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April 10, 2012Clinical ChemistryOpen Access

Newborn Screening for Spinal Muscular Atrophy by Calibrated Short-Amplicon Melt Profiling

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Why the study?

Does calibrated short-amplicon melt profiling accurately identify homozygous deletions of the SMN1 gene for newborn screening of spinal muscular atrophy?

Population

Approximately 1000 purified DNA samples, 100 self-created dried blood spots, and >1200 dried blood spots…

Design

Other

Authors

SDSteven F. DobrowolskiHPHà PhạmFDFrances P. Downes

Discussion

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Overview

Supports assay feasibility for SMA newborn screening; leaves open need for prospective validation before routine adoption.

Structured PICO

Does calibrated short-amplicon melt profiling accurately identify homozygous deletions of the SMN1 gene for newborn screening of spinal muscular atrophy?

P
Population
Approximately 1000 purified DNA samples, 100 self-created dried blood spots, and >1200 dried blood spots from newborn screening tests
I
Intervention
DNA-based newborn screening assay using calibrated short-amplicon melt profiling to identify homozygous deletions of the SMN1 gene
O
Outcome
Identification of homozygous deletion of SMN1 exon 7surrogate

A newly developed DNA-based newborn screening assay using calibrated short-amplicon melt profiling can reliably identify presymptomatic spinal muscular atrophy patients.

Cite This Study

Dobrowolski et al. (2012) studied this question.

synapsesocial.com/papers/6a952cde2fdd6c151ff2284ahttps://doi.org/10.1373/clinchem.2012.183038
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Assessment of Liquid Microbead Arrays for the Screening of Newborns for Spinal Muscular Atrophy2007 · 30 citations
  2. 2Homozygous <i>SMN1</i> deletions in unaffected family members and modification of the phenotype by <i>SMN2</i>2004 · 162 citations
  3. 3Triptolide increases transcript and protein levels of survival motor neurons in human SMA fibroblasts and improves survival in SMA‐like mice2012 · 24 citations
  4. 4Identifying sequence variants in the human mitochondrial genome using high-resolution melt (HRM) profiling2009 · 72 citations
  5. 5Base-pair neutral homozygotes can be discriminated by calibrated high-resolution melting of small amplicons2008 · 111 citations