Prevalence and primary prevention of congenital anomalies in Northern Ireland

Executive summary Surveillance of congenital anomalies involves the regular collection and analysis of epidemiologic data on congenital anomalies to inform public health action. Surveillance data is needed to plan service provision (antenatally and postnatally), guide preventive actions by identifying risk and protective factors, and respond to emerging health threats (such as Zika or swine flu, or environmental pollution incidents). One third of Europe is covered by congenital anomaly registers, including all of England and Wales and nearly two thirds of Ireland. There is no congenital anomaly register in Northern Ireland. The aims of the first part of this Report are to provide a snapshot of the prevalence of congenital anomalies in Northern Ireland using available data sources, to assess the completeness and accessibility of different sources of information currently available, and to make recommendations for a surveillance system. Northern Ireland has excellent sources of healthcare data on congenital anomalies. The geographical situation of Northern Ireland mean that affected women and babies are seen by services within Northern Ireland, whether or not they are also referred to specialist services elsewhere, making it relatively easy to collect population-based data. However, the data cannot be used in their current state for congenital anomaly surveillance. Different data sources need to be combined, coding needs to be verified to exclude minor anomalies and conditions which are suspected but not confirmed as congenital anomalies, and data need to be converted from healthcare episode-based data to baby/child-based data, avoiding duplication across sources.In Northern Ireland in one year, among approximately 25,000 births:• There were 16 stillbirths and 40 infant deaths with congenital anomaly in 2008. This was 14% of all stillbirths and 33% of all infant deaths(1).• The Child Health System (CHS) recorded approximately 500 babies born with a major congenital anomaly in 2008. • Neonatal Intensive Care Outcomes Research & Evaluation (NICORE) recorded 162 children admitted to neonatal units with major congenital anomalies in 2009, requiring 2850 days of neonatal unit care. This cost the health service approximately £2.35 million.• Hospital Episode Statistics (HES) data recorded 5,411 children under 16 admitted to hospital in 2008 with diagnoses which included a Q code for a congenital anomaly, 6.9% of all admissions, although not all these codes represent true or major congenital anomalies; • The Fetal Medicine Unit (FMU) in 2012 recorded 281 prenatal diagnoses of congenital anomaly• Heartsuite data from the Royal Belfast Hospital for Sick Children (RBHSC) recorded 223 children with major congenital heart disease born in 2008, of whom only 40% were recorded in the CHS.• CHS data and other sources in 2008 recorded 18 children born with spina bifida, 9 children with hydrocephalus, 24 children with cleft lip or cleft palate, 20 children with the severe abdominal wall defects gastroschisis or omphalocele, 75 boys with hypospadias (abnormal position of penile opening), 9 children born with a shortened or missing limb, and 30 children born with Down Syndrome.• The Paediatric Surgery database recorded surgery in 2008 for 20 children with spina bifida, 13 with gastroschisis, 6 with exomphalos/omphalocele, 10 with Hirschprung’s disease, 9 with tracheo-oesophageal fistula or atresia, 8 pyloric atresia or malrotation, 7 with posterior urethral valves, and 26 with other congenital conditions needing surgery.The aim of the second part of this Report is to survey the policies in practices in Northern Ireland currently regarding primary prevention of congenital anomalies. The work was conducted as part of a European survey that accompanied a set of European Surveillance of Congenital Anomalies (EUROCAT)/European Project for Rare Diseases National Plans Development (EUROPLAN) Recommendations for primary prevention of congenital anomalies for inclusion in National Plans for Rare Diseases.We found that although there are policies and initiatives in relation to a number of relevant risk factors, which we document in detail, there is no overarching strategy for the prevention of congenital anomalies in Northern Ireland, nor any information source or monitoring of the effectiveness of the variety of guidelines and practices, nor any target relating to prevention of congenital anomalies. We recommend that:1. An overarching strategy for the prevention of congenital anomalies in Northern Ireland be developed.2. An information hub be established for congenital anomalies, for surveillance of congenital anomalies and monitoring of risk factors.3. That a congenital anomaly register be set up, which would routinely access: the CHS, the HeartSuite clinical database on congenital heart disease, the FMU clinical data on prenatal diagnoses, the Regional Cytogenetics Service on chromosomal and genetic diagnoses, NICORE data on neonatal care admissions, Registrar General and NIMACH data on perinatal and infant deaths, and HES data on hospital admissions.4. That the congenital anomaly register should include a) a “spine” of identifiable well validated diagnostic information, kept securely b) provision for individual validation of diagnostic information for cases with complex, multiple or poorly specified diagnoses by trained staff, with medical geneticist supervision c) implementation of EUROCAT methodology to ensure comparability of data with the rest of UK/Ireland/Europe d) linkage of the “spine” with Northern Ireland Maternity Information System (NIMATS) and other databases via the Honest Broker Service to build up an extensive de-identified dataset with information on maternal and baby factors and health service use for research and service planning e) provision for the minimal identified register to allow families to be contacted for the provision of services and information and for enrolment in special research studies.5. That the operation of a congenital anomaly information hub or register for surveillance in Northern Ireland be designed and costed by a working group of stakeholders and that should take no more than 3 months from today.6. That North-South links be pursued with the Irish EUROCAT registers.