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Background: Severe or critical congenital heart defects (CHDs) constitute one third of the heart defect cases detected only after birth. These prenatally unrecognised defects usually manifest as cyanotic or acyanotic lesions and are diagnosed postnatally at various times. The aim of the study was to identify their clinical symptoms and determine individual risk periods for CHD manifestation. Methods: Data were assessed retrospectively based on a cohort of patients born between 2009 and 2018 in a population of 175,153 live births. Occurrence of the first symptoms of CHD was classified into: early neonatal (0–7 days), late neonatal (8–28 days), early infancy (1–6 months), or late infancy (6–12 months). The first symptom for which the child was referred to a paediatric cardiologist was defined as a symptom of CHD. Results: There were 598 major CHDs diagnosed in the studied region, and 70% were isolated anomalies. A concomitant genetic disorder was diagnosed in 20% of the cases, while 10% presented extracardiac pathology with a normal karyotype. In total, 47% (282/598) of all CHDs were not identified prenatally. Of these, 74% (210/282) were diagnosed as early neonates, 16% (44/282) as late neonates, and 10% (28/282) as infants. The most common symptoms leading to the diagnosis of CHD were heart murmur (53%, 149/282) and cyanosis (24%, 69/282). Diagnosis after discharge from the hospital occurred in 12% (72/598) of all major CHDs. Most delayed diagnoses consisted of ventricular septal defect and coarctation of the aorta. Conclusions: In conclusion, murmur and cyanosis are the most common manifestations of prenatally undetected CHDs. Although most children with major CHDs are diagnosed as neonates, some patients are still discharged from the maternity hospital with an unidentified defect.

Background: Severe or critical congenital heart defects (CHDs) are 35% of those detected only after birth. The aim of the study was to measure the incidence of these CHDs, identify their clinical symptoms, and determine individual risk periods for CHD manifestation. Methods: This retrospective cohort study was conducted from 2009 to 2018 in a population of 175,153 live births. Occurrence of the first symptoms of CHD was noted as early neonatal (0–7 days), late neonatal (8–28 days), in early infancy (1–6 months), or in late infancy (6–12 months). The first symptom for which the child was referred to a pediatric cardiologist was defined as a symptom of CHD. Results : There were 598 severe CHDs diagnosed (3.3 cases/1000), and 70% were isolated anomalies. A concomitant genetic disorder was diagnosed in 20%, and extracardiac pathology with a normal karyotype was present in 10%. Of the total, 53% of CHDs were detected prenatally and excluded. The remaining 47% developed CHD symptoms postnatally. Of these, 74% were diagnosed as early neonates, 16% as late neonates, and 10% as infants. Defects requiring repeated operations manifested significantly earlier than those with requiring one primary correction. The most common symptoms leading to the diagnosis of CHD were heart murmur and cyanosis. Conclusions : Despite the effectiveness of prenatal diagnosis, some children will be born with undiagnosed major heart defects. Assessment of symptoms and early detection of the defect is crucial.