Updated on 20/10/21

Extended Screening Policy

Turn around time & Quality standards 

The UK National Screening Committee sets national standards for newborn screening. Several of these relate to turn-around time and availability of results.

Midwives

• Timely receipt: Samples should be received by the laboratory in less than or equal to 3 working days after sample collection.
• Avoidable repeat rate: Acceptable level  ≤2.0%, Achievable level ≤1.0%.
• Timeliness of repeat sample collection:
  • Following a borderline CHT result, repeat samples should be collected 7-10 days after the initial sample. (Acceptable level: ≥ 80.0%, Achievable level: ≥ 90.0%)
  • Following a CF inconclusive result, samples should be collected at 21-24 days of age. (Acceptable level: ≥ 80.0%, Achievable level: ≥ 90.0%)

Laboratory

• Once the sample has been received by the laboratory, positive screening results for IMDs and CHT should be available and clinical referral initiated within 3 working days of sample receipt.

Receipt into clinical care:

• Babies in whom an inherited metabolic disease is suspected through newborn screening should attend their first clinical appointment by 14 days of age. Targets for babies in whom CHT, SCD or CF is suspected vary between 14 and 35 days of age depending on the number of samples collected and types of tests performed in the diagnostic algorithm. 

Timeliness of results to parents:

• Letters to parents from the child health record departments for babies in which NONE of the 9 conditions are suspected, must be sent at ≤ 6 weeks of birth, or ≤ 6 weeks of notification of movement into the area.

Laboratory Quality Assurance

Within our UKAS Accredited laboratory, we strive to provide results of excellent quality. To ensure that we continue to improve our service we hold regular quality meetings, perform a detailed annual audit and have annual governance regional meetings. We also participate in the following external quality assurance schemes:

• UKNEQAS for Newborn Screening (includes Phe, Tyr, TSH, IRT, C8, C10, C8/C10, C5, C5DC, Leu, Met)
• UKNEQAS Sickle cell screening

Reviewed on 20/10/21

It is important to inform us if there is a known family history of any of the diseases we currently screen for, including results of any prenatal testing. This avoids unnecessary duplication of follow-up or diagnostic testing, and helps avoid any confusion arising from screening results which might cause concern for the family. Please contact the laboratory with the mothers details and expected due date.

Inherited Metabolic Diseases (IMDs)

A new sibling born to the same parents when an index case with PKU, MCADD, MSUD, IVA, GA1 or HCU has already been identified has a 1 in 4 risk of having the same disorder. In these circumstances it is good practice to test earlier than the 5-8 day timeframe for newborn screening to avoid delays in diagnosis and to allay parental anxiety. However, this does not remove the need for routine screening and it is essential that the routine blood spot collection is undertaken between 5 and 8 days to screen for the other conditions tested for as part of the newborn blood spot programme.

The decision about when to test depends upon the conditions suspected; it is most pressing for disorders such as MSUD, MCADD and IVA which can potentially have an early neonatal presentation and may be at risk.

When to test and samples taken

(Write details on request/bloodspot card e.g. Family history of PKU, and courier to the laboratory using urgent/next day delivery)

Resources for IMDs

• Management guidelines which include prospective management for a baby at risk of an IMD at birth are available: BIMDG IMD Guidelines.
• 'MCADD: the importance of taking a family history.'
• BIMDG MCADD Clinical and Dietetic Management Guidelines.
• 'Keeping newborn babies with a family history of MCADD safe in the first hours and days of life', NPSA Alert Oct 2011

Sickle Cell Diseases (SCD)

The Sickle Cell and Thalassaemia screening programme is the world's first linked screening programme. Positive antenatal results are communicated to us by midwives and screening team personnel, using an alert form (available from local screening coordinators). This means we are prepared for any babies 'at risk' of Sickle Cell Disease and can tailor advice with parental history.

Please note, the CF screening programme is designed to detect babies who have cystic fibrosis and will not identify all CF carriers.

Reviewed on 20/10/21

Information for Healthcare Professionals

If babies are born before 32 weeks gestation or are admitted to a hospital specialist unit for other reasons, extra blood spot samples may be required to carry out the newborn screening tests. 

