Consultation on the future of the

National Congenital Anomaly System

Contents

1 Introduction
2 Background to congenital anomaly surveillance
3 The National Congenital Anomaly System (NCAS)
4 Current issues
5 Discussion and proposals

Annex: Response template

1 Introduction
1.1 The National Congenital Anomaly System (NCAS) was set up by ONS in 1964
in response to the thalidomide tragedy of 1958-61, primarily to provide early
warning of clusters of congenital anomalies (malformations). For most of its
lifetime NCAS has produced two types of statistical output, monitoring reports
for use by local NHS organisations, and summary national statistics. It has also
provided data for certain research purposes.

1.2 Production of the monitoring reports was suspended in 2007 for technical
reasons, as explained below. There are also serious concerns about the quality
of the NCAS data, and therefore the usefulness of statistics based on them. At
the same time, recent developments in public health surveillance have provided
alternative approaches to the monitoring of congenital anomalies.

1.3 This report briefly sets out the background to NCAS and outlines the current
issues. In the light of these factors, ONS is now considering the closure of
NCAS as a whole. It is suggested that the best way forward lies in good quality
data produced by regional congenital anomaly registers rather than in the
continuation of NCAS. Specifically, ONS proposes to:

 End the collection of congenital anomaly data on paper forms immediately

 Maintain the NCAS legacy computer system, without new developments, as
long as it is needed
 Publish the annual figures for anomalies reported in 2008 as the final output
from NCAS
 Work with the Department of Health and other stakeholders towards a
properly funded, comprehensive national system based on the work of the
existing regional registries.

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1.4 Comments on these proposals are welcome, and can be sent be email to
jane.carter@ons.gsi.gov.uk or in writing to the address below, to arrive by
Friday 26th March 2010. Please use the response template which is attached in
the Annex.

Address for comments by post:

Jane Carter
Senior Research Officer
CHALE
Office for National Statistics
1.127 Government Buildings
Cardiff Road
NEWPORT NP10 8XG

2 Background to congenital anomaly surveillance

2.1 A congenital anomaly is an abnormality of structure, function or metabolism
present at birth that results in physical or mental disability, or is fatal. Congenital
anomalies may be inherited or sporadic, and some may result from
environmental causes including diet, drugs, toxins, radiation or infection1.

2.2 Congenital anomalies are major risk factors for stillbirth and infant death; 14 per
cent of stillbirths and 31 per cent of all infant deaths in England and Wales in
2006 were caused by a congenital anomaly2. Children with major congenital
anomalies who do survive often require extensive, costly long-term treatment,
and the burden on their parents is high.

2.3 The collection of data on congenital anomalies serves three purposes:

 Public health surveillance

Monitoring of the numbers of new cases, as rapidly as possible after their
occurrence, so that new geographical clusters or changes in time trends can be
identified and investigated.

 Service planning
Estimation of the numbers of children affected by different anomalies, so that
the relevant health and social care services can be planned at national and
local levels.

 Medical or epidemiological research

Scientific investigation of the reported cases, often to establish the role of
possible biological or environmental factors in the causation of specific
anomalies.

3 The National Congenital Anomaly System (NCAS)

Data collection

3.1 The data held by NCAS comes by two routes, depending on whether or not the
area where the mother lives is covered by a local congenital anomaly register.

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 There are eight registers (see Box 1), covering 41 per cent of births in England
and all births in Wales.

3.2 NHS Trusts which are not covered by a local congenital anomaly register send
details of every affected live or stillbirth to ONS on paper (SD56 form). The data
on the form is extracted from local child health systems. It may be
supplemented with details obtained from midwives, hospitals, doctors and
health visitors. This information is manually entered into the NCAS database.

Box 1. Local registers exchanging data electronically with ONS

Year register began Register
sending data
1998 Welsh Congenital Anomaly Register and Information Service (CARIS)
1999 East Midlands and South Yorkshire Congenital Anomaly Register
2000 North Thames (West) Congenital Malformation Register1
2000 Merseyside and Cheshire Congenital Anomaly Survey
2002 Wessex Antenatally Detected Anomalies Register (WANDA)
2002 Congenital Anomaly Register for Oxfordshire, Berkshire &
Buckinghamshire (CAROBB) (Oxfordshire only prior to 2004)
2003 Northern Congenital Abnormality Register (NorCas)
2003 South West Congenital Anomaly Register
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North Thames (West) Congenital Malformation Register stopped sending data to ONS in
September 2008 when the register ran out of funding.

