Programme Centre
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Professionals
 | The PKU ProgrammePages in this section:
The PKU Expert Group was established by the UK Newborn Screening Programme Centre (UKNSPC) in late 2008 to review the current national standards and guidelines for clinical referral and to produce detailed screening and diagnostic protocols for phenylketonuria (PKU). The work of the Expert Group and recommendations are contained in The Expert Group PKU Review Report July 2010 v1.0 below. Implementation was completed by screening laboratories across England by 1st April 2011. The PKU laboratory handbook that reflects these national standards and guidance is now available to support laboratories in their introduction. We need to hear from you!My name is Caroline Bridges and I have a 11 year old daughter, Hannah, with PKU. About seven years ago I answered an advert in CLIMB (The National Information Centre for Metabolic Diseases) magazine. They were looking for parents to help health professionals set guidelines for the PKU screening process. Since then I have sat in on various UK Newborn Screening meetings as a parent representative. I have used my PKU screening experience to give health professionals guidance when developing and implementing PKU screening standards. In 2005 the UK Newborn Screening Programme Centre set standards for PKU screening to *ensure timeliness of the process, population uptake and timely diagnosis, assessment and treatment of babies screened positive. (* lifted from the executive summary). In the 2005 guidance from the UK Newborn Screening Programme Centre it was acknowledged that some laboratories use different thresholds and methods for the measurement of phenylalanine. Since 2009 all laboratories have introduced Tandem Mass Spectrometry as the screening technology for PKU. In addition there have been developments in knowledge about biopterin disorders and a need to be consistent with standards and guidance for other screening programmes and therefore a need to revisit the protocols. The PKU Expert Working Group consisting of representatives of the UK Newborn Screening Programme Centre, British Inherited Metabolic Disease Group, UK Newborn Screening Laboratory Network and the National Metabolic Biochemistry Network has been carrying out this review for the past two years. The revised standards/guidance for PKU screening and the PKU Expert Group Report is now available and these standards will be implemented by 1st April 2011. Your Screening StoriesI vividly remember being told by my GP that Hannah had PKU. I remember it was a Friday and we weren't given an appointment with the Consultant until the following Monday. I remember my GP not really knowing anything about PKU, apart from what he had just quickly looked up in his old student notes. I remember what a heartbreaking weekend we had until the Monday morning when we saw the Consultant and Dietician. I'm sure all of us have our own screening story and although we eventually saw a brilliant consultant and dietician the lead up to that was not so good. (The Midwife said to me when she came to take Hannah's heel prick test "It's only routine and it won't affect you"). To support The UK Newborn Programme Centre's important work the Centre would like to hear your screening story, good or bad. This information will be used to check standards across the UK are being met and to improve in areas where they aren't. Please email your screening story (including, if possible, the following points) to Christine.cavanagh@nhs.net or phone Christine on 07786 313 100
T H A N K Y O U Documents to support the PKU Screening Programme include: PKU newborn screening protocol PKU initial clinical referral guidelines and standards Lab notification of a presumptive positive to PKU team Lab notification of 'PKU not suspected, other disorder follow-up' to PKU team Laboratory and PKU specialist contact details PKU Expert Group Review Report Phenylketonuria is suspected leaflet Communication guidelines for phenylketonuria is suspected leaflet |
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