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, 91% of which were isolated anomalies. A concomitant genetic disorder was diagnosed in 6% of the cases, while 3% 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 (51%, 145/282) and cyanosis (26%, 73/282). Diagnosis after discharge from the hospital occurred in 12% (72/598) of all major CHDs. Ventricular septal defect and coarctation of the aorta constituted the majority of delayed diagnoses. 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.

SOUHRN Cíl: Studium vývoje a efektivity prenatální diagnostiky vrozených srdečních vad (VSV). Sledování celkového výskytu VSV a úrovně fetální detekce jednotlivých typů vad. Metodika: Retrospektivní studie, která zpracovala údaje o ultrazvukových vyšetřeních fetálního srdce provedených gynekology, genetiky a dětskými kardiology a postnatálních vyšetřeních dětí s VSV dětskými kardiology v letech 2011 až 2018. Přítomnost dětského kardiologa u všech autopsií plodů po ukončení gravidity z důvodu fetálně detekované VSV. Došetření genetických a extrakardiálních patologií u plodů a novorozenců s významnou VSV. Výsledky: Během sledovaného osmiletého období bylo v populaci 90 880 živě narozených diagnostikováno 351 (3,9/1 000) významných VSV. V 72 % (252/351) se VSV vyskytly jako izolované patologie. Prenatálně bylo detekováno 66 % (230/351) VSV. Efektivita screeningu významných VSV postupně stoupala, z 57 % v roce 2008 na 80 % v roce 2018. Nejvyšší fetální detekci měly vady alterující morfologii komor (80-100 %). Ve skupině prenatálně detekovaných VSV se 47 % (109/230) rodičů rozhodlo pro ukončení gravidity, 5 % (10/230) fetů intrauterinně zemřelo a 48 % (111/230) rodin pokračovalo v graviditě. Závěr: VSV se vyskytují většinou jako izolovaná anomálie. Významné VSV jsou dobře detekovatelné prenatálně, jejich fetální detekce má vysokou efektivitu a trvale se zlepšuje. Nejvyšší detekce je u VSV diagnostikovatelných ze základní čtyřdutinové projekce. Participace dětské kardiologie na fetálním screeningu VSV zvyšuje jeho efektivitu a při fi nální diagnostice se jeví nezbytná.ABSTRACT Aim: To study the development and effectiveness of prenatal diagnostics for congenital heart defects (CHDs). To monitor the overall incidence of CHDs and the level of detection for individual types of fetal defects. Methods: This retrospective cohort study retrieved data on ultrasound examinations of the fetal heart (fetal echocardiography), conducted by a gynecologist or pediatric cardiologist, and postnatal standardized examinations, conducted by a pediatric cardiologist, between 2011 and 2018. A pediatric cardiologist was present at all fetal autopsies and provided precise descriptions of the heart defect. All fetuses and newborns with severe pathologies were included to identify associated genetic and extracardiac pathologies. Results: During the 8-year monitoring period, a total of 351 cases of severe heart defects were diagnosed in a population of 90,880 live births (3.9/1 000). CHDs manifested as an isolated anomaly in 72% of cases (252/351). In total, 66% of CHDs (230/351) were detected prenatally and 34% (121/351) of CHDs remained undetected until after birth. Screening effectiveness gradually improved over time; among the severe CHDs, 57% and 80% were detected prenatally in 2011 and 2018, respectively. Among all CHDs, the highest prenatal detection rates (80-100%) were observed for pathologies that affected ventricular morphology. In the group of prenatally diagnosed CHDs, 47% (109/230) of families decided to terminate the pregnancy, 5%...

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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.