The department of Clinical Biochemistry provide the Newborn Bloodspot Screening service for a large part of the South West Region. Testing is undertaken on filter paper bloodspots which are collected from babies between 5 and 8 days of age. Our UKAS accredited laboratory currently screens approximately 42,000 babies each year for nine conditions:

• Sickle cell disease (SCD)
• Cystic Fibrosis (CF)
• Congenital Hypothyroidism (CHT)
• Inherited Metabolic Diseases:
  • Phenylketonuria (PKU)
  • Medium-chain acyl-CoA dehydrogenase deficiency (MCADD)
  • Maple syrup urine disease (MSUD)
  • Isovaleric acidaemia (IVA)
  • Glutaric aciduria type 1 (GA1)
  • Homocystinuria (pyridoxine unresponsive) (HCU)

Early detection through screening and prompt treatment significantly reduces the morbidity and mortality associated with these conditions.
The newborn screening bloodspot programme is provided in close collaboration with health care professionals throughout the region.

Information for public and professionals regarding the SCID evaluation.

Screening for SCD is provided with the department of Haematology at North Bristol NHS Trust (NBT) and Cystic Fibrosis with the Bristol Genetics Laboratory

The screening laboratory works very closely with the South West Regional Metabolic Biochemistry laboratory which provides diagnostic testing to support the newborn screening programmes and monitoring of patients identified though the Inherited Metabolic Disease screening programmes. Bloodspot testing for PKU, hypothyroidism (TSH) and a monitoring service for Congenital Adrenal Hyperplasia (17-OHP) is also available.

In early 2014 we began uploading all of our results to the Newborn Blood Spot Failsafe Solution (NBSFS). This is a national web-based solution which allows maternity units, child health record departments, and screening laboratories to verify the screening status of any baby registered in England. It enables easy early identification of those babies who have had no blood spot card received in the laboratory, making it less likely that any babies will miss screening, and also promotes timeliness of repeat sampling.

Laboratory Visits

We offer half-day training sessions to midwives, health visitors, dieticians, nurses, doctors and other healthcare professionals involved in the collection of bloodspots. Please contact us to arrange a visit.

Please see below for responses to our most recent user survey

Key Contacts

Dr Helena Kemp
Director of Newborn Screening & Consultant Chemical Pathologist
Telephone: 0117 4148425

Maryam Khan
Principal Clinical Scientist
Telephone: 0117 4148418

Emma Smith-Thomas
Senior Clinical Scientist
Telephone: 0117 4148427

Dr Sophie Otton
Consultant Haematologist
Telephone: 0117 4148359

Grace VanDerMee
Lead Biomedical Scientist - Haematology
Telephone: 0117 4148356

Rebecca Whittington
Principal Clinical Scientist - Genetics
Telephone: 0117 4146175

Clare Le Masurier
Senior Biomedical Scientist
Telephone: 0117 4148430

Bryony Wright
Senior Biomedical Scientist
Telephone: 0117 4148346

The Metabolic Biochemistry Laboratory (previously Biochemical Genetics) at Southmead Hospital provides a regional diagnostic and monitoring service for the investigation of inherited metabolic diseases. Routine analyses performed include urine organic acids (including quantitative methylmalonic acid, if required), bloodspot/plasma acylcarnitines (including free carnitine), plasma/urine/CSF quantitative amino acids, qualitative galactosaemia screening test, plasma free fatty acids and 3-hydroxybutyrate.

In addition, the laboratory provides specialist testing for the investigation of peroxisomal disorders (plasma very long chain fatty acid analysis, including pristanic and phytanic acids), Smith-Lemli-Opitz syndrome (plasma 7-dehydrocholesterol and 8-dehydrocholesterol)

The Metabolic Biochemistry department is a Centre for Galactosemia investigations and offers a variety of tests for the diagnosis and monitoring of disorders of galactose metabolism including:

• first line galactosaemia screens,
• quantitative galactose-1-phosphate uridyltransferase activity for confirmation of classical galactosaemia;
• urine galactitol for screening and monitoring of galactokinase deficiency or screening for classical galactosaemia if infant has been transfused; 
• galactokinase activity for confirmation of galactokinase deficiency;
• galactose-1-phosphate for monitoring treatment of classical galactosaemia.

The Metabolic Biochemistry Laboratory at Southmead Hospital is a member of the UK National Metabolic Biochemistry Network (MetBioNet). 

The Metabolic Biochemistry laboratory works very closely with the Southwest Newborn Screening Laboratory to aid in the diagnostic testing to support the newborn screening programmes and monitoring of patients identified though the Inherited Metabolic Disease screening programmes. Bloodspot monitoring for PKU (Phenylalanine and tyrosine) and CAH (17-OHP) for known patients and testing for hypothyroidism on bloodspot (TSH)

We provide a comprehensive advisory service and welcome enquiries to discuss appropriate patient investigation and result interpretation. Clinical and laboratory advice is available during working hours, via contacts listed.