3.3 The registers identify cases of congenital anomalies using multiple sources,
including SD56 forms from NHS Trusts but also information from cytogenetic
laboratories, neonatal units, and other hospital and community child health
services. The registers send details of all live and stillbirths on their register to
ONS on electronic files which are loaded into the database. They also collect
data on pregnancies which were terminated following diagnosis of a congenital
anomaly.

Outputs

3.4 ONS publishes two main outputs from NCAS, the annual reference volume
Congenital Anomaly Statistics: Notifications (series MB3) and an annual update
in Health Statistics Quarterly. The update is a commentary on statistics for
recent years, putting figures for the latest year in the context of recent trends in
notifications. Annual tables are also supplied to the International Clearinghouse
for Birth Defects and the National Centre for Health Outcomes Development
(NCHOD) for inclusion on their websites. The regional registers supply data to
EUROCAT, a European network of population-based registries for the
epidemiological surveillance of congenital anomalies.

Congenital Anomaly Statistics: Notifications is available on the National

Statistics website at: http://www.statistics.gov.uk/StatBase/Product.asp?
vlnk=5799

The latest update is available on the National Statistics website at:

http://www.statistics.gov.uk/products/p6725.asp

3.5 ONS responds to requests for tabulated data from individual customers, subject
the requirements of confidentiality. This includes figures for Parliamentary
Questions, media enquires and academic studies. Individual details based on

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 the data received directly by ONS are only released subject to approval under
s251 of the NHS Act 2006. Individual details obtained through the local
congenital anomaly registers are only released with the consent of the relevant
register.

3.6 Surveillance alerts are produced for the information of local NHS authorities,
using a cumulative sum (CUSUM) statistical method.3 Over the life of the
system, the frequency of reporting and the NHS organisations involved have
changed. In 2006, annual and quarterly alerts were calculated for the 28 ‘old’
Strategic Health Authorities in England, and for Wales. Production of these
reports has been suspended since 2007, because of the need to adapt the
system to use a new classification scheme developed with the British Isles
Network of Congenital Anomaly Registers (BINOCAR).

4 Current issues
Completeness of reporting

4.1 Reporting of affected births to NCAS is voluntary. For areas not covered by a
local congenital anomaly register, notifications on paper forms are the only
source of data. On the other hand, local registers have multiple sources of data
including cytogenetic laboratories, neonatal units and other child health
services. A comparison between the levels of reporting of some major
congenital anomalies in register and non-register areas highlights the
incompleteness of information from the latter (Table 1).

Table 1. Congenital anomaly notifications, selected anomalies, England

and Wales 2007
Cause ICD codes1 Areas covered by a Areas not covered by
local register a register

Number Rate2 Number Rate2

Cardiovascular Q20-Q26, 961 31.7 105 2.9

anomalies Exclude Q25.0
with gestation
<37 weeks
Down syndrome Q90 243 8.0 96 2.7
Cleft lip with or Q36 and Q37 229 7.6 111 3.1
without cleft palate
Neural tube defects Q00, Q01 or Q05 55 1.8 20 0.6
Gastroschisis Q79.3 94 3.1 24 0.7
1 th
International Classification of Diseases, 10 edition
2
Rate per 10,000 live and stillbirths

4.2 Notification rates are much higher for areas covered by a local register. This is
particularly true for conditions which may not be diagnosed at birth, such as
cardiovascular anomalies where the rate for areas covered by a register is ten
times higher than for areas not covered by a register. Even conditions which
should be obvious at birth, such as cleft lip, show marked differences in
notification rates. These differences between register and non-register areas
have increased over time. [4]

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4.3 In 2006 a number of primary care trusts did not send any data to NCAS (Table
2). It is most unlikely that there were no cases of congenital anomalies in these
areas. Other areas not covered by a register, which do send data to NCAS, may
not have sent details of all their cases. Differences between PCTs are in some
cases due to local funding decisions, and in others may be for operational
reasons or due to lack of resources.

