Extended newborn screening

"What is it like to learn that your baby's disease has been missed for lack of screening?"
Tracey Randle (TR), a parent.

My youngest child Dion's cystic fibrosis wasn't diagnosed until he was four-and-a-half years old. "Maybe he has food allergies", "Maybe he is allergic to milk", "Maybe it's toddler diarrhoea", "It's asthma", I was told as I went from doctor to doctor seeking help for his illness. I was in great distress, feeling that only I realised how very ill he was, even after extensive and inconclusive testing at Great Ormond Street Hospital. My family and I could only watch as he deteriorated, becoming weaker day by day, week by week, month by month. He was vomiting and in severe pain. He was asleep three-quarters of the time, and I could only sit by, afraid that he would die in his sleep. My pleas for help were not heard or understood, and it was even suggested that the symptoms were in my imagination, until I rang to say that my son was unconscious on the floor with rectal prolapse. "Push it back up", I was told; we'll send you an appointment". To which I could only reply, screaming, "Help me, or tell me where I can go for help". My experiences have left me lacking in trust for the professionals; when the soya milk recommended by a dietician did not suit him, I was told "We know what we're doing". Whenever new medication is proposed I feel doubtful.

Finally I was relieved to have the diagnosis of CF after those agonising years. Then it was devastating to learn that this illness was incurable, even terminal, and that it had been missed due to lack of screening. If as a result of screening Dion's CF had been diagnosed at the age of two months, I could have accepted the predictable course of the illness and his treatment by physiotherapy and antibiotics; as it is I'm left anxious and distrustful on the one hand, and on the other delighted by every sign of progress, such as his recent learning to swallow tablets. At present he is well, thanks to the treatment he should have been getting for over four years.

Now I hope and pray that CF screening will be available for every newborn child in the near future. I cannot overpraise the support that I and other parents get from the CF Trust, but I can't help sometimes feeling that all the help I get is 'too little, too late'. If you remember one thing from my talk let it be this: lack of screening and unwillingness to listen nearly killed my son.

"What is it like to be told that your 'healthy' baby has a disease?"
Wendy Cheale (WenC),Parent

We were a normal family, married, with a daughter Holly aged three (non-PKU) and a second child on the way. I was employed, but have since given up my job because of the family pressures. My husband has a 35 year-old cousin with PKU.

Alexander was born in May 2000; we had a perfectly healthy, normal baby, and we were so lucky and very happy.

Thirteen days later I received a phone call from St George's Hospital and was told that the Guthrie test was positive and that Alexander possibly had phenylketonuria.

I didn't know what this was but remembered the midwife mentioning an unpronounceable name and that she had never had a positive result in all her years of nursing. In fact if that was the case I would rather she didn't stick a needle in my baby; perhaps we could leave it, I asked? . She then explained that she would have to record this and notify our GP, (another lot of questions, I thought) so I consented.

A nurse rang us, explained the condition and said that we must go the next day to St George's. She mentioned strict diet, that I must stop breastfeeding, and brain damage with consequent learning difficulty if we didn't follow the diet. We were devastated, as you may guess. Would Alexander be brain damaged? Disabled? Go to normal schools? Lead a normal life? All very frightening.

We were fortunate that we could be seen on the next day at St George's; I now know that some parents are informed of the Guthrie result on a Friday, and have to wait over a weekend before seeing the expert. We hope that the professionals will take note of that, and defer giving information to a day when parents can be seen without the weekend delay with its anxiety, and perhaps the guilt of continuing harmful breast feeding for a further two days.

Our consultant spent 2 hours explaining the condition and answering our questions. A second blood test for phenylanaline was taken (we hoped that meant that they had made a mistake; we were in denial). We were told we would have to learn to do blood tests ourselves and were asked to do one there and then. I declined, and my husband nearly passed out. These tests were quite frequent at first, and we were relieved when our health visitor undertook them for about three months. At last we found that we can easily use the Softclix pen devices developed for diabetics.

