Regional Newborn Screening

The area we cover:

The Regional Newborn Screening laboratory at Sheffield Children’s Hospital screens all babies (approximately 75,000 per year) born in the East Midlands, South Yorkshire and North East Lincolnshire portion of the Yorkshire and Humber.
Derbyshire, Leicestershire, Lincolnshire, Northamptonshire, Nottinghamshire, Rutland, South Humberside and South Yorkshire.

The service is also provided for babies born in Gibralter (approximately 400 per year).

What we screen for:

All newborn babies are screened, using dried blood ("Guthrie") spots, collected between 5-8 days of age, usually by midwives, for five disorders (as shown in Table1):

Phenylketonuria (PKU)

Congenital hypothyroidism (CHT)

Cystic fibrosis (CF)

Medium chain acyl CoA dehydrogenase (MCAD) deficiency

Sickle cell disorders (SCD)

 
 
Table 1. Methods used for screening - gives information on the methodologies used for newborn screening. Further detail on screening algorithms and protocols can be found on the UK Newborn Screening Programme Centre (UKNSPC) website.

Written information about the disorders

The NHS Screening programmes Antenatal and Newborn “Screening tests for you and your baby” booklet is given to parents by the local midwife before sample collection and is available on the UK Newborn Screening Programme Centre (UKNSPC) website and on the UK National Screening Committee website. Further specific information for Sickle Cell Disorders is available on the NHS Sickle and Thalassaemia Screening Programme website.

Dietary monitoring service for PKU patients

The laboratory also provides a dietary monitoring service for PKU patients, measuring phenylalanine in dried blood spots collected by the patients at home (approx 2300 samples per year). Information to support people with PKU and their families and carers can be found on the National Society for Phenylketonuria (NSPKU) website. 

The Newborn Screening Laboratory Staffing

The Newborn Screening Laboratory is a section of the Department of Clinical Chemistry with a Consultant Scientist Head of Department, the Director of Newborn Screening, Dr J R Bonham and is headed by a Lead Clinical Scientist, the Deputy Director, Ms M Downing. Dr Bonham and Ms Downing are members of the UK Newborn Screening Laboratory Network(UKNSLN).
 
Scientific and senior technical staff in Newborn Screening are engaged in additional duties throughout the department, particularly in the Metabolic section and senior technical staff participate in the routine out of hours on call service. Two clinical nurse-specialists operate from the laboratory.
 
All staff receive an annual appraisal and participate in professional development.
Registered scientific staff participate in the Royal College of Pathologists CPD scheme.

Screening Nurse Specialist Service

Two clinical nurse-specialists operate from the laboratory and are responsible for liaison with patients, their families, midwives, health visitors, and other workers in the community.  Their main functions are ensuring quality and reliability in specimen collection, midwife education, and support for patients and their families. The latter is particularly in relation to PKU patients (providing lifelong support including trying to ensure female PKU patients resume diet before embarking on pregnancy), short term support at referral for suspected cases of MCAD deficiency and home visit reporting of cystic fibrosis carriers.

The Newborn Screening Programme: Organisation and Management

The organisations involved in newborn screening and the information flows are outlined in Figure 1. The laboratory provides results to 17 Child Health Records
Departments (CHRD): Barnsley, Bassetlaw (Retford /Worksop), Derbyshire North (Chesterfield)  Derbyshire South (Derby), Doncaster, Goole (E.Yorks), Grimsby, Kettering, Leicester, Lincolnshire North (Lincoln), Lincolnshire South (Sleaford), Northampton, Nottingham, Nottinghamshire North (Mansfield), Rotherham, Scunthorpe and Sheffield.  

Regional Antenatal and Child Health Screening Teams

The Regional Antenatal and Child Health Screening Teams advise on and support, at regional level, the NHS National Screening Committee (NSC) antenatal and child health screening programmes. The Newborn Screening Laboratory works closely with the two Regional Antenatal and Child Health Screening Teams of the East Midlands SHA and the Yorkshire & Humber Strategic Health Authority (SHA), which cover its area of operation. This is particularly in relation to screening implementation and performance management. For more information on these Teams please see the National Screening Committee Website or contact the respective managers:

East Midlands

Alison Cryer or deputy Caroline Midgely.

Yorkshire and Humberside

Jill Walker or deputy Pam Tarn.

 

 

Ms Melanie Downing

Lead Scientist and Deputy Director

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  Newborn Screening Staff