Programme Identifies Babies with Rare Conditions Enabling Early Treatment
On 1st April 2012, the UK Newborn Screening Programme Centre (UKNSPC), hosted by Great Ormond Street Hospital NHS Foundation Trust, celebrated its 10th anniversary.
The UKNSPC has played an integral and crucial role in the development and delivery of the national blood spot screening programme that has improved the health and well-being of screened babies over the last decade. 99% of babies born each year are screened as part of the programme.
Newborn blood spot screening identifies babies who may have rare but serious conditions. The UK National Screening Committee recommends that all babies are offered screening for phenylketonuria, congenital hypothyroidism, sickle cell disease, cystic fibrosis and medium-chain acyl-CoA dehydrogenase deficiency.
Most babies screened will not have any of the conditions but, for the small numbers that do, the benefits of screening are enormous. A diagnosis soon after birth can ensure access to health services and treatment as soon as possible. Early treatment can improve their health and prevent severe disability or even death. Screening takes place about a week after birth. The midwife will prick the baby's heel using a special device to collect some drops of blood onto a card.
Of the 16,500,000 babies screened during the period 2005-2012, over one in every thousand were found to have one of the conditions.
Prior to the establishment of the UKNSPC, delivery was inconsistent around the country and policies and practices varied considerably. With the inception of the Programme Centre these issues were addressed as well as providing greater clarity of the roles of healthcare professionals involved in the delivery of the programme.
Under the leadership of the UKNSPC, screening for medium-chain acyl-CoA dehydrogenase deficiency and cystic fibrosis, have been implemented. Phenylketonuria and congenital hypothyroidism were introduced before 2002 and introduction of screening for sickle cell disease in 2001 was led by the Sickle Cell and Thalassaemia Screening Programme.
In 2010, the use of the NHS number on all samples was mandated by the UKNSPC. This was required to ensure the correct identification of samples and has reduced the need for re-bleeding babies, which is performed when an NHS number is missing. In spite of initial reluctance, this has now been widely accepted and driven quality improvement. In England, 99% of blood spot cards now include an NHS number.
The UKNSPC has responsibility for developing, implementing and maintaining a high quality, uniform screening programme for all newborn babies and their parents. It has significantly improved awareness amongst health professionals and parents for the five conditions screened by introducing a range of resources. The Programme Centre will continue to develop effective awareness raising tools, including a film for health professionals, which will demonstrate how to take the perfect blood spot.
Dr David Elliman, Strategic Director, UKNSPC, comments, “The Centre has worked very effectively alongside stakeholders to ensure the smooth introduction of national standards which enable us to measure the success of screening. Although not mandatory, all providers have worked very hard to return data and it is gratifying to see improvements in many areas.
“New programmes have been introduced throughout the last decade, and the established programmes have undergone change with the support of stakeholders, including modification of screening of premature babies for congenital hypothyroidism.”
Alison Cryer, Antenatal and Child Health Screening Co-ordinator, NHS East Midlands, comments, “Before taking on my current role, I was a clinical midwife and undertook newborn screening on a day to day basis. Information on screening for both parents and professionals prior to 2002 was adequate but minimal compared to the excellent resources provided by the UKNSPC today. The guidance and standards provided by the Programme Centre ensure that professionals are able to give accurate information on the conditions being screened for, which in turn ensures parents are able to make an informed choice as to whether they consent to, or decline, screening for their baby.”
Caroline Bridges, parent representative, UKNSPC, adds, “If my midwife and our GP had the information and guidance twelve years ago that is available now through the UKNSPC, we would have had a completely different start to our phenylketonuria journey. Having been given the heel prick test result on a Friday we spent the weekend sick with worry about what our daughter’s condition could do to her. We weren’t given any information about phenylketonuria. Fortunately our experience is a thing of the past thanks to the work of the UKNSPC.”
The benefits of early treatment for phenylketonuria and congenital hypothyroidism are very clear – early treatment prevents severe mental and/or physical disability. Treatment and parental education has been shown to improve the health of babies with sickle cell disease, preventing infections, disability and death. The benefits of early treatment for cystic fibrosis is thought to improve the health of babies with the condition, as well as reducing anxiety associated with diagnosis later in childhood. Early care for babies with medium-chain acyl-CoA dehydrogenase deficiency can prevent them becoming suddenly and seriously ill that can lead to death.
The UK Newborn Screening Programme Centre is a collaboration between Great Ormond Street Hospital for Children NHS Foundation Trust, the UCL Institute of Child Health and the Institute of Education (University of London), funded by the Department of Health.