Although the diet was explained to us, at that time we were not shown any of the available food substitutes, nor were we given a demonstration of mixing the powder supplement into a drink, all of which would have been helpful. I decided not to breastfeed, because all the foods needed to be weighed and measured.

We both cried outside the hospital and most of the way home. We were then faced with making up the supplement, which was very difficult; it had a terrible smell and was lumpy, but after a couple of hours and many attempts we turned it into a drink. Fortunately Alexander didn't mind it, he was such an easy going baby. However by the age of two he was refusing the evil tasting supplement, it was taking hours to persuade him to drink it, and we needed expert advice on getting round this. Our fear that he would be unable to eat most normal foods proved to be groundless, when eventually we learned that some were permitted as long as they were carefully weighed. This is less of an issue for children with mild disease. We take the special foods with us when eating out, asking restaurants for their permission to use it.

Numerous problems crop up in the management of PKU, and we depended very much on weekly discussions with the dieticians, although we found that we came to know more than they did unless they were specialists. The professional services tend to neglect the emotional needs of PKU families, and The National Society for Phenylketonuria (NSPKU) has been an enormous support to us. Speaking to other parents with their experiences is invaluable, but it would be most helpful if a buddy PKU parent counsellor were assigned to a newborn child – to know you are not alone, and to stress the importance of persevering with the dietary regime. NHS support is generally very good and the staff are dedicated, but there is still a knowledge gap; our local hospital staff were interested in their 'first PKU child'. Lacking experience the consultant made inappropriate comments; "Nobody knows if PKU children will develop normally", he said.

Although NSPKU produce a leaflet, dental care has been a problem; we were unaware of the destructive nature of the presence of supplement on teeth, and of the effect of the replacement diet which is high in sugar. Among all our other concerns we neglected tooth brushing, and now Alexander has some severe decay.

PKU can, unless one is very careful, lead to exclusion from participation in dietary activities, (children's parties, eating out with friends, pancake day at school etc.). Alexander is very aware of being socially excluded in any way, and this will continue to affect him. But PKU is part of our daily lives now, just another long term project to manage. Alexander is developing normally, a happy 4 year old, who makes it all worth while.

The impact of screening on families – a Health Visiting perspective.
Helen Johnstone, Public Health Practitioner, Healthy Living Centre, Carlisle

Screening has, until very recently, been an integral part of traditional health visiting practice. In 2003 the fourth edition of the book Health For All Children (Hall and Elliman 2003) (H4HFAC) was published. In the past, H4HFAC's three predecessors have provided a research-based framework from which strategic health authorities could hang their child health service provision. Hall advocates that children's services should be needs-led, or targeted, and responsive to change. It could be argued that H4HFAC (2003) sets out very clearly significant changes as to how the National Screening Programme should be delivered across the UK.

Nationally health visiting has undergone significant changes, and the profession is embracing many of the challenges set out as the new core programme in H4HFAC. Along with this has come a radical change to how traditional screening programmes are delivered, which ultimately has had an effect on the number and types of contacts health visitors have with families. Health visiting is currently trying to balance the following issues: by offering a revised (arguably reduced) core programme, how can we be sure that what we're doing enhances the service offered? How do we confidently take on this new way of working when many have worked for years with traditional national screening programmes? How do we best support families through these professional changes, and how are we going to evaluate their effectiveness? We have to find the balance between providing an adequate child health service, and an evolving responsive service which is resource driven in an environment where budgets are under great strain.

Therefore, with a backdrop of developments in practice and strategic levels, what impact does the National Screening Programme have on families? Health visitors are just one group of professionals at the sharp end of screening programmes. The process of screening can have a profound effect on families, and the support offered is vitally important, irrespective of the screening outcome. This is providing many new challenges to both health visitors and families. Tracey Randle's moving presentation underlines the need to listen carefully to the concerns of parents.

