This session consisted of four presentations in which international birth anomalies systems were outlined, an international perspective on future directions for the development of a birth anomalies system was provided, the National Congenital Malformations and Birth Defects Data Collection was outlined and the results of the survey of state and territory birth anomalies collections were presented.
Presentation 1
Presenter: Mary-Rose Birch
Title: Profile of reports being used internationally.
Birth anomalies monitoring systems in a number of countries including Australia, Canada, England and Wales, Norway and the United States of America, as well as two of the international monitoring systems—the International Clearinghouse for Birth Defects Monitoring Systems (ICBDMS) and the European Concerted Action on Congenital Anomalies and Twins (EUROCAT)—were outlined in this presentation.
Similarities between these systems and the Australian one, for example that, like Australia, most of these systems have multiple sources of notifications and are used for surveillance of birth anomalies, were identified. Differences among the countries included definitions and classifications used and periods of detection of birth
anomalies.
Some of the advantages of national birth anomalies systems were outlined, including that the sample size is increased from that at the sub-national level, which is
particularly important when monitoring rare birth anomalies, and that a national system enables better understanding of the prevalence of birth anomalies within the whole population.
Presentation 2
Presenter: Dr Carol Bower
Title: Future directions for the development of a national monitoring system: an international perspective.
Birth anomalies monitoring systems in a number of countries including Canada, England and Wales, Norway and the United States of America, as well as the
international monitoring systems—the International Clearinghouse for Birth Defects Monitoring Systems (ICBDMS), the European Concerted Action on Congenital Anomalies and Twins (EUROCAT) and the Latin American Collaborative Study of Congenital Malformations (ECLAMC)—were outlined in this presentation.
Future directions for Australia in developing a national birth anomalies system were identified. These were to determine:
• the purposes for a national collection;
• whether it needs to cover the total population; • whether it needs to cover all birth anomalies;
• whether it needs to include terminations of pregnancies with birth anomalies data;
• funding;
• whether reporting should be mandatory; and
• whether other state-based systems can be used to inform this (e.g. cancer registers).
Presentation 3
Presenter: Dr Elizabeth Sullivan
Title: National birth anomalies monitoring, Australia 2003.
The current national birth anomalies system and options for the system in the future were outlined in this presentation. It was noted that data quality issues have limited the utility of the national birth anomalies data. The limitations of the data include variation among the states and territories in the scope of their collections, the definitions and classifications used, the method of data collection and the available resources. Other limitations include the lack of timeliness in the provision of data to the NPSU and lack of updating of data which results in the state and territory collections being different to the national collection.
Mechanisms for improving the utility of the national birth anomalies system were proposed. These included: increasing the scope of the collection to include genetic
disorders, prenatal and newborn screening, terminations of pregnancy associated with a diagnosis of a birth anomaly and developmental disabilities; development of consistent definitions; development and agreement of a National Minimum Data Set (NMDS); use of a single classification; development of a standard reporting form; and extension of the detection period to 1 year of age.
Mechanisms for enhancing birth anomalies surveillance were proposed. These included the development of a formal network of states and territories and other stakeholders; the fostering of collaborative research; dissemination of birth anomalies data; and the production of a national birth anomalies report.
Options for the future national birth anomalies monitoring system to overcome the current limitations were outlined. These were to:
• cease national reporting and rely on state and territory reports and studies;
• publish an annual national report on ‘sentinel anomalies’ based on aggregate data provided by the states and territories;
• publish an annual national report on all birth anomalies based on aggregated data provided by the states and territories; or
• develop and restructure the existing national birth anomalies system, based on unit records for births and terminations of pregnancies with birth anomalies, which would be provided electronically by all states and territories.
The first option was seen as limited because the capacity of the smaller states and territories, in particular, to undertake surveillance of birth anomalies is constrained by the amount of resources available, and because it would not provide national reporting which was thought to be needed.
It was thought that the second and third options were limited because of differences among the states and territories in scope, definitions and data quality and that significant investment in data development would be required.
The third option was also thought to require significant investment in data
development. However, it was thought that this option would better enable the data to be used to estimate the burden of birth anomalies in Australia, detect temporal and geographical variation, evaluate public health interventions and screening programs, and provide the evidence base for perinatal and maternal health programs and policy development.
Presentation 4
Presenter: Mary-Rose Birch
Title: Survey results of state and territory congenital malformations and birth defects collections.
This presentation was used to outline the results of the survey of the state and territory birth anomalies data collections. The results of the survey are presented in Chapter 4. The results highlighted marked variation among the state and territory collections.
From the survey results a number of tasks were identified to improve the national birth anomalies system: development of nationally consistent clinical and data definitions; development and agreement of a National Minimum Data Set for birth anomalies; identification and implementation of an agreed classification (e.g. ICD-10- AM); agreement on scope including period of detection of birth anomalies (e.g. up to
1 year of age) and terminations of pregnancies with birth anomalies data; and securing funding to support birth anomalies collections.
Session 2: Should we have a national congenital malformations and birth defects