NCARDRS Congenital Condition Official Statistics Report, 2022

Aetiology

The cause, set of causes, or manner of causation of a disease or condition, such as genomic.

 Age at delivery

Age at delivery is used throughout the report and refers to the woman's age at the end of the pregnancy.

 Antenatal

The period from conception to birth.

Ascertainment

Proportion of notifications of congenital conditions reported to NCARDRS out of all cases of congenital conditions in the population.

 Baby/Babies
 

Baby/Babies is used throughout, from the early stages of pregnancy through to the neonatal period and refers to all pregnancy outcomes; live births, stillbirths, late miscarriages between 20-23 complete weeks and terminations at any gestation.

Confidence interval (CI) 
 

Expresses the uncertainty of a statistic as a range in which the true value would be expected to be found on repeated sampling. Estimates with non-overlapping confidence intervals are considered statistically significantly different.

(see Technical details for more information)

Congenital condition

A condition present at delivery, originating before birth, and includes structural, chromosomal, genomic, and biochemical conditions.

EUROCAT
 

European Surveillance of Congenital Anomalies – European network of population-based registries for the epidemiological surveillance of congenital anomalies.

NHS Fetal Anomaly Screening Programme (FASP)

National Health Service (NHS) screening programme for specified structural and chromosomal conditions during pregnancy using laboratory and/or ultrasound tests.

Genomic conditions

Includes genomic syndromes, hereditary skin disorders, skeletal dysplasias and chromosomal conditions as defined by EUROCAT. In line with updated terminology, conditions that were previously described as “genetic” have been renamed “genomic” throughout the report.

Index of Multiple Deprivation (IMD)

The Index of Multiple Deprivation (IMD) 2019 is the official measure of relative deprivation for small areas in England. IMD ranks every small area in England from 1 (most deprived area) to 32,844 (least deprived area).

Infant deaths

Deaths from birth to under 1 year of age as recorded by Child and infant mortality data from the ONS.

Infant mortality

The number of infant deaths per 10,000 live births. 

Integrated Care Board (ICB)

Integrated Care Boards (ICBs) are statutory organisations. There are 42 ICBs across England, each responsible for bringing together local NHS organisations and councils to plan and deliver improved health and care services for the populations they serve.

Late miscarriage
 

Late fetal deaths from 20 to 23 completed weeks of gestation.

Live birth

A baby showing signs of life at birth as recorded by the Office for National Statistics.

Live birth prevalence of congenital conditions

The total number of babies diagnosed with a congenital condition that are live born compared to the total number of live births.

Major congenital condition subgroup

The high-level body system and condition type groupings of congenital conditions as defined by the NCARDRS modified version of EUROCAT’s subgroups.

(see the Condition inclusion subgroups ICD-10 list for more information on these subgroups).

Maternity Services Data Set (MSDS)

The Maternity Services Data Set (MSDS) is a patient-level data set that records maternity care activity for the woman and baby(ies), covering the period from the initial booking appointment to discharge from the service.

Non-genomic conditions
 

Conditions in babies with no known genetic condition. Not all babies undergo genomic testing, so it is likely that some of these conditions are of genomic origin.

Office for National Statistics (ONS)

Body responsible for collection and production of statistics related to the economy, population, and society of the UK.

Outcome of pregnancy
 

Outcome of the end of the pregnancy, as distinct to the civil registerable nature of the birth. Stillbirths or live births that have been preceded by a termination procedure are categorised in this report as a termination.

Palliative care
 

Medical care for a condition focusing on relief of symptoms rather than treating the underlying condition.

Partial trisomy
 

Extra genetic material is present, but only from part of the chromosome, not the entire chromosome. To ensure consistency throughout the report and internationally, partial trisomies are also included in the trisomy groups for prevalence reporting.

Perinatal deaths
 

Stillbirths and deaths under 7 days of age as recorded by the Office for National Statistics.

Perinatal mortality

The number of perinatal deaths per 10,000 total births. 

Post-neonatal period

From 28 days of life to 1 year of age.

Quintile

A quintile is a statistical value of a data set that represents 20% of a given population, so the first quintile represents the lowest fifth of the data (1% to 20%); the second quintile represents the second fifth (21% to 40%) and so on.

Rare diseases

A rare disease is a life-threatening or chronically debilitating disease that affects 5 people or fewer in 10,000 and requires special, combined efforts to enable patients to be treated effectively. See The UK Strategy for Rare Diseases for further information.

Regions (former Government Office Regions - GORs)

The nine Government Office Regions (GORs) were abolished on 1 April 2011 and are now known as 'regions' for statistical purposes. They were the primary statistical subdivisions of England and also the areas in which the Government Offices for the Regions fulfilled their role. Each GOR comprised a number of local authorities and remains as a ‘frozen’ geography for ongoing statistical analysis and comparison over time.

Stillbirths

A baby born after 24 or more completed weeks of gestation and which did not, at any time, breathe or show signs of life as recorded by the Office for National Statistics.

Teratogen

Substance or other factor that can cause a congenital condition by affecting fetal development.

Termination of pregnancy

Term used to describe the deliberate ending of a pregnancy with the intention that the fetus will not survive.

This includes terminations of pregnancy for a fetal congenital condition as well as terminations of pregnancy for other medical reasons where a fetal congenital condition was present. This group will include terminations for fetal anomaly (TOPFA) i.e. those carried out under Category E of the Abortion Act 1967, but it will also include terminations for other grounds.

Where a pregnancy ends in a termination, the baby may be born dead, or, in the absence of a feticide, the baby may be born alive but die shortly after. Depending on the gestation at which a termination takes place (before or after 24 weeks), it may instead be registered as a stillbirth, but the outcome of the pregnancy will be categorised in this report as a termination.

Total births

Live births and stillbirths as recorded by the Office for National Statistics.

Total birth prevalence of congenital conditions

The total number of babies diagnosed with a congenital condition (live births, stillbirths, late miscarriages, and terminations of pregnancy for a fetal congenital condition) compared to the total number of births (live births and stillbirths).

Trisomy

Trisomy is a condition that results in an extra copy of a chromosome in all or some of an individual’s cells. Down’s syndrome (Trisomy 21), Edwards syndrome (Trisomy 18) and Patau syndrome (Trisomy 13) are the most common forms of trisomy associated with pregnancies that can progress to full term.

Throughout this report we use the terms ‘woman’ and ‘women’ to refer to those who are pregnant, or who have given birth. We acknowledge that not all people who are pregnant or give birth identify as women. It is important that evidence-based information about congenital conditions is inclusive and personalised to respect people’s gender identities.