The information we give families must be of the highest quality, to enable them to make informed decisions if for example they are thinking of opting out of screening for their babies. This will depend on good communication and relationships, supporting them in their acceptance of screening and its results, and in their reproductive and life decision making (Bedford et al. 2004). It is a multidisciplinary and multi-agency issue; misunderstandings can be avoided if the right person, introduced early, is in support. It is important that the consequences of a positive result are fully understood and that the dashing of expectations and parental anxiety, when present, are recognised and addressed. Well managed this can be of benefit to psychological health and to relationships between partners.

An example of practice is the introduction of Otoacoustic Emissions Testing (OAE) by health visitors in North Cumbria. Communication, relationships, the professionalism of health visitors, and the service for families have all been enhanced in the few months since this screening was commenced.


Health For All Children 4th Edition. Hall DMB and Elliman D, Oxford University Press 2003

Bedford H.; Elliman D.; Hugman J. Screening in Childhood. Community Practitioner, 2004, vol. 77, no. 1, pp. 7-9(3)

Newborn Screening: working with parents.
Dr Sandy Oliver (SO), Parent Support Research, UK Newborn Screening Programme Centre

Among the major challenges of extended newborn screening are the advances in technology with its inevitable raised expectations, and the difficult issue of informed choice. With newborns being screened for more conditions, there are more tests and parents experience anxious waiting times. Screening for some conditions identifies newborn carriers, and dealing with this may be difficult. Some parents have to cope with screening results that are uncertain, and treatments that have uncertain effects. They are also being asked to consent for the use of residual bloodspots, which are a wonderful research resource; for the professionals this raises the question of how ethically these bloodspots may be put to appropriate use. This is a far cry from glossing over the transient pain of a single heel prick and being told that 'no news is good news'; now another heel prick may be necessary for further testing, especially in the case of CF. Too much information about CF, given by specialists too soon, causes anxiety, and learning of one's carrier status and the necessary sharing of this information with the wider family are stressful.

Parents have to cope with more information, more decisions, more anxiety, more responsibility for decisions about screening and, for some parents, the responsibility for dealing with information about carrier status. There is also the new role for parents in developing information resources and policies to address these challenges and so improve the service.

There is some evidence to suggest that despite these difficulties parents favour newborn screening and knowing the carrier status, and anticipate telling their child in due course; it seems that they do not change their behaviour towards the carrier child. For some, knowledge of their own carrier status is helping them to make future reproductive plans. Health professionals need help in supporting parents through extended screening pathways which may not lead to a clear cut result. Communication policies and resources are being developed with parents and health professionals by the UK Newborn Screening Programme Centre, which I lead.

Parents have usually been given out of date information only about the benefits of screening, short on clarity and including little or nothing about the difficulties or limitations of screening, choice, the carrier state, and genetic testing. They would prefer to know 'just the basics': why the test is important; what conditions are being screened and how common they are; what the test involves; when and how results will be received; and what happens if a result is positive. They prefer the initial results to be given them by non-specialists, who must be well briefed in order to avoid being alarmist. Even so responses may vary from the rush to the internet or the feeling of complete ignorance, and their distress may be compounded by unrelated health problems which their new baby has experienced.

We were commissioned by the DH on behalf of all four UK countries to co-ordinate a quality assurance programme in partnership with parents and health professionals, to monitor and facilitate improvement in screening processes. We have to match the screening pathway to research evidence about communication with parents; to examples of information given to parents; and to information that parents say they want and that health professionals say they need. We convened mixed groups of parents and professionals to consider this information and, through consensus development methods, draft materials and consider how and when it should be supplied. Our purpose has been provide leaflets which will help people to make an informed choice about screening, and to see screening as a programme assisting in the early identification of diseases, but not a guarantee of diagnosis or cure.

Working with parents brings a number of challenges: finding parents of carriers; finding parents of children identified through screening, particularly where the condition found is relatively new to screening; supporting parents of sick children; the differing structures and working procedures of support groups; and the differing views of individuals on the value of screening. Challenges of working with health professionals include their varied experiences of screening and communication; the differing needs and experiences of various professional groups; moving CF screening from a specialist to a generalist service; and concerns about legal protection, for example when parents have changed their minds about screening.

