NCARDRS work programme

The National Congenital Anomaly and Rare Disease Registration Service (NCARDRS) is a comprehensive registration service that collects, and quality assures data about people with congenital anomalies and rare diseases across the whole of England.

There are between 6000 and 8000 rare diseases. Though they can present at any age, 75% affect children, and 30% of patients with rare disease die before the age of 5. Rare diseases can also present to virtually any medical speciality, making data collection difficult.

Congenital anomalies are defined as a condition present at birth and includes structural, chromosomal, genetic and biochemical conditions. Some congenital anomalies are detected during pregnancy, some are found at birth, while others are diagnosed only as a baby grows older. Most congenital anomalies are considered rare diseases.

NCARDRS was established on 1 April 2015 in response to the UK Rare Disease Strategy and the Chief Medical Officer’s recommendation to ensure nationwide coverage of congenital anomaly registration.

50 staff members work directly for NCARDRS with additional support functions provided by the wider National Disease Registration Service (NDRS) teams.

Find out about the NDRS, our teams and services.

The NCARDRS  team through their extensive work programmes:

• provide a resource for clinicians to support high quality clinical practice
• support and empower patients and carers, by providing information relevant to their disease or disorder
• provide epidemiology and monitoring of the frequency, nature, cause and outcomes of these disorders
• support all research into congenital anomalies, rare diseases and precision medicine including basic science, cause, prevention, diagnostics, treatment and management
• inform the planning and commissioning of public health and 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

Currently, there are two main data sets collected by the NCARDRS teams:

Congenital Anomaly Rails Application (CARA)

Our system manages several national data feeds which are collated to make a full patient record by our registration staff. The data feeds include but are not restricted to:

1. Badgernet data- Neonatal intensive care recording system
2. Ultrasound system data - Ultrasound reports from routine and non routine ultrasounds where a possible anomaly has been flagged.
3. Biochemistry and Non invasive prenatal testing – screening data from testing labs.
4. Specialised data – data from particular specialities/units such as cardiology, which diagnose and treat congenital anomalies and rare diseases.
5. Birth, treatment and death data – to help create a full patient record.

Germline molecular data set

The National Cancer Registration and Analysis Service (NCRAS) collects germline molecular data performed in individuals with a strong familial predisposition to cancer. Germline testing differs from somatic testing in that the molecular abnormalities detected are not restricted to the tumour but instead are present in every cell in the body, causing a high lifetime risk of developing cancer.

Pilot data collection work has focused on the BRCA1 and BRCA2 genes, with NCRAS leading and coordinating the contribution of England and Wales to the BRCA Challenge, an international collaboration to aggregate anonymised data on variants within the BRCA1 and BRCA2 genes on a global scale. The germline work is also being extended to include hereditary colorectal cancer predisposition syndromes and others.

NCARDRS produces outputs using registration data including annual data reports, data tables and briefings and peer reviewed articles for scientific journals.

Reports

The congenital anomaly statistics report is produced on an annual basis and provides details of prevalence, timing of diagnosis and outcome, key public health indicators and more detailed information on Down’s syndrome, Edwards’ syndrome and Patau’s syndrome. The first report was produced in July 2017 covering data for 2015. The latest report including national data for 2019 has recently been published.

National Fetal Anomaly Screening Programme (FASP) report for FASP and National Screening Committee (NSC). Covering 11 structural conditions and trisomy 21, the reports audits FASP screening at a national and regional level.

Hospital trust FASP reports – Covering 11 structural conditions and trisomy 21, the reports provides a tailored overview of their own case ascertainment and quality of reporting, together with outcome measures for the fetal anomaly screening programme (FASP). This report also allows for regional and national benchmarking to be undertaken. 

Spinal muscular atrophy type 1 report contains data on the incidence of spinal muscular atrophy type 1 (SMA1) based on Hospital Episode Statistics (HES), Office of National Statistics (ONS) mortality data and patient data held by the NCARDRS.

European surveillance: NCARDRS shares anonymised data with EUROCAT in order to pool data across a wider geographical area, make comparisons across Europe and share expertise. Data is then made available together with data from all other EUROCAT registries, on the EUROCAT website including:

• prevalence rates for just the English registers (registration required)
• prenatal detection rates
• key public health indicators (perinatal mortality, rates of terminations of pregnancy for fetal anomaly)
• statistical monitoring (clusters and trends)

Journal articles

1. Survival, by birth weight and gestational age, in individuals with congenital heart disease: A population-based study. Journal of the American Heart Association. 2017
2. Outcome of prenatally diagnosed congenital lung anomalies in the North of England: a review of 228 cases to aid in prenatal counselling. Prenatal Diagnosis. 2017
3. Risk estimates of recurrent congenital anomalies in the UK: a population-based register study. BMC Medicine. 2017
4. Development and progress of the National Congenital Anomaly and Rare Disease Registration Service. Archives of Disease in Childhood. 2017.
5. The National Congenital Anomaly and Rare Disease Registration Service. The Association for Clinical Biochemistry and Laboratory Medicine. 2018
6. Risk of congenital anomalies near municipal waste incinerators in England and Scotland: Retrospective population-based cohort study. Environment International. 2019
7. National disease registration in the genomic era. The Bulletin of the Royal College of Pathologists. 2019
8. Maternal risk factors for the VACTERAL association: A EUROCAT case-control study. Birth Defects Research. 2020

Explore the National Disease Registration Service (NDRS) scientific journal library.