European Platform on Rare Disease Registration

History and Funding

The National Congenital Anomaly and Rare Disease Registration Service (NCARDRS) was established by Public Health England in April 2015, with the aim of national registration of congenital anomalies and rare diseases.

Prior to this, congenital anomalies in England were registered by regional congenital anomaly registers across some areas of England, with birth coverage ranging from approximately 15% to 32% of births in England.

The key aims of the National Congenital Anomaly and Rare Disease Registration Service are to:

provide a resource for clinicians to support high quality clinical practice
support and empower patients and their carers by providing information relevant to their disease or disorder
provide epidemiological information by monitoring of the frequency, nature and outcomes of these disorders
support research into congenital anomalies and rare diseases and also precision medicine including basic science, cause, prevention, diagnostics, treatment and management
inform the planning and commissioning of public health and social care provision
provide a resource to monitor, evaluate and audit health and social care services, including the efficacy and outcomes of screening programmes.

Population Coverage

England: the total number of births in England in 2019 was 628 851.

NCARDRS is made up of 10 regions of England. The details on the parts of the country that had congenital anomaly coverage depending on the year and detail on each individual region of NCARDRS are presented below.

Originally known as the South West Congenital Anomaly Register (SWCAR), the register was established in January 2002 with funding from the NHS Regional Specialist Commissioning Group.

From April 2013 funding was instead provided by Public Health England, and in April 2015 SWCAR was formally transferred to Public Health England, becoming part of the National Congenital Anomaly and Rare Disease Registration Service.

South West is a full member of EUROCAT and has submitted continuous data to EUROCAT from the 2003 birth cohort.

The South West region includes Bath and North East Somerset, Bristol, Cornwall, Devon, Gloucestershire, Isles of Scilly, North Somerset, Plymouth, Somerset, South Gloucestershire, Swindon, Torbay and northern Wiltshire.

Birth population: 45 219 (2019 total births).

Originally known as the Wessex Ante-Natally Detected Anomalies Register (WANDA), the register was established in 1988 as a local database. In 1994 funding was obtained and the regional register established under the auspices of the Wessex Clinical Genetics Service. From April 2013 funding was instead provided by Public Health England, and in April 2015 WANDA was formally transferred to Public Health England, becoming part of the National Congenital Anomaly and Rare Disease Registration Service.

Wessex is a full member of EUROCAT and has submitted continuous data to EUROCAT from the 2000 birth cohort.

Between 1994 and 2014, NCARDRS Wessex covered the Wessex region of England from Salisbury in the North to the Isle of Wight in the South and from Dorcester in the West to Portsmouth in the East. The Isle of Wight was added in late 1996. The register also covers the Channel Island bailiwicks of Jersey and Guernsey (Guernsey in 2000 and finally Jersey in 2001).

Birth population: 27 133 (2019 total births).

Originally known as the Oxford Congenital Anomaly Register (OXCAR), the register established in 1991 with funding from the Department of Health.

In 2005 it expanded to include Berkshire and Buckinghamshire and was renames the Congenital Anomaly Register of Oxfordshire, Berkshire and Buckinghamshire (CAROBB).

From April 2013 funding was instead provided by Public Health England, and in April 2015 CAROBB was formally transferred to Public Health England, becoming part of the National Congenital Anomaly and Rare Disease Registration Service.

Thames Valley is a full member of EUROCAT and has submitted continuous data to EUROCAT from the 2005 birth cohort.

Thames Valley covers the counties of Oxfordshire, Berkshire and Buckinghamshire.

Birth population: 26 767 (2019 total births).

Originally known as the Northern Congenital Abnormality Survey (NorCAS), the register was established in 1985 with funding from the Healthcare Quality Improvement Partnership. From April 2013 funding was instead provided by Public Health England, and in April 2015 NorCAS was formally transferred to Public Health England, becoming part of the National Congenital Anomaly and Rare Disease Registration Service.

Northern is a full member of EUROCAT and has submitted continuous data to EUROCAT from the 2000 birth cohort.

Northern covers the North East of England and North Cumbria, this includes: North Cumbria, Northumberland, Newcastle upon Tyne, North Tyneside, Gateshead, South Tyneside, County Durham, Darlington and Tees. Until 1994, South Cumbria was included in the reporting area.

Birth population: 28 661 (2019 total births).

East Midlands and South Yorkshire data collection was started in 1997 and first submitted data to EUROCAT in 1997. There was a gap in data submissions from 2012 and they restarted in 2016 after the formation of NCARDRS.

East Midlands and South Yorkshire is a full member of EUROCAT and has submitted continuous data to EUROCAT from the 2016 birth cohort.

East Midlands & South Yorkshire region covers South Yorkshire and the counties of Derbyshire, Nottinghamshire, Lincolnshire, Leicestershire, Rutland and Northamptonshire.

Birth population: 67 364 (2019 total births).

Originally known as Yorkshire and the Humber Congenital Anomalies Register (YHCAR), the register was begun as a pilot data collection in 2011 and was funded by the local Primary Care Trusts.

Yorkshire is a full member of EUROCAT and has submitted continuous data to EUROCAT from the 2016 birth cohort.

Yorkshire and Humberside region covers North Yorkshire and York, east riding of Yorkshire, Bradford and Airedale, Leeds, Calderdale, Kirklees, Wakefield, Hull. From April 2013 funding was instead provided by Public Health England, and in April 2015 YHCAR was formally transferred to Public Health England, becoming part of the National Congenital Anomaly and Rare Disease Registration Service.

Birth population: 40 306 (2019 total births).

North West regional data collection was started in 2016 by a regional team following the establishment of NCARDRS.

North West is an affiliate member of EUROCAT and has submitted continuous data to EUROCAT from the 2018 birth cohort.