Details of Sample Requirements and Transport can be found under “Requesting” and “Test Information” via the menu at the top of this page.

For any urgent analyses or additional testing on samples already received, please telephone the laboratory to discuss.

(Source: CSF amino acid reference intervals from the Cardiff Working Group, MetBioNet)

User Handbook

Request form

User Survey

Useful Links

National Metabolic Biochemistry Network (MetBioNet)
British Inherited Metabolic Diseases Group
Cardiff Porphyria Service

Within North Bristol NHS Trust (NBT)

• Samples for Blood Sciences: (Biochemistry, Haematology and Immunology) and Infection Sciences: (Bacteriology, Virology, Antimicrobial assays (ARL) and Mycology (MRU)) should be sent via the air tube unless the sample type/reason appears in the list below.
• Samples that MUST NOT be sent via the air tube include:
  • Urine for TB or suspected TB.
  • Viral haemorrhagic fever.
  • Histology or cytology.
  • Category 4 microbes.
  • Volumes over 100ml.
  • Samples which need to remain frozen (e.g. via dry ice).
  • Samples which need to be kept warm - special flasks are available for the transport of samples which have essential requirements to be kept warm (i.e. cryoglobulins, patients with cold agglutinins) - contact the Immunology or Haematology departments for these.
• Samples for COVID-19 can be sent via the air tube, but these MUST be double-bagged, sealed and sent in a new leak-proof carrier.
• Blood components and products will be transported in an appropriate, validated container packed by the Transfusion Laboratory.For Primary Care locations where Pathology Services are provided by North Bristol NHS Trust (NBT)
• Sample Transport Rules for Couriers and Porters.pdf141.5 KB

Sample collections from external locations (e.g. primary care, community) are made by the Pathology’s appointed medical courier Delivery Direct Logistics (DDL). For queries regarding this service please email Allison Brixey, Blood Sciences Manager, Allison.Brixey@nbt.nhs.uk.

This information is for patients referred to the the Adult Hydrocephalus team at North Bristol NHS Trust as a brain scan has shown features of Normal-Pressure Hydrocephalus. 

What is Normal-Pressure Hydrocephalus (NPH)?

Cerebrospinal Fluid (CSF) is produced continually in the ventricles (cavities of the brain). Normally CSF circulates through the brain acting as a protective cushion and providing nutrients. NPH affects people aged over 60 and happens when the fluid becomes poorly absorbed, causing an abnormal amount of CSF to build up in the ventricles. This does not cause high pressure in the brain, but it does affect its function, and a person’s quality of life. 

What are the symptoms? 

Mobility and balance

• Difficulty taking large steps, and shuffling when walking.
• Unable to turn quickly due to losing balance.
• Falling backwards, sometimes when getting out of a chair.
• A general feeling of unsteadiness when walking.

Memory and thinking

• Slowness in thinking, and problems with attention.
• Memory difficulties.
• Changes in behaviour, loss of motivation.
• Worsening mood, depression, and anxiety.

Urinary incontinence

• Increased urgency to pass urine (go to the toilet).
• Sudden leakage of urine.
• Not making it to the toilet in time.

Why am I being referred to the Adult Hydrocephalus team? 

You were referred by a specialist doctor or GP following a brain scan which may have shown features of NPH. We are a team of skilled nurses, doctors, advanced clinical practitioners, physiotherapists, and neuropsychologists. We will do multiple assessments (walking and memory tests) to see if you would benefit from further assessment and treatment by our team. 

Physiotherapy-led prehab service

Before being seen in the Hydrocephalus Clinic, we offer patients the opportunity to discuss the diagnosis with a Specialist Physiotherapist. We will phone you once your referral has been accepted and can advise you on lifestyle choices you can make to optimise your health while waiting for your face-to-face review.

If you feel you need further advice, you can phone the hydrocephalus advice line on 0117 414 6613. This is for non-urgent queries.

How is it diagnosed? 

You have been  directed to this page as we suspect you have NPH but the diagnosis has not been confirmed.

NPH is a clinical diagnosis that cannot be confirmed with brain imaging (scans) alone. We need to do other tests to confirm the diagnosis.

Lumbar drain

A lumbar drain is a procedure that allows us to see if your symptoms are improved by temporarily removing cerebrospinal fluid (CSF) from your brain. 

The lumbar drain is a piece of flexible tubing that is inserted into the lower part of the spinal canal. The tubing is connected to a drain which allows us to control how much CSF is drained. If you benefit from the drain, you may be considered for a permanent shunt. 

