You are here

Article Text

Article menu
Download PDFPDF
Guideline review
Update on expanded newborn screening
  1. Hannah Jacob
  1. Correspondence to Dr Hannah Jacob, UCL Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK; hcjacob{at}gmail.com

https://doi.org/10.1136/archdischild-2015-309429

Statistics from Altmetric.com

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

    In January 2015, the National Health Service Newborn Blood Spot Screening Programme in England was expanded to include four additional diseases: maple syrup urine disease (MSUD), isovaleric acidaemia (IVA), glutaric aciduria type 1 (GA1) and homocystinuria (pyridoxine-non-responsive type). The UK National Screening Committee recommended the addition of these inherited metabolic conditions following a pilot study in England. They now form part of routine newborn screening, along with testing for phenylketonuria, cystic fibrosis, sickle cell disease, congenital hypothyroidism and medium-chain acyl-CoA dehydrogenase deficiency (MCADD).

    What should I be doing?

    • Ensure high-quality blood samples …

    View Full Text

    Footnotes

    • Funding HJ is an Academic Clinical Fellow funded by the National Institute for Health Research.

    • Competing interests None declared.

    • Provenance and peer review Commissioned; externally peer reviewed.

    Linked Articles