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This guideline is applicable to all medical, nursing and midwifery staff caring for the newborn in the West of Scotland. It has been written to comply with the recommendations laid out in the QIS (Quality Improvement Scotland) Clinical Standards Document1 published in October 2005 and updated in July 20082. These standards aim to ensure that Newborn Blood spot screening is offered to all babies. The standards also aim to ensure that the collection of samples, laboratory testing and initiation of treatment in positive cases are completed efficiently so that affected babies achieve maximum benefit from early and appropriate treatment.
More detailed information for Healthcare Professionals is available at http://www.pnsd.scot.nhs.uk/newborn
Staff should also familiarise themselves with the contents of the updated information leaflets for parents:
From 20th March, 2017 the Scottish Newborn blood spot screening programme will include nine conditions:
QIS Standard 4b - All Women / Parents / Carers receive clear information (written or in other formats) to help them to make an informed choice about newborn screening.
CHT, metabolic, CF and SCD screening tests are offered for all babies between 96 and 168 hours of life.
QIS Standard 4a2
95% of positive CHT and PKU cases have started treatment by 14 days of age, unless deliberately delayed for further testing. QIS Standard 4e2
Local Arrangements to ensure that a blood spot specimen is obtained prior to a red cell transfusion
A protocol is in place for screening babies who are ill, transfused or born prematurely - QIS Standard 4a3
Repeat testing will be required in the following circumstances
NB – it is no longer necessary to repeat a sample from a baby who was not enterally fed at the time of the 5th day sample
Where a previous sibling is affected by one of these disorders, or the parental carrier status is known to put this infant at increased risk the baby may need to be managed differently. This varies according to the condition, as described below:
Risk - Siblings of a child known to have PKU will have a 1 in 4 risk, reducing to approximately 1 in 200 if one parent is a carrier and 1 in 100 if one parent is affected. It will be 1 in 2 where there is an affected parent and a carrier parent. The risk is 100% if both parents are affected.
Early testing (ie at 48 hours) may allow the parents of an affected sibling to know if their new child is affected or not a few days before the normal screening result becomes available. It may not however be as reliable as the day 5-8 test, and as there is no risk of neonatal disease, early testing should reserved for cases where there is significant parental anxiety expressed, and following counselling regarding the risk of a false negative result. For those families at lower risk or where there are mild (non-classical) elevations of then early testing is not recommended.
At 48 hours (optional)
Send 2 drops of blood on a newborn screening card for phenylalanine and tyrosine measurement to:
Department of Biochemistry, Queen Elizabeth University Hospital, 1345 Govan Rd, Govan, Glasgow G51 4TF
Write on newborn blood spot card ‘Family history of PKU'
Day 5 – 8:
Routine newborn screen (5 drops on a newborn screening card), write on newborn blood spot card ‘Family history of PKU’.
The baby should be breast fed or formula fed as normal. He is not at risk of becoming ill in the neonatal period
For further advice the attending metabolic consultant should be contacted via Yorkhill Switchboard during daytime hours.
Other inherited disorders of amino acid metabolism
For siblings of a child with one of the other inherited disorders of amino acid metabolism the risk is similarly 1 in 4. The case should be discussed antenatally with the metabolic team on an individual basis, and a plan of management clearly documented in the maternal notes.
This is rarely an inherited disorder so no specific measures need be taken unless specified antenatally. This should be specified on the paediatric section of the yellow alert sheet of the maternal notes.
Where both parents are carriers of Cystic Fibrosis this should be discussed antenatally and a plan made. The plan should be clearly documented in the paediatric section of the yellow alert sheet in the maternal notes.
In most circumstances cord blood is taken at birth and genetic testing for the parental CFTR mutations performed. For this to be successful, knowledge of the parental mutations is required, which should be dealt with antenatally if early neonatal testing is planned. If in doubt cord bloods can be taken, sent to the DNA lab in clinical genetics and stored pending discussion with the family and the attending consultant geneticist.
Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD)
Where there is a previously affected child/and or parental carrier status suggests an increased risk to an infant, guidance has been issued by the NPSA on neonatal management pending results of testing (http://www.nrls.npsa.nhs.uk/resources/type/alerts/?entryid45=132858). This advises that the specialist paediatric inherited metabolic disorder services be contacted antenatally and a post birth plan made. As with other disorders it is vital that this is highlighted in the paediatric section of the yellow alert sheet in the maternal notes.
The following generic advice has been taken from the newborn screening handbook and updated by the Inherited Metabolic diseases team.
Additional testing should be offered to siblings of a child known to have MCADD (1 in 4 risk) - or where there is an extended family history which causes concern. The risk to the infant is approximately 1 in 200 if one parent is a carrier and 1 in 100 if one parent is affected. It will be 1 in 2 where there is an affected parent and a carrier parent. The risk is 100% if both parents are affected)
When to test and samples taken
These should be sent to the local biochemistry lab (after telephoning), along with the request form in appendix 4.
