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Newborn blood spot screening

13 June, 2008

Newborn blood spot screening

Members of the team responsible for producing full and up-to-date standards and guidelines for newborn blood spot screening explain how they were developed and what they aim to achieve.
Members of the team responsible for producing full and up-to-date standards and guidelines for newborn blood spot screening explain how they were developed and what they aim to achieve.
 Midwives magazine: May 2005



The UK Newborn Screening Programme Centre (UKNSPC) launched the first UK-wide standards and policies for newborn blood spot screening, together with a national pre-screening information leaflet for parents in December 2004. These standards are included in a document pack that has been sent recently to all heads of midwifery and local screening coordinators. This article describes the standards and policies, as well as the supporting guidelines, that are relevant to midwifery.


‘The historical success of the blood spot screening programme has depended on the diligence and dedication of many health professionals, particularly laboratory directors and midwives’ (UK Newborn Screening Programme Centre, 2004).




 Blood spot screening has, since its inception 30 years ago, successfully delivered screening to the majority of newborn babies in a timely fashion, enabling the prevention of severe disability associated with phenylketonuria (PKU) and congenital hypothyroidism (CHT). It has been recognised that some changes are now necessary, particularly as the programme has been expanded to screen for additional conditions.


UK Newborn Screening Programme Centre (UKNSPC)


The UKNSPC was established in 2002 with the objective of assuring high-quality screening services for babies and their parents. This would be done through the development of a quality assurance programme and performance management framework. Funded by the Department of Health (DH) for England, on behalf of all four UK countries, the centre is a collaboration between Great Ormond Street Hospital for Children NHS Trust, the Institute of Child Health and the Institute of Education, University of London.


Development of the standards


The standards were developed mainly through the work of ten expert groups. These brought together parents of screened children, health and public health professionals, including midwives and paediatricians, screening laboratory directors, information/informatics specialists and staff of child health records departments.


These groups also included or consulted staff within all four UK health departments, as well as international experts. The developed standards were piloted in four areas in England and Northern Ireland. Representatives delivering newborn blood spot screening formed local pilot steering groups. The data collected from the pilots enabled the centre to assess whether the draft standards were achievable, measurable and without ambiguities (UK Newborn Screening Programme Centre, 2004b). The analysis of results and feedback from pilot group members enabled refinements to be made. The draft policies were disseminated for consultation in June 2004 to over 400 individuals and organisations.


Out of these 130 responses were received.

A pack Newborn blood spot screening in the UK has recently been sent to all heads of midwifery and local screening coordinators. This comprises five documents:

Policies and standards for newborn blood spot screening These guide the work of all professionals involved in newborn blood spot screening and concentrate on screening for PKU and CHT. Standards for cystic fibrosis are being developed and will be included in the next version to be published in 2006.

Implementation and reporting guidance This is intended to support directors of public health, screening coordinators and nominated screening leads in establishing performance management arrangements, and to report performance against the standards.

Health professional handbook This provides guidance and support for midwives and other health professionals involved in the practical aspects of screening.

Information for parents This has been developed to enable parents to make informed decisions about newborn blood spot screening and support them through the process.

Training resources This includes presentations and teaching resources to support training of health professionals. These will facilitate the delivery of high-quality screening services.


Policies, standards and guidelines


Six key standards were developed to underpin the performance management framework. Midwives have roles to play in newborn blood spot screening, and inparticular, supporting standards one, two and four (see Box 1 and Standards 1, 2 and 4). The timeliness of treatment is especially vital where PKU or CHT are detected, as early treatment can prevent disability. For the small number of babies thought to have one of the conditions, the UKNSPC’s Initial clinical referral guidelines and standards ensure that the transition from screening into diagnostic and clinical care is sensitive, timely and effective.


The standards are measured at two levels – core and developmental (see Box 1). The ‘core’ ones set out the expected level of performance to deliver an acceptable service, and the ‘developmental’ standards depict a level of performance of enhanced quality. The latter are unlikely to be met now, but are standards towards which the UK needs to work. Achieving these will require collaboration between professional and organisational groups, coupled with increased information technology developments. Certain key assumptions are made when implementing the standards.


