Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2019, 163(1):67-74 | DOI: 10.5507/bp.2018.049

Associations between congenital heart defects and genetic and morphological anomalies. The importance of prenatal screening

Jan Pavliceka, Tomas Gruszkaa, Sabina Kapralovab, Martin Prochazkac, Eva Silhanovad, Romana Kaniovad, Slavka Polanskaa, Renata Cernickovac, Eva Klaskovab
a Department of Pediatrics and Prenatal Cardiology, University Hospital Ostrava, Czech Republic
b Department of Pediatrics, University Hospital Olomouc and Faculty of Medicine and Dentistry, Palacky University Olomouc, Czech Republic
c Department of Medical Genetics, University Hospital Olomouc and Faculty of Medicine and Dentistry, Palacky University Olomouc, Czech Republic
d Department of Medical Genetics, University Hospital Ostrava, Czech Republic

Aim: To study congenital heart defects (CHDs), evaluate their relation to extra-cardiac pathologies, and assess the significance of prenatal diagnostics for heart diseases.

Methods: Data from 1999-2017 were analyzed for the incidence of significant CHDs in fetuses (prenatal ultrasound/echocardiography) and children, including, where applicable, autopsy data and genetic evaluation.

Results: Among 220,400 fetuses, 819 (3.7 cases per 1000) significant CHDs were observed. Of the total, 53% (435/819) of CHDs were diagnosed prenatally. The heart defect was an isolated impairment in 78% (640/819), associated with a genetic impairment in 16% (128/819), and with extra-cardiac malformations without genetic pathology in 6% (51/819). Chromosomal aberrations were diagnosed prenatally in 70% (90/128) of those affected and extra-cardiac conditions in 86% (44/51). The CHD and genetic pathology association was more frequent prenatally [21% (90/435) vs. postnatally: 10% (38/384; P<0.0001)], as was the association between CHD with other extra-cardiac pathology and a normal karyotype [prenatally: 10% (44/435) vs. postnatally: 2% (7/384; P<0.0001)].

Conclusion: Heart defects are most frequently isolated, with genetic and other extra-cardiac anomalies in about one third of cases, significantly linked to prenatal diagnostics.

Keywords: congenital heart defect, screening, fetal echocardiography, genetic abnormality, aneuploidy, extracardiac malformation

Received: January 28, 2018; Accepted: August 22, 2018; Prepublished online: September 6, 2018; Published: February 18, 2019  Show citation

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Pavlicek, J., Gruszka, T., Kapralova, S., Prochazka, M., Silhanova, E., Kaniova, R., ... Klaskova, E. (2019). Associations between congenital heart defects and genetic and morphological anomalies. The importance of prenatal screening. Biomedical papers, 163(1), 67-74. doi: 10.5507/bp.2018.049
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