Not everyone is suitable for a lumbar drain, we will review your brain imaging, and if this is the case we will discuss alternative options with you. 

 

 

CSF shunting

A tube is inserted that diverts fluid from the ventricles of the brain to the abdomen through a small valve. This is connected to another tube passed under the skin to the abdomen. This valve can be adjusted to control the flow of the fluid from your brain. 

We will the reassess your symptoms through various tests to confirm if the procedure has been beneficial. At this stage we will be able to confirm the NPH diagnosis. 

Follow-up

If you do have a CSF shunt inserted you will be followed up regularly to assess your progress and make sure your symptoms are improved.

During these appointments we complete walking and memory tests to monitor for changes in your symptoms.

What can I do whilst on the waiting list for assessment? 

Due to the symptoms of NPH, you may find it more challenging to do your day-to-day activities such as going to the shops, going on walk, engaging in hobbies, and social activities. However there are certain things you can do to help maintain your physical health during this time. 

Physical activity

Incontinence

Memory and cognitive impairment

Family and friends

We recommend including your family and friends in this process, showing them this page may help them understand the condition and how the symptoms affect your life.

If you have any further questions or concerns at any stage in the process, please contact the Adult Hydrocephalus team on the details below. If it is out of hours, please contact your GP or local Emergency Department.

How to contact us

© North Bristol NHS Trust. This edition published November 2024. Review due November 2027. NBT003702

This information is for patients who have been referred for a FEES examination. This page explains the process. 

What is FEES? 

FEES (Fibreoptic Endoscopic Evaluation of Swallowing) is an examination that looks at how you swallow. It aims to find out how your muscles work when you swallow and what might be causing you any difficulties.

How will this help?

We use FEES to understand and help with swallowing problems. It allows us to see whether:

• Food, drink, or saliva is going down the wrong way (into your airway).
• Some food and drink consistencies are easier for you to swallow than others and why.
• Your swallowing difficulties can be helped by altering the position of your head or body.
• There are any other changes we can recommend that may help you.

How is this done?

Two Speech and Language Therapists (SLT) will do the procedure while you are sitting down. A small, lubricated, flexible camera will be placed into one nostril. When the end of the camera is passed just beyond the back of the nose, we get a clear view of your throat. You will be able to see the images if you choose.

We make a recording of the images so we can analyse it afterwards.

You may be given some food and drink. This is dyed with blue/green food colouring to help us see it. This is usually: 

• Milky water.
• Fruit puree.
• Cake.
• Biscuit.
• Thickened drink.

If you have any food allergies or strong food dislikes, please tell your Speech and Language Therapist. You may bring in alternative food if you choose to. This part of the appointment will take up to 30 minutes.

Is the procedure safe? 

The procedure is safe with a low risk of complications or side effects.

Is it uncomfortable? 

Passing the camera through the nose can sometimes cause mild to moderate discomfort. The Speech and Language Therapist will reassure you through throughout the procedure. Local anaesthetic will not be used as this will affect your swallow. 

What happens next?

The Speech and Language Therapists will analyse the images whilst you wait in the waiting area. This could take up to to 30 minutes. You will then be invited back in to discuss what we have seen. 

We will also speak with you about what the results mean for your swallowing. You will leave with a summary of this information and a plan for follow-up if needed.

You can go home immediately after the appointment. The procedure should not affect your ability to drive.

How long does it take?

The whole appointment (including assessment and advice) should take no more than 90 minutes. Please be patient if there are any delays, we will keep you informed if this is it the case. 

Can I eat before my appointment?

Unless you have been advised otherwise, you can eat and drink a light meal before your appointment. If you are currently feeding through a tube, you can take your feeds as normal.

What happens after I leave?

Detailed results will be sent to all relevant healthcare professionals involved in your care. 

What do you do with the recordings? 

The images are saved electronically and kept securely for 8 years. 

Where can I find more information? 

If you have any questions, please contact your Speech and Language Therapist. 

When and where is the appointment?

Your appointment will be at:

Gate 36 (Pink Zone)
Brunel building
Southmead Hospital

You will receive a letter/email with the time and date.

Cancelling an appointment

Please tell us as soon as possible if you need to cancel your appointment by phoning the Speech and Language Therapy Department on 0117 414 5130.

© North Bristol NHS Trust. This edition published December 2024. Review due December 2027. NBT003751

Aciclovir

Amikacin

Benzylpenicilin (Penicillin G)

Chloramphenicol

Ciprofloxacin

Colistin

Cycloserine

Daptomycin

Ethambutol

Flucloxacillin

Fluconazole

Flucytosine

Ganciclovir

Gentamicin

Isavuconazole

Isoniazid (+ N-Acetyl-Isoniazid)

Itraconazole

Levofloxacin

Linezolid

Meropenem

Moxifloxacin

Posaconazole

Rifabutin

Rifampicin

Streptomycin

Sulphamethoxazole in (Co-trimoxazole)

Teicoplanin

Tobramycin

Trimethoprim in (Co-trimoxazole)

Vancomycin

Voriconazole

Video Transcript

Interested in taking part?

