-onset or mild variants of disease outnumber cases that may require initiation of treatment shortly after birth. As has been observed for Krabbe disease, the result of such cases is frustration both for the affected families and for follow-up care providers.…”

Section: Discussionmentioning

confidence: 99%

Newborn screening for lysosomal storage disorders

Matern

Gavrilov

Oglesbee

et al. 2015

Seminars in Perinatology

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Section: Discussionmentioning

confidence: 99%

Newborn screening for lysosomal storage disorders

Matern

Gavrilov

Oglesbee

et al. 2015

Seminars in Perinatology

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“…In a recent paper, three LSDs were evaluated -Pompe disease, Fabry disease, and Krabbe disease which fail to meet some of the critical Wilson and Jungner criteria and thus are not ready for inclusion in universal NBS panels. It was concluded that screening for these conditions should only be performed in the research context with institutional review board approval and parental permission [ 18 ].…”

Section: Lysosomal Storage Diseases By Tandem Mass Spectrometrymentioning

confidence: 99%

Expanded newborn screening and confirmatory follow-up testing for inborn errors of metabolism detected by tandem mass spectrometry

Özben

2012

Clinical Chemistry and Laboratory Medicine (CCLM)

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Newborn screening (NBS) of inborn errors of metabolism (IEM) is a coordinated comprehensive system consisting of education, screening, follow-up of abnormal test results, confirmatory testing, diagnosis, treatment, and evaluation of periodic outcome and efficiency. The ultimate goal of NBS and follow-up programs is to reduce morbidity and mortality from the disorders. Over the past decade, tandem mass spectrometry (MS/MS) has become a key technology in the field of NBS. It has replaced classic screening techniques of one-analysis, one-metabolite, one-disease with one analysis, many-metabolites, and many-diseases. The development of electrospray ionization (ESI), automation of sample handling and data manipulation have allowed the introduction of expanded NBS for the identification of numerous conditions on a single sample and new conditions to be added to the list of disorders being screened for using MS/MS. In the case of a screened positive result, a follow-up analytical test should be performed for confirmation of the primary result. The most common confirmatory follow-up tests are amino acids and acylcarnitine analysis in plasma and organic acid analysis in urine. NBS should be integrated with follow-up and clinical management. Recent improvements in therapy have caused some disorders to be considered as potential candidates for NBS. This review covers some of the basic theory of expanded MS/MS and follow-up confirmatory tests applied for NBS of IEM.

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“…A number of studies have focused on the optimal approach for sensitive and specific NBS for MPS I [16][17][18][19], and several NBS pilot programs that include MPS I screening have recently begun [1,20,21]. However, discussions on including MPS I in NBS programs will raise ethical issues, including the drawbacks of early detection in patients with late-onset, attenuated phenotypes [22][23][24][25], that need to be addressed.…”

Section: Introductionmentioning

confidence: 99%