4.4 NCAS receives notifications of affected live and stillbirths. However, in a

significant number of pregnancies a congenital anomaly is identified by prenatal
screening and the pregnancy is terminated by abortion. For example, figures
from the National Down Syndrome Cytogenetic Register show that in 2007/08
only about 40 per cent of pregnancies diagnosed with Down Syndrome resulted
in a live birth. [5] Figures from NCAS therefore underestimate the overall level of
congenital anomalies occurring in the population.

Table 2. Number and percentage of births which were in PCTs which did
not report congenital anomalies to NCAS, by Government Office Region,
2006
Government Total number of live Number of live Percent of births in
Office Region and stillbirths and stillbirths in areas without
PCTs not sending congenital anomaly
any data to NCAS data

Wales 29340 0 0.0

North East 84608 5459 6.5
North West 63298 19803 31.3
Yorkshire and the 51007 21562 42.3
Humber
East Midlands 68067 14469 21.3
West Midlands 67177 8737 13.0
East 121660 14374 11.8
London 49393 3116 6.3
South East 49652 0 0.0
South West 54964 0 0.0

Statistical and technical issues

4.5 The Cusum statistical method used to generate surveillance alerts detects
changes over time in the number of cases reported in a given area. In 2006, 56
quarterly alerts were produced for Strategic Health Authorities in England or for
Wales. A review in 20051 highlighted the variety of reasons for which false
positive alerts (those which do not reflect a real increase in the frequency of
cases) can occur (Box 2). At the same time, the review noted that none of the
alerts produced by NCAS was known to have detected a true increase in
congenital anomalies.

4.6 Surveillance of anomalies for public health purposes requires the ability to
monitor the total number of pregnancies or foetuses affected by a specific
anomaly. The data reported to NCAS include live and stillbirths but not
pregnancies terminated by abortion, or miscarriages. Therefore, the system
might be unable to detect any increase in incidence if the majority of affected
pregnancies were terminated. Regional registers receive information about
abortions from NHS records and antenatal screening laboratories, but this is not
available to NCAS.

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4.7 There would potentially be two ways of incorporating termination data into the
NCAS system: using data held by the Department of Health on terminations
carried out under Section E of the Abortion Act 1967, or incorporating data held
by the regional registers on cases of congenital anomalies where the pregnancy
ended in an abortion.

Box 2. Potential reasons for false positive alerts

Improved If a local area improves its reporting of specific anomalies, for example if
reporting a new consultant begins sending in details of his or her cases, then an
alert may be triggered.

Variations in the If the birth rate increases (as has happened recently in England and
birth rate Wales) then the number of congenital anomaly notifications can be
expected to increase. This could trigger alerts in the surveillance system
when the number, but not rate, of specific anomalies increases.

Variations in Since NCAS does not include data on terminations of pregnancy, the
abortion rates numbers of cases reported may be affected by changes in the proportion
of affected pregnancies terminated, for example due to changes in
screening programmes.

Fluctuations For many anomalies, the number of cases even at SHA level is extremely
due to small small, so that only one extra case may trigger an alert.
numbers

4.8 The operation of the surveillance system is affected by the geographical

boundaries used for reporting, and by the codes and classifications used to
identify and group anomalies. The system for producing alerts was successfully
adapted to changes in NHS organisational structures over time. However,
resources have not been available to make further changes which are needed
to adapt the outputs to a new classification scheme developed with the British
Isles Network of Congenital Anomaly Registers (BINOCAR) in 2007.

5 Discussion and proposals

5.1 The data collected by NCAS from areas without a regional congenital
anomalies register is substantially incomplete. The level of completeness varies
geographically, and has increased over time (paras 4.1-4.3 above). Reporting to
NCAS is voluntary, and ONS has no effective means to improve the
completeness of reporting or ensure its quality. Consequently, the resources
devoted by ONS and local NHS organisations to the collection of these data are
not a justifiable use of public funds.

5.2 ONS proposes to end the collection of congenital anomaly data on paper
forms immediately.

5.3 The methodological issues surrounding the system for producing surveillance
alerts are well recognised (paras 4.5-4.7 above). There is little evidence that
these alerts are of practical value to local NHS organisations, because the area
they cover is too wide.

