Newborn Screening

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