North West region covers Blackburn with Darwen, Blackpool, Bolton, Bury, Cheshire East, Cheshire West and Chester, South Cumbria, Halton, Knowsley, Lancashire, Liverpool, Manchester, Oldham, Rochdale, Salford, Sefton, St Helens, Stockport, Tameside, Trafford, Warrington, Wigan and Wirral.

Birth population: 77 519 (2019 total births).

London and South East data collection was started in 2016 by a regional team following the establishment of NCARDRS.

London and South East is an affiliate member of EUROCAT and has submitted continuous data to EUROCAT from the 2018 birth cohort.

London and the South East Region covers London and the counties of East Sussex, Kent, Surrey and West Sussex.

Birth population: 166 000 (2019 total births).

East of England data collection was started in 2016 by a regional team following the establishment of NCARDRS.

East of England is an affiliate member of EUROCAT and has submitted continuous data to EUROCAT from the 2018 birth cohort.

The East of England region covers the counties of Norfolk, Suffolk, Cambridgeshire, Bedfordshire, Essex, Hertfordshire.

Birth population: 67 629 (2019 total births).

Sources of Ascertainment

Notifications are received from the following hospital departments and regional services: Ultrasound, Fetal Medicine, Fetal Cardiology, Regional Cytogenetics Labs, Regional Pathology (Postmortem Reports), Regional Cleft Services, Delivery Suites, Gynae Wards, Neonatal Intensive Care Units, Paediatricians, Physiotherapy, X-ray, Specialist departments e.g. paediatric nephrology and urology, orthopaedics, clinical genetics, cardiology; Child Health Systems (SD56s); Hospital Trust Informatics Departments using ICD 10 codes; Direct Access to regional tertiary hospital clinical systems via remote access, including maternity systems, fetal medicine, neonatal intensive care, radiology, clinical documents, congenital cardiac system.

Primarily reliant on notifications by individual clinicians and also on bulk datasets of cases from cytogenetics, hospital informatics departments, clinical software information system extracts and extracts from routinely collected national data such as routine hospital admission statistics (Hospital Episode Statistics) and those collected by the UK Office for National Statistics.

Where possible, remote access to tertiary hospital clinical systems is used to follow up cases and supplement the information notified to the Register; follow up information is also requested from notifying clinicians where relevant and where remote access is not in place.

Maximum Age at Diagnosis

There is no upper age limit.

Terminations of Pregnancy for Fetal Anomaly (TOPFA)

When a fetal anomaly has been detected, the pregnancy can be terminated before 24 weeks of gestation under Grounds 1(1)(a) of the Abortion Act. After 24 weeks pregnancies may only be terminated under Grounds E: physical or mental abnormalities giving a substantial risk that the child if born would be severely handicapped.

Cases are ascertained from individual notifications from providers, including fetal medicine consultants, midwives and obstetricians; perinatal post mortem reports where undertaken. Cases are also ascertained from bulk data extracts from laboratory providers, clinical software systems and national data collections.

Stillbirth and Early Fetal Deaths

The definition of “stillborn child” in England and Wales is contained in the Births and Deaths Registration Act 1953 section 41 as amended by the Stillbirth (Definition) Act 1992 section 1(1) and is as follows:

"a child which has issued forth from its mother after the 24th week of pregnancy and which did not at any time breathe or show any other signs of life".

The Royal College of Obstetricians and Gynaecologists has published a good practice note [including] a statement on the interpretation and implementation of registration law where it is known that a fetus has died in the womb before 24 weeks but is expelled from the mother after 24 weeks:

"…the legal advisors for the Department of Health and the Office for National Statistics have agreed that a fetus that is expelled after 24 weeks of pregnancy, provided it was no longer alive at the 24th week of pregnancy (this fact being either known or provable from the stage of development reached by the dead fetus), does not fall within the category of births to be registered as stillbirths under the above Acts".

NCARDRS registers all notified cases of spontaneous abortion with congenital anomaly, with no gestational limit. Information is obtained from sonographers, fetal medicine units, midwives, and pathology services where post mortems are conducted.

Exposure Data Availability

Information is collected where it is available (not on every case) on occupation of mother, assisted conception, maternal illnesses, folic acid supplementation and drugs taken during the first trimester.

Denominators and Controls Information

Data on the total number of births and by maternal age group are available from the Office for National Statistics (ONS). No control information is collected.

Registry Description References

Stevens, S., Miller, N., & Rashbass, J. (2018). Development and progress of the National Congenital Anomaly and Rare Disease Registration Service. Arch Dis Child, 103(3), 215-217. doi:10.1136/archdischild-2017-312833.

Ethics & Consent

The NDRS has legal permission to collect patient data to use it to protect the health of the population. Previously this permission was granted to Public Health England under section 251 of the National Health Services Act 2006. From 1 October 2021, permission is now provided to NHS Digital under legal instructions known as Directions, from the Secretary of State for Health and Social Care, under section 254 of the Health and Social Care Act 2012 (2012 Act).

The Directions are called the National Disease Registries Directions 2021. They instruct NHS Digital to collect and use confidential patient information to operate the NDRS including the NCARDRS . Personal data is collected without the individual’s consent. The common law duty of confidentiality is met when NHS Digital collects and analyses confidential patient information for NCARDRS because compliance with a legal obligation (the Directions) provides a defence to a breach of confidence claim.

NDRS publishes and distributes a range of accessible privacy information materials in order to inform patients and parents about its activities. The service respects the right of data subjects to object and optout of the NDRS including NCARDRS as a matter of Policy.

Address for Further Information

Dr Sarah Stevens, NCARDRS Lead
NCARDRS,

NHS England

Tel: +44(0)117 986 9236
Email: sarah.stevens1@nhs.net

Last updated: 03.03.2023

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England - NCARDRS