In the course of the work we discussed a number of sensitive issues that were difficult to address in parent information: death (the word appears on the front page of a leaflet), reduced life expectancy as in CF, DNA testing which may put parents off screening altogether, citing particular health professions, storing bloodspots, the research/public health divide for use of bloodspots, and citing support groups. Nevertheless we have already produced a pre-screening parent leaflet, the text for a leaflet when CF is suspected, and text for parents of CF carriers. Our next tasks are producing leaflets for when PKU and congenital hypothyroidism (CHT) are suspected.

Working in this way has helped us develop working relationships with parents, and with people in the voluntary sector and the NHS who will be using these products and working with us to develop training materials for health professionals. For us the journey has been creative and satisfying, however difficult.

Understanding the psychological impact of neonatal screening on parents: The example of neonatal hearing screening.
Theresa Marteau (TM), Department of Psychology, Guy's, King's and St Thomas' School of Medicine

Screening can improve the health of populations. It can also cause anxiety, particularly amongst those who are recalled for further testing, the majority of whom will not be found to have a problem; even then, on the principle that there is no smoke without fire, the parents of newborn babies may suffer extreme anxiety. It is widely believed that the frequency and level of such anxiety would be reduced if those participating in screening programmes had a better understanding of the meaning of possible test results before the start of the screening process; then reassurance might be simpler and more effective.

I will focus narrowly on evidence to support this hypothesis using data from a recent study (Marteau et al. 2004) describing the impact upon maternal anxiety of the screening of newborn hearing. It was the purpose of this study to describe and compare levels of parental anxiety, and to establish the protective effect if any of good levels of knowledge. Amongst 344 mothers of newborn babies (53% had responded) undergoing screening for hearing loss, 55 - almost 16% - were referred for an audiological assessment. It was explained to parents in leaflets that the cause for suspicion of hearing loss (where there wasn't a clear response) was much more likely to be the temporary collection of fluid in the middle ear, malfunction of the equipment, the baby being unsettled or a noisy background than permanent deafness. Those that correctly understood that being referred for an audiological assessment was unlikely to mean that the baby had a hearing loss were less anxious about their babies' hearing. This suggests that knowledge about the meaning of being recalled following screening may avert some of the adverse psychological effects of being recalled. Methods of achieving this need to be developed and incorporated into the routine provision of screening programmes.

The NSC has adopted the principle that screening programmes should offer a choice, and that everyone should appreciate that there are risks and benefits for them as individuals. Mothers whose babies had a clear response on testing were positive in their comments and grateful. A mother whose baby had failed two tests reported that the relevant leaflet provided little additional information. Neither the leaflet nor the person doing the test told her the percentage of babies who had failed two tests; she also felt the need for information differentiating unilateral and bilateral hearing loss, with an idea of the implications of the former.

The challenge is to achieve good understanding of medical procedures in a population about 20per cent of which is functionally illiterate, and so unable to get any benefit from leaflets. Leaflets are not a panacea; interactive means of conveying information are showing promise, and among these the most important is probably the health care professional. In our pilot study we assessed the effect, at the bedside, of taking parents through the screening process, and followed this by putting three key questions to them: what the possible test results were; the meaning of their baby not having a clear response; and what is the proportion of babies after further testing who prove to have a hearing loss. This provided the opportunity to go over these points again for those parents who had clearly not taken the information in. This was useful for parents with low levels of education, but did not increase the already high understanding derived from the leaflets for the better educated parents. Unfortunately screeners were unwilling to undertake this questioning procedure, saying that they believed they lacked the skills and that it seemed to them to be patronizing (Baker, Crockett, Uus, Bamford & Marteau, in press). A review of the literature showed us that this useful checking method is very little used by health professionals.

