Timely Diagnosis of Congenital Heart Disease–Did We Improve?

Introduction: Delayed recognition of congenital heart disease (CHD) is not infrequent and may have a negative impact on the child’s prognosis. A study from our institution published in 2001 showed a rate of late diagnosis as high as 10% of all relevant CHD requiring therapy, and this rate was equal in cyanotic and acyanotic CHD. Methods: A study identical to the one 12 years ago was performed with prospective evaluation of the time of first diagnosis of CHD during a 3-year period ending in June 2011. Only CHD that required surgical or catheterbased treatment was included. Late diagnosis was defined as diagnosis of CHD after discharge from the birth hospital for cyanotic CHD; for acyanotic CHD it was defined as first diagnosis at a time when therapy should already have taken place in accordance with recommended standards or if immediate treatment was necessary at the time of CHD recognition. In between the two studies came the recommendation of a nationwide neonatal pulse oximetry screening, starting in 2006. Results: A total of 209 patients were included, 41% of these had cyanotic and 59% had acyanotic CHD. According to the entry criteria, late diagnosis was observed in 21 patients (10% of total population); 6% of cyanotic CHD patients (5 of 85) and 13% of acyanotic CHD patients (16 of 124). The two most frequently missed CHDs were atrial septal defect and coarctation (seven and six patients, respectively). Delayed diagnosis resulted in one death (unrecognised interrupted aortic arch in one neonate). Compared with the historical study in our referral population the main finding was that the total number of late diagnoses remained stable at 10%, with a slight decrease only in the rate of late diagnosed cyanotic CHD (from 10 to 6%) but with a rise in late diagnosed acyanotic CHD from 10 to 13% of all patients observed. Conclusions: After 12 years of referring physician education and the implementation of a nationwide neonatal pulse oximetry screening, the rate of late diagnosis of CHD remained unchanged at 10% of all patients with only the rate of cyanotic CHD showing a slight decline.