To ensure preterm infants are appropriately screened for CHT, all babies born at less than 32 weeks (less than or equal to 31 weeks + 6 days) should be offered a preterm repeat test at 28 days of age or discharge home, whichever is the sooner.

Babies less than 5 days of age should have a single circle bloodspot sample taken on admission/prior to blood transfusion to screen for SCD. The bloodspot card should be marked 'Pre-transfusion'.

Detailed instructions regarding sample collection from babies in specialist units can be found on pages 23-26 of 'Guidelines for Newborn Bloodspot Sampling'.

Access to Results

Designated clinicians will be informed immediately of any 'Suspected' results.

Certain healthcare professionals may access results via the Failsafe IT solution. If you are concerned that a baby has missed screening or that a sample has not arrived in the laboratory, please telephone or email us. Samples usually take several days to reach us in the post, although this is faster if a courier is used. One working day after they have been entered on our computer system they will appear on the failsafe shown as 'pending', these samples are undergoing analysis.

Please use the NHS number to search for babies, checking that the address shown matches your records as many babies have similar names, very similar dates of birth and surnames often change in the first few weeks of life.

The laboratory provides specialist services for allergy, autoimmunity and humoral immunodeficiency investigations.

Allergy Investigations
Testing for mixed and specific allergens is offered by the laboratory. Occasionally testing to very unusual allergens will be referred to a National Centre. Clinical history is paramount for allergy investigations to ensure that the correct investigations are performed.

Requests  for investigations of suspected anaesthetic anaphylaxis must include full details of the clinical event including anaesthetic type and the time post event that the sample was taken.

Autoimmunity Investigations
A comprehensive range of autoimmune investigations are provided including ANCA screening and typing, Anti Nuclear Antibody and Extractable Nuclear Antigen typing, Auto-immune liver disease, Anti GBM, ACHR, rheumatoid factor and CCP.

Immunochemistry and Specialist Protein Chemistry
A comprehensive range of Immunochemistry investigations are provided by the department. These include immunoglobulins, IgG subsets, C3/C4, C1 inhibitor, C3 nephritic factor, functional complement studies, serum/urine electrophoresis, paraproteins, and cryoglobulins.

Cellular Immunodeficiency investigations are provided by the Immunophenotyping Laboratory.

Last updated 01/02/2018

• Biochemistry in Primary Care
• Clinical Updates
• General Biochemistry
• Endocrine investigations
• Toxicology and TDM
• Inherited Metabolic Disease

Patient details should be telephoned through to the GP Support Team (GPST) on 0117 2449283 or to the Operations Centre on 0117 4140700. Depending on the time of day the referral is being made.

What to expect when the person you care for is ready to come home

We know how important it is for the patients we work with to be in hospital for as little time as possible.

This helps to reduce the chance of secondary infection while allowing them to return to a familiar environment and complete any recovery they may need. 

Throughout a patient’s treatment they have an assessment of their needs, for instance what help they may need with washing, dressing and eating food. If it is clear they require support in other areas a physiotherapist or occupational therapist may be asked to assess the patient. These assessments will then form a picture of what (if any) support the patient may need when they go home. 

If the patient has not previously had support from care workers, a social worker will be asked to review their case, develop and request a care package. If the patient has previously had a care package, this may continue unchanged or may be altered depending on the patient’s level of need. The nurse in charge will be able to advise on this. There may be a cost involved in providing a care package to the person you care for and the social worker will speak with you about this.

We understand the importance of carer involvement throughout this time so we will endeavour to include carers throughout the assessments detailed above and in the development of the final care package. 

Carers are able to request involvement in any assessments on the ward and to be included in any final care package.  If you no longer feel able to care, or feel you are no longer able to care as much, it is important you tell the nursing staff or social worker involved.

If you would like to access support during this time please contact one of the carers liaison workers.

What you need to know about getting information about the person you care for

As a Carer of someone who is in hospital, you may need information about the person you care for, and staff may want to speak to you to gather information about the person whom you care for. However, the law makes it very clear that social services and healthcare authorities have a duty to protect an individual’s confidentiality. Staff will seek the patient’s consent before discussing any information with a carer. If the person is unable to give consent, then the Mental Capacity Act will be followed.

