Associations between congenital heart defects and genetic and morphological anomalies. The importance of prenatal screening
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00843989%3A_____%2F19%3AE0107721" target="_blank" >RIV/00843989:_____/19:E0107721 - isvavai.cz</a>
Alternative codes found
RIV/61989592:15110/19:73590740
Result on the web
<a href="https://biomed.papers.upol.cz/pdfs/bio/2019/01/09.pdf" target="_blank" >https://biomed.papers.upol.cz/pdfs/bio/2019/01/09.pdf</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.5507/bp.2018.049" target="_blank" >10.5507/bp.2018.049</a>
Alternative languages
Result language
angličtina
Original language name
Associations between congenital heart defects and genetic and morphological anomalies. The importance of prenatal screening
Original language description
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.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30209 - Paediatrics
Result continuities
Project
<a href="/en/project/NV17-29111A" target="_blank" >NV17-29111A: A key role of the karyotype in risk stratification for the premature cardiovascular morbidity and mortality in females with Turner syndrome</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)
Others
Publication year
2019
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Biomedical papers
ISSN
1213-8118
e-ISSN
1804-7521
Volume of the periodical
163
Issue of the periodical within the volume
1
Country of publishing house
CZ - CZECH REPUBLIC
Number of pages
8
Pages from-to
67-74
UT code for WoS article
000458362500009
EID of the result in the Scopus database
2-s2.0-85062374776