As a result of this research we believe that understanding the implications of neonatal screening prior to testing may avoid some of its adverse psychological consequences. However achieving good understanding requires the development of effective communication methods, not least by the further training of health professionals, some of whom are deficient in this respect (Maguire et al. 1986). Finally achieving this understanding should figure as an audit outcome. Only by these means can informed choice be achieved for the social and ethnic mix of our population; furthermore the resources must be in place - how often are the services of an interpreter unavailable? These matters need to be given a higher value.

Jervis GA. Studies on phenylpyruvic oligophrenia: the position of the metabolic error. J Biol Chem 1947; 169:651-6.

Baker H, Uus K, Bamford J, Marteau TM. Patient Educ Couns. 2004 Jan; 52(1):55-9.

Baker H, Crockett R, Uus K, Bamford J, & Marteau TM. Why don't health professionals check patient understanding? A questionnaire based study. Psychology Health & Medicine. In press.

Maguire P, Fairbairn S, Fletcher C. Consultation skills of young doctors: II - Most young doctors are bad at giving information. BMJ 1986;292:1576-8.

The practical implications of neonatal screening - the flow of information.
Dr. Ying Foo (YF), Head of Chemical Pathology and Director of Newborn Screening, Great Ormond Street Hospital for Children, London.

The UK Newborn Screening Programme Centre commenced its work in 2001 to develop policies and standards to ensure the delivery of a quality service. The efficient delivery of screening and the flow of information derived from it depend on the close co-operation of professionals in a number of organisations: midwifery, the screening laboratory, the hospital trust clinical team, (metabolic consultants, endocrinologists, dieticians and specialist nurses), the Child Health Department and the Primary Care Trust.

Midwives discuss screening with parents prenatally and provide them with information leaflets. They must also obtain informed consent to the screening process, and it is their responsibility to take the bloodspot samples by heel prick between days 5 and 8 after a birth - ideally on day 5. It is very important that bloodspots are taken correctly; each circle must be filled with blood, and the same amount of blood must appear on both sides of the card; there must be no multi-spotting. Only in this way can false positive results be avoided. They must post the sample to the screening laboratory within 12 hours, avoiding hospital internal mail systems which introduce delays, and deal with the laboratory's requests for repeat samples in the same way. The accuracy of data on the screening card is vital, it is preferable to provide the demographic details on a printed label, including the NHS number as a unique identifier, to facilitate tracking and to reduce transcription error;. If the parents decline screening a blank card completed with demographic data is sent to the laboratory to indicate this, and to close the case.

In the screening laboratory the sample is assigned a number and the data entered on the computer. 3 millimetre bloodspots are punched from the cards and the assays set up to run overnight. Using MS-MS a single spot can be screened for PKU and MCADD. A further punched spot is examined for congenital hypothyroidism, and these three conditions are given priority; the examination for sickle cell disease is done last. Repeats are requested when samples are borderline or rejected. Abnormal results are confirmed and available within four working days; PKU and MCADD cases are referred to metabolic clinicians and, hypothyroidism to endocrinologists on the same day. Results will be downloaded directly to the Child Health Department's computer for the linked districts or hard copies sent to unlinked districts, and positive results reported by letter to GPs, clinicians, and Child Health. Specialist nurses and dieticians are also informed, and the parents and baby are given an appointment when confirmatory investigations are carried out and appropriate treatment commenced.

Samples are rejected if insufficient, contaminated, collected before day 5, delayed or damaged in the post. If a baby has received a blood transfusion a repeat sample is requested for sickle cell disease after 3 months. If this proves positive the baby is referred to a haematology consultant.

Child health departments are responsible for maintaining demographic details, for ensuring complete coverage of the newborn and for reporting results to health visitors. Babies who have been missed should be identified by day 19 so that testing can be carried out immediately. The responsibilities of PCTs include informing parents of normal results, recording results in the child health records and overseeing screening performance in terms of quality issues, audit, and risk management.

The delivery of a quality service relies heavily on good communication between professionals and clear responsibility and accountability at every stage.

Panel discussion.

