Collecting accurate congenital anomaly data is important as it can affect the way the health service works for the people of Wales.
CARIS can increasingly give an insight into the ways that different services and interventions interact to assist patient care.
The NHS in Wales has used CARIS data relating to a range of anomalies, including cardiac anomalies, cleft lip and palate, and cystic fibrosis to help in the planning of services.
CARIS has a close relationship with Antenatal Screening Wales and help with data on antenatal detection and outcomes. One of the advantages of good antenatal screening and detection is the ability to plan during pregnancy for delivery to take place in a suitable unit with appropriate paediatric services available.
The register can help by providing outcome data to inform and help with decision making. This may be of particular value for rare or very rare conditions. Health professionals who are aware of CARIS may find that this helps the counselling process. It can be reassuring to parents that there is a system for recording, analysing and making sense of what has happened.
Information on congenital anomalies detected during the antenatal period is contained in the documents linked to above.
All pregnant women in Wales are offered the same antenatal screening programme which consists of seven blood tests and two ultrasound scans. The two ultrasound scans offered through the Antenatal Screening Wales programme are the ‘early pregnancy ultrasound scan’ and the ‘fetal anomaly scan’. These scans are often a pleasurable experience for women as they offer a chance to see their baby moving and developing. However occasionally these scans will identify a problem with either the mother or the baby.
The early pregnancy ultrasound scan is offered to determine viability, the gestational age and to detect multiple pregnancies. Some fetal anomalies may be detected, but this is not the primary purpose of this scan. The purpose of the fetal anomaly ultrasound scan is to detect significant fetal anomalies that are likely to have an adverse effect on the health of the mother or baby, and for which an effective intervention is available and warranted. Anomalies can also be detected on scans which take place later in pregnancy. The CARIS data on antenatal ultrasound detection includes cases detected at any of the scans which take place during the pregnancy.
For some conditions, preventive treatment is available during the antenatal period or after delivery to improve the baby’s health. For other conditions, while the condition can be identified by ultrasound scanning , no preventive treatment is available. In such cases, women can then make an informed decision about whether they wish to continue with the pregnancy.
An antenatal anomaly will be notified to CARIS by the ultrasonographer at the time of detection. This has enabled CARIS to estimate the detection rate in certain conditions. Changes to the Radiology Information System (RadIS) reporting module used by ultrasonographers has made reporting easier and quicker. Roll out of the updated RadIS II system has been achieved in all hospitals in Wales except one.
CARIS works closely with staff in health boards so that antenatal ultrasound outcomes can be audited and those cases not detected can be reviewed by radiology departments. CARIS also works closely with Antenatal Screening Wales in monitoring detection rates. CARIS data shows that for many conditions there has been continual improvement in the detection of anomalies over the last 17 years. For more easily identified anomalies, such as anencephaly or spina bifida, high levels of detection have been maintained across the whole of this period.
The detection of cardiac anomalies in the antenatal period has improved dramatically from a very low base, so that now Wales has the best detection rates in the UK for cardiac anomalies. This means that now around four to five babies each year are saved that previously would have died before treatment could be given.
Newborn bloodspot screening detects rare but serious diseases that respond to early intervention.
The screening test should be between day five and day eight after the baby is born, and is part of routine post natal care.
Screening for (PKU) has been in place for many years, screening for MCADD was introduced in June 2012, while screening for other inherited metabolic disorders was introduced in January 2015.
More details can be found on the Newborn Bloodspot Screening Wales website.
One or two babies in every 1,000 are born with a hearing loss that may affect the development of their speech and language. Newborn hearing screening was introduced in Wales in March 2003 and is usually carried out during a baby's first week of life.
More information is available from the Newborn Bloodspot Screening Wales website.