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Newborn Screening Awareness Month 2019

Stephen Clarkson and Celia Hewitt, of the clinical negligence team based in Manchester, discuss the importance of newborn screening in their blog for Newborn Screening Awareness Month.

Newborn
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Stephen is a solicitor who works in the clinical negligence department of Leigh Day’s Manchester office. Celia Hewitt is a paralegal in the clinical negligence departmnet in the Manchester office. 
Newborn Screening Awareness Month is an annual event aimed to increase understanding and awareness of the importance of newborn screening among new and expecting parents, healthcare professionals and the public. The NHS newborn screening programmes help to prevent lifelong disability and fatality using early identification, referral and treatment. Most babies will not have any conditions, but for those who do, the benefits of testing and early detection can have a significant impact on quality of life.
 

So, what is newborn screening? 

 
Newborn screening is a series of optional tests offered within the first few weeks of life. However, babies can be screened up until twelve months for all conditions listed below, except for cystic fibrosis, which is unreliable after eight weeks of age. The tests are quick, simple and are not harmful to babies. The tests are strongly recommended but do require consent from the baby’s parents. If declined, screening should be offered again before the baby reaches one year of age. However, with some conditions, such as hip dysplasia, a delay in diagnosis of only a few weeks can have a significant impact on the lifelong quality of life for the child, and so the earlier the checks are performed, the better.
 
There are three types of examination; blood spot (heel prick), physical and hearing.
 

Newborn Blood Spot (NBS)

 
The NBS heel prick test is a small sample testing for nine rare but serious health conditions. This test is carried out at five days old and can detect:
 
  • Sickle Cell Disease (SCD) 
  • Cystic Fibrosis (CF) 
  • Congenital Hypothyroidism (CHT) 
  • Phenylketonuria (PKU) 
  • Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) 
  • Maple syrup uterine disease (MSUD) 
  • Isovaleric academia (IVA) 
  • Glutaric acuduria type 1 (GA1) 
  • Homocystinuria (HCU) 
 
Health professionals should query with parents any family history of the conditions above, in particular the last six which are inherited metabolic diseases (IMDs), and an additional early blood spot sample could be involved. IMDs can cause severe illness and/or developmental problems, learning difficulties and in rare cases can even be life threatening. 
 
The results usually take around six weeks and although having results cannot always prevent periods of illness, early detection and treatment can hugely improve the health and outcome for the baby. It is also important to note that sometimes screening can give a false positive or a false negative result.
 

Newborn and Infant Physical Examination (NIPE)

 
The physical examination, introduced in England in 1986, assesses the baby’s eyes, heart, hips and, in boys, their testicles. This examination is usually carried out in hospital within 72 hours of age and then again by the GP at six to eight weeks of age. The physical examination mainly seeks to identify cataracts and clouding in the eyes, heart problems such as congenital heart disease, hip dysplasia (when the hip joints are not formed properly) and checking that the testicles have descended.
 
SMaRT4NIPE is the IT system used for the newborn and infant physical examination (NIPE) which is used by 128 NHS trusts in England, and important improvements to the system were brought in on 6 September 2019. These changes include making hip risk factors a mandatory field.  For example, first-born children and girls are at an increased risk of hip dysplasia. If hip dysplasia is identified in early infancy, it can be treated using a splint to stabilise the position of the hips and help normal development with huge success rates. If diagnosis is delayed, the outcome and treatment can be significantly more detrimental to the child, including the possibility of repeat surgeries in childhood as well as the risk of arthritis and hip replacements in adulthood.  A delay of even a few weeks can make a huge difference.
 

Hearing Test 

 
The final element of newborn screening is a hearing test which is carried out soon after the baby is born in hospital or by a heath visitor. The test involves automated otoacoustic emission (AOAE), where a small earpiece playing gentle clicking sounds is placed in the baby’s ear. The test takes just a few minutes, and allows for early detection of any potential problems, allowing for vital help to be given to assist the development of the child’s language, speech and communication skills. 
 
However, babies with confirmed congenital cytomegalovirus (cCMV) or programmable ventriculo-peritoneal shunts should be excluded from screening and referred directly to audiology. Identification and treatment of cCMV within four weeks of birth can help to prevent hearing loss deterioration.
 

Should newborn screening be mandatory?

 
Currently in the UK newborn screening is optional and parents are offered an informed choice about screening for their baby. However, the World Health Organisation (WHO) guidelines consider newborn screening to be sufficiently important to override parental refusal, stating that “newborn screening should be mandatory and free of charge if early diagnosis and treatment will benefit the newborn”. 
 

What preventions are in place to stop babies from falling through the net?

 
A further IT system used is the Newborn Blood Spot Failsafe Solution (NBSFS) which is used by all maternity units across England. This system aims to identify and reduce the risk of babies missing or having delayed NBS screening, as babies affected by screened conditions can suffer serious harm if these conditions are detected late. 
 
An internal Great Ormond Street Hospital audit on bloodspot screening found that bloodspots were not always being completed within the five to eight day timescale and the rate of avoidable repeat screenings was 30%. The data showed the common reason for repeat screenings was because of missing patient information on the blood spot card. The NBSFS solution, along with other potential improvements, will hopefully ensure all eligible babies have successfully completed NBS screening within the appropriate time.
 

How can we help?

 
Leigh Day regularly represent the parents of children whose missed or delayed diagnosis of a screenable condition has resulted in a less favourable outcome for the child.  Early detection is key, and if diagnosis has been delayed then we may be able to assist with ensuring that things are put in place to improve the child’s prognosis and minimise the limitations on their quality of life.
 

Further information

 
Find out more about newborn screening on the NHS Newborn screening guide or on Public Health England Screening.

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