(SO) The leaflets "When PKU (or CF) is suspected" can be very useful even when an overnight appointment is available; delivered with some reassuring words by GP or health visitor, they can allay some of the anxiety which parents experience when told that a specialist consultation is necessary, and may prevent a rush to the internet where the information is quite likely to cause further anxiety.

(TM) I accept that a parent's sense of how well her baby hears can reduce some of the anxiety around testing, but in principle the responses I have described still occur. Face-to-face good communication, if appropriate by an interpreter, will always be more effective than a leaflet. Anxiety impairs the ability to retain information, so leaflets have their place; but we must not forget the 23% illiteracy. I do not wish to give the impression that communication is simple; however, despite its presence in the medical education curriculum, training in communication skills has not been shown to be effective. Indeed one piece of research showed that medical students' communication skills deteriorated during their training! (Prislin et al. 2000) Another, where the training was well designed and intensive, was shown still to have been effective some years later (Maguire et al. 1986).

(WenC) My health visitor provided emotional support, but was unable to give any any fresh information or supply a leaflet.

(TM) An intensive training in communication skills for medical students on a psychiatric firm, involving role play and feedback, proved to be effective to the extent that communication was shown to be improved three years later (Maguire 1986). Health care professionals are nervous about role play, and inclined to assume that communication is a core skill which requires no improvement. Training for this is still inadequate. [A teacher of 50 years standing can see that the natural communicating ability of the new young student, as yet untroubled by his ignorance, turns during training into inhibited communication caused by an awareness of his limited knowledge].

(YF) Some training is necessary and available for professionals such as health visitors involved with newborn screening in the front line; a roadshow has been out and about for six weeks covering MCADD, and training days are being organised.

(YF) Midwives improve in the efficiency of their taking blood spots with experience and confidence; however it is a problem that there is a large turnover in staff, which increases the rejection rate. Until confidence develops it is difficult to stab a crying baby in front of a hovering mother.

(TM) Decline rates are very low - two to three per cent - in newborn screening; the families which refuse to have their new baby screened for hearing are usually those with a family history who want to enjoy the moment and ask for screening later. [A delegate reported that a national audit of refusals in Scotland is not going ahead for lack of funding].

A Guy's Hospital specialist was able to tell of their exemplary service, in which a consultant would come in on a Saturday morning if a. family had been informed of a positive result the day before; also a GP would have been asked to visit the same evening to give some information. We also give out a telephone number to be used during the night if necessary. Leaflets have their uses, but it has been shown that knowledge retention is actually impaired if only a leaflet is supplied. "And in my training I hated role play".

There are nine child health screening co-ordinators in post appointed by the National Screening Committee to improve co-ordination across the region.

(YF) We reassure midwives that Guthrie cards posted just before and during weekends will not be invalidated due to that delay. Other causes of extended delays are not acceptable, and these are investigated.

(SO) We have supplied NHS Direct with training materials and leaflets, and they will be informed of developments.

(RP) why do we value informed choice so much? My impression after speaking to members of the public is that they are often confused and wish that the doctors would tell them what is best. If after having been informed you choose not to have your baby screened, are you not questioning the child's right to standard medical care? The offer of choice requires a decision and so increases anxiety. It is resource intensive; is it cost-effective? (YF) Parents may suppose that choice permits them to pick and choose between various conditions those for which they wish their baby to be screened. In view of the automation of the technology and the thousands of samples this is nothing but an illusion. (TM) Informed choice for newborn screening is a grey area; it is much clearer for prenatal and adult screening. Surely we can agree that parents would not wish their children to undergo screening without having a good idea of its purpose.


Maguire P, Fairbairn S, Fletcher C. Consultation skills of young doctors: II - Most young doctors are bad at giving information. BMJ 1986;292:1576-8.
Prislin MD, Giglio M, Lewis EM, Ahearn S, Radecki S. Assessing the acquisition of core clinical skills through the use of serial standardized patient assessments. Acad Med. 2000 May;75(5):480-3.

Extended newborn screening