Day 5 – 8:
Routine newborn screen (5 drops on a newborn screening card)
Write on newborn blood spot card ‘Family history of MCADD’
Prior to results
This baby is at risk of illness or death in the neonatal period. The aim of treatment is to prevent mobilisation of fatty acids by providing ample glucose - enterally or intravenously. It is essential to ensure that the baby maintains a good milk intake. A term baby should be fed every 4 hours and a preterm baby at least every 3 hours. Exclusively breast fed babies are particularly at risk in the first 72 hours when the supply of breast milk is poor; top up feeds of expressed breast or formula milk may be necessary in the first 48-72 hours until a good milk supply is established. If oral feeds are not tolerated, or if the baby is unwell in any way, urgent referral should be made to a paediatrician for review and consideration of nasogastric tube feeds or commencing intravenous glucose. It is not safe to base the management on monitoring of blood glucose as a baby may be seriously ill even if the blood glucose is normal. A baby should not be discharged until it is certain that he or she is feeding well.
Sickle Cell Disease (SCD)
Where both parents are Sickle Cell disease carriers, there is a 25% risk of the child being affected. This is of no clinical consequence in the neonatal period and so there is no clinical need for testing before the routine day 5 test. The latter should be carried out as normal, with a note on the test card regarding the family status to aid the screening laboratory.
In circumstances where there are particularly high levels of parental concern, consideration can be given to taking a blood spot for screening earlier (this must not be cord blood), but this is not encouraged. Testing should done only be after discussion with a consultant neonatologist, and it must be made clear that the routine day 5 test is still required to screen for other disorders. The card should be clearly marked as an early sample, and sent to the newborn blood spot screening lab, with the laboratory called in advance to discuss. Samples should not be sent to local haematology laboratories for analysis. A clear plan for feedback of results to the family must be made.
Positive results obtained through the routine (day 5) screening process will be dealt with by the screening laboratory with a direct referral to the haematology services in RHSC Yorkhill, or to genetic counselling services where carrier status is identified.
From the 12th of October 2015 the Scottish Screening laboratory has employed enhanced criteria for accepting blood spot samples, bringing the Scottish Screening laboratory into line with evidence based agreed UK national criteria for sample quality.
Why does the blood spot quality matter?
Good quality blood spot screening samples are vital for ensuring that babies with rare but serious conditions are identified and treated early. Poor quality samples can result in delayed referral and diagnosis of affected babies.
The most significant effects of poor quality samples are:
Falsely low analyte concentrations (false negative results), which can be caused by:
Falsely high analyte concentrations (false positive results), which can be caused by:
The Newborn Bloodspot Screening Card now has four circles instead of the previous five; the aim of this change in 2015 was to improve the quality of each circle.
Please remember that it is extremely important that the blood fills the circles and soaks through to the back of the card. If the bloodspots are too small or not soaked through to the back of the card it is very likely that the sample will have to be repeated.
Examples of samples- good and bad (NB – photos from old 5 spot screening cards)
Good quality samples:
Blood not soaked through to the back of the card:
This is where one spot of blood is layered directly on top of another, or the blood has been applied to one side of the card and then turned over and reapplied to the other side.
Sample placed in glassine envelope before it had completely dried:
Additional Local Arrangements for documentation
All Women /parents / carers are informed of the timescale within which the results will be made available and the format in which they will be communicated and by whom - QIS Standard 4c1
95% of results are issued from the laboratory to an appropriate health care professional within 2 working days of the receipt of the specimen by the laboratory - QIS Standard 4f2
All positive results are communicated to women / parents /carers as soon as possible after the screen and no later than 14 days from the specimen collection for PKU and CHT and 27 days from specimen collection for CF - QIS Standard 4c3
Currently there are no arrangements to communicate all screening results to the parents/carers. They should be told that the test results are available within 2 working days of receipt of the sample by the screening laboratory, and that they will be contacted directly if the screen indicates that repeat testing or further investigation is required. This contact would usually occur within 1-2 days of the screen result being obtained by the laboratory. It is important to ensure that accurate contact telephone details are obtained from parents at the time of testing.
Parent Information Leaflet - “Your Baby, Tests offered – Scottish Screening Tests” will be available from the Health Scotland Pregnancy and Newborn Screening Page
Leaflets for each of the specific conditions, and links to external patient support groups, are available at: www.newbornbloodspot.screening.nhs.uk/public
Blood spot Screening Consent Form – See Appendix 1
Parental Information leaflet to be issued when screening declined – See Appendix 2
Letter to GP informing them that screening has been declined – See Appendix 3
Who has Parental Rights?
The child’s father may have parental rights and responsibilities if:-
(1) he is married to the mother
(2) he is named as the father on the birth certificate
(3) he has been assigned parental rights by a court order
(4) the mother has sought a ‘parental responsibilities and parental rights agreement’.
Parental Responsibilities and Parental Rights Agreement (Scotland) Amended Regulations 2006.
Another person may have parental responsibilities if they have been appointed legal guardian by court order. However most other carers, whether they are relatives of the mother or foster carers assigned by social work, will not have parental rights. If a baby is going to be cared for by a person without parental responsibility consent should be obtained from the mother prior to discharge from the maternity unit.
Last reviewed: 07 September 2020
Next review: 01 September 2023
Author(s): Dr Helen Mactier – Consultant Neonatologist, PRM; Dr Allan Jackson - Consultant Neonatologist, PRM; Dr Andrew Powls – Consultant Neonatologist PRM
Co-Author(s): Sarah Smith – Newborn Screening Coordinator - Scottish Newborn Screening Laboratory; Liz Chalmers – Consultant Haematologist QEUH
Approved By: West of Scotland Neonatology Managed Clinical Network