Over the last 20 years, there have been major advances in the detection of congenital cardiac disease, with antenatal and postnatal echocardiography augmenting the postnatal examination. Congenital cardiac disease can now be diagnosed during foetal life or prior to discharge from hospital. Earlier diagnosis may have a benefit on a measurable outcome. The aim of this study was to ascertain, first, whether congenital cardiac disease is being diagnosed earlier, second, the current rate of detection for congenital cardiac disease and, third the impact on clinical presentation. Methods: Patients were identified from the database of a specialist cardiac clinic in a single centre where their mothers had received obstetric care and been delivered. A retrospective case-note review was performed. Diagnosis of congenital cardiac disease was made either antenatally, prior to, or after discharge from hospital. The mode of clinical presentation was recorded. Patients were grouped according to year of birth, which corresponded to the level of screening available at that time. From 1985 to 1989, this was by clinical postnatal examination. From 1990 to 1994, a foetal 4-chamber view was obtained at the anomaly scan and combined with clinical postnatal examination. Then, from 1995 until 2002, a 5-chamber view was obtained during foetal scanning, along with an echocardiographic study prior to discharge if indicated clinically from the postnatal examination. Results: 238 children fitted the criterions for the study. With the introduction of each new technique, a greater proportion of children were diagnosed earlier, particularly in those with severe disease in whom intervention was required in the first year of life.

Comparing the latest period with those before it, significantly fewer children were diagnosed after initial discharge from hospital (p = 0.001), significantly few children presented symptomatically (p = 0.02), with p < 0.001 in the severe subgroup, and fewer required preoperative inotropic support. Conclusions: New screening techniques have resulted in earlier diagnosis of congenital cardiac disease. Over the period 2000 through 2002, 87% of children with severe congenital cardiac disease were diagnosed either antenatally or prior to discharge. When mode of presentation is used as a measure of outcome, screening for congenital cardiac disease is useful.