Abstract

Background Congenital heart defects (CHD) affect 8–9/1000 live births. Current screening methods to detect CHDs are: fetal anomaly screening (FAS), routine examination of newborns and pulse oximetry screening, which is not a national recommendation at this stage. Aimsand objectives To study the methods of diagnosis of CHDs. To determine at what age the diagnosis of CHD was made, and to study the outcomes in infants with CHDs. Methods A retrospective cohort study from a single centre in the UK investigated the diagnosis of CHD between 01/01/2016 and 31/12/2017. Data was collected from electronic patient records. Minor abnormalities, including patent ductus arteriosus and patent foramen ovale requiring no intervention, were excluded from the study. Cases were classified based on their outcomes into: Critical CHDs – fatality or surgery required within first month after birth Serious CHDs – surgery required after first month but within first year after birth Significant CHDs– observation for at least one year Non–significant CHDs – no follow up. Results Out of 220 patients diagnosed with CHD in the two year time period, 16 cases had a critical CHD. Of these, 11 (69%) were diagnosed antenatally and 5 (31%) were diagnosed postnatally, with all diagnoses being made before discharge from hospital. 20 of 32 infants (63%) with a serious CHD were diagnosed after birth, and 6 of these 20 infants were diagnosed after discharge from hospital. In 96 infants with significant CHDs, 2 were detected antenatally while in 76 infants with non-significant CHDs, 10 were detected antenatally. Conclusions In our cohort, the majority of critical CHDs were diagnosed antenatally. However, a large proportion of serious CHDs were diagnosed after birth. While antenatal detection of CHDs on FAS is improving and now over 50% critical CHDs are being diagnosed antenatally, a significant proportion of critical and serious CHDs are still being diagnosed postnatally. The outcomes of infants with CHDs were consistently excellent in our study cohort. There remains a need for a high index of suspicion for early diagnosis of CHDs during infancy.

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