To view the Patient Information leaflet and Consent form, please visit the study website.

The Research Development & Grants Team can provide you with a range of support at every stage of your grant application/project development.

Please contact ResearchGrants@nbt.nhs.uk at the earliest opportunity. 

Grant development support includes:

• Advising on the most appropriate funder/funding stream
• Deciding which institution will Host and Sponsor your grant
• Advising on and facilitating Public and Patient Involvement & Engagement
• Signposting to wider support services
• Supporting collaborations
• Liaising with external organisations/companies and obtaining external costs
• Providing a full grant costing for non-commercial and investigator-led projects. This includes NHS site costs (and supporting your SoECAT submission, where applicable). 
• Critical, pre-submission reviews
• Feasibility sense checks
• Support statements
• Intellectual Property advice
• Proof reading
• Online application form entry

It takes time to fully develop a research project and to cost a grant accurately. All requests to NBT to cost a research grant application must be made well in advance of the funder’s submission deadline. The time required to achieve a high-quality submission can depend greatly on the type of funder and project.

We recommend that you contact the Research Development & Grants Team at ResearchGrants@nbt.nhs.uk, at the earliest opportunity – as soon as you begin to develop a research project – so that we can provide you with the most comprehensive support. 

Once your project is funded, our team can support you with grant set-up and management. This includes: contracting, financial management, protecting Intellectual Property, reports and external communications.

The Research & Development Office administer a number of internal funding opportunities. 

These are available to all NBT staff with a research idea that they want to develop into a project. 

We frequently make awards for small research projects, as well as personal awards for those wanting to pursue a career including research. Below are some of the funding options currently available. 

To apply, or for more information, contact: ResearchGrants@nbt.nhs.uk.

Research Capability Funding (RCF)

Funding to back-fill your time to develop research ideas into funded grants

Research Capability Funding (RCF) is a research funding stream made available by the National Institute of Health Research (NIHR) to help research-active NHS organisations attract, develop and retain high-quality research, clinical and support staff. North Bristol NHS Trust (NBT) has two rolling calls for applications, as well as an annual Research Infrastructure call: 

Early Career/Early-Stage Research Funding – Open for Applications

Standard Call

Funding for delivering small research projects

NBT R&D Strategy recognises the importance of building research capacity. Therefore, funds from centralised charitable donations continue to support the Southmead Hospital Charity Springboard Research Fund.

Southmead Hospital Charity Springboard Research Fund

Finding breast cancers early saves lives. 

We know that the earlier a breast cancer is diagnosed the better the outcomes for that patient. Mammograms (a type of breast x-ray) have been used for many years to check for breast cancers but may not always find cancers early enough to be helpful.  We would like to try out a new method of MRI, called “FAST MRI”. 

It is like the MRI scans you may have heard of or experienced, but takes much less time, about 3-5 minutes, which would make it suitable to offer to many more people.

What is the FAST MRI DYAMOND study? 

DYAMOND will test if a FAST MRI scan can detect cancers not seen on mammogram, in women with average density breasts. 

1000 women will be invited for a FAST MRI if:

• they are aged around 50-52, 
• their mammogram is clear 
• their breast density is “average” (a computer measures this from mammogram images) 

Stage 1 - Patient Information

Who can take part?

Do I have to take part?

Stage 2 - Patient Information

Why have I been asked to take part in this study?

Do I have to take part?

What does taking part involve?

What do I do next if I am interested in taking part?

What would stop me from having a FAST MRI scan?

What is it like to have a FAST MRI scan?

How will you get the results of your FAST MRI?

What are the possible benefits of taking part?

What are the possible disadvantages and risks of taking part?

Will my GP be informed that I am taking part in the FAST MRI DYAMOND study?

Expenses and payments

Further information about the FAST MRI DYAMOND study

In this study we will use information from you and from your medical records. We will only use information that we need for the research study. We will let very few DYAMOND team members know your name or contact details, and only if they really need it for this study. This includes research staff at Royal Surrey Hospital who are providing the Consent Form website. Everyone involved in this study will keep your data safe and secure. We will also follow all privacy rules.  At the end of the study, we will save some of the data for up to 5 years after the study closes, in case we need to check it and for future research (if you have given us permission). We will make sure no-one can work out who you are from the reports we write. Please contact us on the details below for more information about this. 

This study is run by Dr Lyn Jones (Consultant Radiologist) at the FAST MRI Programme Team at North Bristol NHS Trust.