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• W2890582098 abstract "To study congenital heart defects (CHDs), evaluate their relation to extra-cardiac pathologies, and assess the significance of prenatal diagnostics for heart diseases.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.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)].Heart defects are most frequently isolated, with genetic and other extra-cardiac anomalies in about one third of cases, significantly linked to prenatal diagnostics." @default.
• W2890582098 created "2018-09-27" @default.
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• W2890582098 date "2019-02-18" @default.
• W2890582098 modified "2023-10-14" @default.
• W2890582098 title "Associations between congenital heart defects and genetic and morphological anomalies. The importance of prenatal screening" @default.
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• W2890582098 doi "https://doi.org/10.5507/bp.2018.049" @default.
• W2890582098 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30198518" @default.
• W2890582098 hasPublicationYear "2019" @default.
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