5.4 The potential value of the information produced by NCAS for the surveillance of
congenital anomalies is greatly reduced by the lack of data on pregnancies
ending in abortion. Although options exist to remedy this situation, both would
require the identification of substantial resources to develop the legacy
computer system used by NCAS and quality assure the resulting new outputs.

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5.5 A new system for the surveillance of congenital anomalies needs to be
developed. This would use data collected by local congenital anomaly
registers, including data on pregnancies ending in abortion. Additional
resources will be required. One option would be to use alternative surveillance
methods and software that have recently been made available by EUROCAT
which will permit timely analysis of data for small geographical areas. [6]

5.6 ONS proposes to maintain the NCAS legacy computer system, without
new developments, as long as it is needed. This means that system
improvements which would be required to (a) restart the production of
surveillance reports, or (b) incorporate data on terminations of pregnancy would
not be carried out.

5.7 In the light of the issues described above, ONS does not consider the statistical
outputs produced from NCAS to be of a quality suitable for continued
publication as National Statistics. In addition, the data collected by regional
congenital anomaly registers is substantially more complete and provides a
better basis for the surveillance of trends in congenital anomalies.

5.8 ONS proposes to publish the annual figures for anomalies reported in
2008 as the final output from NCAS. No figures would be produced for 2009
onwards. Discussions would be required with stakeholders on issues such as
responsibility for the historical datasets.

5.9 In view of the public health importance of congenital anomaly surveillance, ONS
advocates the establishment of an appropriately funded and centrally
coordinated national network of regional congenital anomaly registers, covering
all parts of the country, at the earliest opportunity.

5.10 ONS proposes to work with the Department of Health and other
stakeholders towards a properly funded, comprehensive national system
based on the work of the existing regional registries.

References
1. Misra T, Dattani N, Majeed A. Evaluation of the National Congenital Anomaly
System in England and Wales. Archives of Disease in Childhood – Fetal and
Neonatal Edition 2005; 90: F368-73

2. Moser K. Report: Infant and perinatal mortality by social and biological factors,
2007. Health Statistics Quarterly 2007; 40: 61-65 - available at:
http://nswebcopy/downloads/theme_health/HSQ40-winter-2008.pdf

3. Weatherall JAC, Haskey J. Surveillance of malformations. British Medical Bulletin

1976; 32: 39-44

4. McLaren E , Ruddock V. Congenital anomaly notifications 2007, England and

Wales. Health Statistics Quarterly 2009; 41: 69-73 – available at:
http://nswebcopy/downloads/theme_health/HSQ41-winter-2009.pdf

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5. Morris J. The National Down Syndrome Cytogenetic Register – 2007/8 Annual
Report – available at:
http://www.wolfson.qmul.ac.uk/ndscr/reports/NDCSRreport0708.pdf

6. Densem J. The EDMP Software for the Detection of Time Clusters – User
Friendly Software for Congenital Anomaly Registers. Presented at EUROCAT
conference on Methodological Approaches to the Assessment of Risk of
Congenital Anomaly due to Environment Pollution
Budapest, March 2007 – available at:

http://www.eurocat.ulster.ac.uk/pdf/EUROCAT%20Meetings/Budapest
%202007/Presentations/Densem.pdf

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Annex

Response template
Name

Organisation(s) represented

Address

Telephone number

e-mail address

Please comment on the four proposals contained in this document, and on any other
issues you think relevant.

 ONS proposes to end the collection of congenital anomaly data on paper

forms immediately.
 ONS proposes to maintain the NCAS legacy computer system, without new
developments, as long as it is needed.
 ONS proposes to publish the annual figures for anomalies reported in 2008
as the final output from NCAS.
 ONS proposes to work with the Department of Health and other
stakeholders towards a properly funded, comprehensive national system
based on the work of the existing regional registries.

Your comments:

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Any other comments you wish to make:

Many thanks for your response to this consultation. Please note that responses may be
made public and attributable to the respondent.

Please submit your comments by the end of Friday 26 March 2010.

Please return to:

Jane Carter
Senior Research Officer
CHALE
Office for National Statistics
1.127 Government Buildings
Cardiff Road
NEWPORT NP10 8XG

Jane.carter@ons.gsi.gov.uk

18 December 2009

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