Mental Capacity Act (2005)
The Mental Capacity Act (2005) is a process designed to protect individuals who are unable to make decisions for themselves. It covers anyone over the age of 16 and is in place because legally, no one can give consent for another adult, even if you are a family member.

If you care for someone who does not have capacity, there is a legal obligation that you are consulted about any decision that needs to be made, and that you are part of any best interest meeting that is held. Your opinion about any decision that needs to be made is valued, and will be taken into account when considering what action to take.

You can find out more about the Mental Capacity Act for Carers at www.nhs.uk/CarersDirect/moneyandlegal/legal/Pages/MentalCapacityAct

The Deprivation of Liberty Safeguards (DoLS) is part of the Mental Capacity Act and aims to protect an individual’s rights if they are unable to look after themselves.  They ensure that any restrictions placed on someone’s liberties in hospital, care homes or supported housing are done so lawfully, in the least restrictive way possible and with the person’s best interests in mind. The Alzheimer’s Society has some helpful information about DoLS.

The Carers Emergency Card is a free service for carers who live with the person they care for or visit them regularly at their home.

Carry this card in your purse or wallet as it identifies you as a carer, shows your name, a unique identification number and an emergency telephone number. If you have an accident/emergency or taken seriously ill, the card can be used to alert a 24 hours Emergency Call Centre that the person you care for needs help. 

If the person you care for lives within the South Gloucestershire Council area please contact Carers Support Centre on 0117 9652200 or email carersline@carerssupportcenttre.org.uk

If the person you care for lives within the Bristol City Council area please contact Care Direct on 0117 9222700 or email adult.care@bristol.gov.uk.

There are some added benefits to the Carers Emergency Card including discounts in shops and cafes, on therapies or attractions. You can find more information about what benefits are included with the Carers Emergency Card at www.carerssupportcentre.org.uk/our-services/carers-emergency-card/card-benefit-scheme or if you would like to speak to someone please contact CarersLine on 0117 9652200.

Carers have a valuable role to play in the care of our patients

When someone you care for needs to go into hospital it can be a worrying and stressful. Carers will have individual circumstances and variable skills that need to be taken account of when planning patient care. Please discuss your individual situation with the ward staff.

If you are admitted to Hospital

There may be times when you need to go into hospital. If possible, it is best to plan ahead so arrangements are put in place so the person you care for can continue to receive support.
If the person you care for lives in Bristol please call Care Direct on 0117 922 2700
If they live in South Gloucestershire please call the adult care team at South Gloucestershire Council on 01454 868007.

If you need to go into hospital in an emergency out-of-hours you can access support through the Emergency Duty Team on 01454 615 165 who cover South Gloucestershire and Bristol. 

The carers emergency card can also provide emergency care to the person you care for in emergencies. 

View an information leaflet from Carers Support Centre on the support for carers through GP practices and in hospital.

Carer Liaison Service - One to one support for you in hospital

Carer Liaison Workers are based at Southmead Hospital and can provide help, support and advice to carers through their hospital journey as a carer and/or patient, working directly on hospital wards and signposting to other services for support. They can liaise between the discharge team, ward staff and carers and their family, to help with any concerns or worries. 

The Carers Support Scheme

If you are a Carer who spends a minimum of three hours per day or 20 hours or more over a seven day period, in hospital providing support to a patient you may be eligible for the Carers Support Scheme.

The Carers Support Scheme recognises the vital role that unpaid Carers play in supporting both patient and ward staff whilst in hospital.
Through the scheme, Carers are entitled to:

• Access to staff restaurant – Carers can request an access pass to allow them to use the staff restaurant.
• Complementary Parking for the duration of the stay in hospital
• Support to stay overnight on a fold out bed or reclining chair
• Referral to the cares Liaison Support team

The care and support you may be providing could include; washing and dressing, feeding, falls prevention, reducing anxiety, emotional support and end of life care.

If you think you might be eligible speak to a member of staff on the ward who will be able to make an application for you. 

We are aware, however, that some carers do not wish to continue caring when the person they care for is in hospital and some carers choose to use this time as a period of respite. We will support carers with their choice.