The baby’s date of birth is counted as day zero – irrespective of the time of day the baby was born – for the purposes of determining the day on which the blood spot sample should be taken. This method was chosen by a crosssection of health professionals as the easiest to use. Local development of clear responsibilities and accountability will be essential.


Guidelines for communication


Communication with parents is based on the principles of informed choice and parental responsibility (see Box 2) (Hargreaves et al, at press; Newson, at press). The national pre-screening leaflet and accompanying communication guidelines were developed in partnership with parents and health professionals (Stewart et al, at press). After birth, midwives should check parents have a copy of this leaflet and discuss newborn blood spot screening with them.

This discussion should include:

  • Screening is strongly recommended

  • The conditions and how screening can help babies with them

  • How the blood sample is taken, and that sometimes a second sample is needed

  • When parents should receive the results (usually by the six- to eight-week check)

  • That screening for sickle cell disorders and cystic fibrosis can identify babies who are carriers

  •  That screening results are not 100% accurate

  •  A chance to ask questions. There is a chance that in the future, researchers may invite parents or their children to take part in research linked to the blood spot programme. If a parent does not wish to be contacted about future research, the health professional collecting the blood sample should mark ‘No research contact’ on the blood spot card.




During 2005, monitoring of the standards will start. Problems can be identified and dealt with so the public can be assured this programme is performing to the level and in the way they should be able to expect.


Further information


Copies of Newborn blood spot screening in the UK, the national pre-screening leaflet and accompanying communication guidelines and the blood sampling guidelines are available from the UKNSPC website at: www.newbornscreening-bloodspot.org.uk The blood sampling guidelines will also be published in the June issue of RCM Midwives Journal.




The work was funded by the DH and depended on contributions from professionals and parents in the expert groups and pilot areas. The UKNSPC would like to thank Cathy Coppinger and Christine Cavanagh who, as coordinators, led the pilot work. The UKNSPC team comprises strategic director Dr Jane Collins, deputy director and epidemiologist Professor Carol Dezateux, parent support research director Dr Sandy Oliver, epidemiologist Pia Hardelid and the authors of this article.



Standard 1: Timely sample collection



  • At least 24 hours before taking the heel prick, the midwife should ensure parents have a copy of the pre-screening information leaflet. This should have been given to them in the third trimester. This is available at: www.newbornscreening-bloodspot.org.uk and is included within ‘Newborn blood spot screening – information and support for parents’

  • Consent for screening should be sought and recorded in the maternity notes

  • Samples should be taken on day five where possible

  • Samples should be taken on day five to eight irrespective of medical condition, prematurity or feeding status (Dontanville and Cunningham, 1973). This is essential if treatable disorders are to be detected in a timely manner. In the past, there was concern that babies with PKU who were not on full milk feeds might not have developed a raised phenylalanine level, but subsequent research has shown this to be ill-founded. Similarly, although it is relevant to record the baby’s gestation on the blood spot card, prematurity is not a reason to delay blood sampling. A further sample should be taken at a postnatal age equivalent to 36-weeks’ gestation. Premature or sick babies have often been less likely to receive preventative healthcare measures such as newborn screening, and it is vital that all babies, irrespective of their status, are screened at the recommended time

  • Where possible blood spots should be taken prior to transfusion for sickle cell screening. When this is not possible and a baby has already had a transfusion by the time the blood spots are taken, repeat samples are needed 72 hours after the transfusion (for PKU, CHT and cystic fibrosis), as well as at three months old (for sickle cell disorders). If blood spots are taken before a transfusion and the baby is not yet five days old, a further sample may be required at the discretion of the newborn screening laboratory

  • The sample should be taken in accordance with the blood sampling guidelines

  • It is imperative that the details on the blood spot card are complete and legible

  • If the parent(s) decline screening for their baby, either for specific conditions or the full programme, the blood spot screening card should be clearly marked ‘Decline’ (in accordance with the blood sampling guidelines and sent to the laboratory in the normal way. This enables the decline to be noted in the laboratory and passed on to the Child Health Records Department

  • Where the parents decline screening, either for specific conditions or the full programme, the health professional should ensure that the parents have full information on who to contact and how, should they change their minds

  • It is important that both the family GP and health visitor are informed of the decline in writing by the head of midwifery, as this information may be of clinical importance in the future care of the child.  



 Standard 2: Timely sample dispatch


Purpose The success of the screening process depends heavily on timeliness. Eliminating delays in despatching blood spot screening cards between the health professional taking the sample and the screening laboratory is vital. Achieving, or exceeding, this standard will allow the laboratory to carry out the analysis of the sample at the earliest opportunity. This means that where a positive screening result is suspected, there is sufficient time for follow-up action and clinical referral, if indicated.


  • Blood spot screening cards should be sent to the screening laboratory within 24 hours of being taken

  • Where postal methods are used, the screening cards should be posted first class, in pre-paid, clearly identifiable ‘screening’ envelopes

  • When this standard cannot be met through traditional postage systems, alternative methods should be explored and implemented

  • Dispatch of screening cards should not be delayed in order to batch cards together in one envelope

  •  The professional taking and posting the sample should record the sample date and the posting/dispatch date. In the event of delayed or missing samples, such information aids auditing the process as part of ongoing quality improvements

  • Maternity units should also put in place robust systems whereby births are matched with babies tested to ensure untested babies, or those that need retesting, are identified as early as possible

  • Steps should be taken to avoid posted samples being delayed in hospital internal mail processes by establishing mechanisms to ensure samples are delivered directly to the laboratory

  • Laboratories should record the dates of when the sample was taken and when it arrived in the laboratory. 


 Standard 4: Enhanced tracking abilities



The standard is intended to provide the incentive to make use of the NHS number within the newborn screening process. This is a unique identifier that will aid the identification and tracking of babies throughout the screening process. The piloting of these standards supported manual use of the NHS number. Steps should be taken locally to minimise transcription error.


  • Where available, NHS number barcoded labels should be given to parents to be used for blood spot screening. Local arrangements must be made for home births (including deliveries by independent midwives) and births in private hospitals

  • At the time of blood sampling, the health professional should request an NHS number bar-coded label from the parent and confirm that the details are those of the baby

  • Where the NHS number label fits on the blood spot screening card without obscuring important data, it should be stuck onto the card by the health professional during blood sampling

  • Blood spot cards should never be pre-labelled, as this may increase the risk of putting the blood from one baby onto the card of another

  • Where the facility to produce NHS number bar-coded labels does not exist, the number should be carefully and clearly written on the blood spot card by the professional taking the sample. (The concept of manual entry of the NHS number was supported during the piloting of the standards and is in keeping with the requirements of the implementation of the NHS care record)

  • On receipt of blood spot cards on which the NHS number has been handwritten, the number should be entered into the laboratory system manually. Although this incurs additional data entry time, it enhances identification of babies, saving time later.  


Box 2. Principles underpinning communication with parents

  • The UKNSPC strongly recommends that newborn babies be screened

  • Parents are entitled to choose whether or not they want their baby screened. This includes the right to accept screening for some conditions, while declining screening for others _ Parents are entitled to high-quality information to inform their choice, in written and other formats. Parents must be given time to make their choice

  • Both the communication with parents and their decision must be recorded in the maternity notes. A signature is not required

  • Parents have a right to information about their baby’s screening result, including the reason for any repeat samples, and normal as well as abnormal screening results.  





Dontanville VK, Cunningham GC. (1973) Effect of feeding on screening for PKU in infants. Pediatrics 51(3): 531-8. Hargreaves K, Stewart R, Oliver S. (In press) Informed choice and public health screening for children: the case of blood spot screening. Health Expectations. Newson A. (In press) Should parental refusals of newborn screening be respected? Cambridge Quarterly of Healthcare Ethics. Stewart R, Hargreaves K, Oliver S. (In press) Evidence informed policy making for health communication. Health Education Journal. UK Newborn Screening Programme Centre. (2004) Policies and standards for newborn blood spot screening. Launch papers. See: www.newbornscreen-bloodspot.org.uk (accessed April 2005). UK Newborn Screening Programme Centre. (2004b) Standards for performance management of newborn blood spot screening pilot project report. See: www.newbornscreenbloodspot. org.uk (accessed April 2005).     



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