Cardiovascular anomalies among 1005 fetuses referred to invasive prenatal testing - a comprehensive cohort study of associated chromosomal aberrations

2022
journal article
article
2
dc.abstract.enThis retrospective cohort study comprehensively evaluates cardiovascular anomalies (CVAs) and associated extracardiac structural malformations (ECMs) among 1005 fetuses undergoing invasive prenatal testing at a single tertiary Polish center in the context of chromosomal aberrations detected in them by array comparative genomic hybridization (aCGH) and G-band karyotyping. The results of our study show that CVAs are among the most common malformations detected in fetuses undergoing invasive prenatal testing, as they affected 20% of all cases seen in our department. Septal defects predominated among fetuses with numerical aberrations, while conotruncal defects were the most common findings among fetuses with pathogenic copy number variants (CNVs). In 61% of cases, CVAs were associated with ECMs (the diagnosis was confirmed postnatally or in cases of pregnancy termination by means of autopsy). The most common ECMs were anomalies of the face and neck, followed by skeletal defects. In total, pathogenic chromosomal aberrations were found in 47.5% of CVAs cases, including 38.6% with numerical chromosomal aberrations. Pathogenic CNVs accounted for 14.5% of cases with CVAs and normal karyotype. Thus, our study highlights the importance of assessing the anatomy of the fetus, and of the genetic testing (preferably aCGH) that should be offered in all CVA and ECM cases.pl
dc.affiliationWydział Lekarski : Instytut Pediatriipl
dc.affiliationWydział Lekarski : Klinika Położnictwa i Perinatologiipl
dc.affiliationWydział Zarządzania i Komunikacji Społecznej : Katedra Systemów Informatycznychpl
dc.cm.id109323pl
dc.cm.idOmegaUJCM1ee62c7e297f4f08ac884b17cf08ab41pl
dc.contributor.authorWójtowicz, Anna - 129655 pl
dc.contributor.authorMadetko-Talowska, Anna - 200563 pl
dc.contributor.authorWójtowicz, Wojciech - 394281 pl
dc.contributor.authorSzewczyk, Katarzyna - 137770 pl
dc.contributor.authorHuras, Hubert - 129736 pl
dc.contributor.authorBik-Multanowski, Mirosław - 128777 pl
dc.date.accession2022-08-31pl
dc.date.accessioned2022-09-07T16:14:29Z
dc.date.available2022-09-07T16:14:29Z
dc.date.issued2022pl
dc.date.openaccess0
dc.description.accesstimew momencie opublikowania
dc.description.number16pl
dc.description.versionostateczna wersja wydawcy
dc.description.volume19pl
dc.identifier.articleid10019pl
dc.identifier.doi10.3390/ijerph191610019pl
dc.identifier.eissn1660-4601pl
dc.identifier.issn1661-7827pl
dc.identifier.urihttps://ruj.uj.edu.pl/xmlui/handle/item/298962
dc.identifier.weblinkhttps://www.mdpi.com/1660-4601/19/16/10019pl
dc.languageengpl
dc.language.containerengpl
dc.pbn.affiliationDziedzina nauk medycznych i nauk o zdrowiu : nauki medycznepl
dc.rightsUdzielam licencji. Uznanie autorstwa 4.0 Międzynarodowa*
dc.rights.licenceCC-BY
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/legalcode.pl*
dc.share.typeOtwarte czasopismo
dc.subject.encongenital heart defectpl
dc.subject.envascular anomalypl
dc.subject.enarray comparative genomic hybridizationpl
dc.subject.encopy number variantspl
dc.subject.enprenatal diagnosispl
dc.subject.enultrasoundpl
dc.subtypeArticlepl
dc.titleCardiovascular anomalies among 1005 fetuses referred to invasive prenatal testing - a comprehensive cohort study of associated chromosomal aberrationspl
dc.title.journalInternational Journal of Environmental Research and Public Healthpl
dc.typeJournalArticlepl
dspace.entity.typePublication
dc.abstract.enpl
This retrospective cohort study comprehensively evaluates cardiovascular anomalies (CVAs) and associated extracardiac structural malformations (ECMs) among 1005 fetuses undergoing invasive prenatal testing at a single tertiary Polish center in the context of chromosomal aberrations detected in them by array comparative genomic hybridization (aCGH) and G-band karyotyping. The results of our study show that CVAs are among the most common malformations detected in fetuses undergoing invasive prenatal testing, as they affected 20% of all cases seen in our department. Septal defects predominated among fetuses with numerical aberrations, while conotruncal defects were the most common findings among fetuses with pathogenic copy number variants (CNVs). In 61% of cases, CVAs were associated with ECMs (the diagnosis was confirmed postnatally or in cases of pregnancy termination by means of autopsy). The most common ECMs were anomalies of the face and neck, followed by skeletal defects. In total, pathogenic chromosomal aberrations were found in 47.5% of CVAs cases, including 38.6% with numerical chromosomal aberrations. Pathogenic CNVs accounted for 14.5% of cases with CVAs and normal karyotype. Thus, our study highlights the importance of assessing the anatomy of the fetus, and of the genetic testing (preferably aCGH) that should be offered in all CVA and ECM cases.
dc.affiliationpl
Wydział Lekarski : Instytut Pediatrii
dc.affiliationpl
Wydział Lekarski : Klinika Położnictwa i Perinatologii
dc.affiliationpl
Wydział Zarządzania i Komunikacji Społecznej : Katedra Systemów Informatycznych
dc.cm.idpl
109323
dc.cm.idOmegapl
UJCM1ee62c7e297f4f08ac884b17cf08ab41
dc.contributor.authorpl
Wójtowicz, Anna - 129655
dc.contributor.authorpl
Madetko-Talowska, Anna - 200563
dc.contributor.authorpl
Wójtowicz, Wojciech - 394281
dc.contributor.authorpl
Szewczyk, Katarzyna - 137770
dc.contributor.authorpl
Huras, Hubert - 129736
dc.contributor.authorpl
Bik-Multanowski, Mirosław - 128777
dc.date.accessionpl
2022-08-31
dc.date.accessioned
2022-09-07T16:14:29Z
dc.date.available
2022-09-07T16:14:29Z
dc.date.issuedpl
2022
dc.date.openaccess
0
dc.description.accesstime
w momencie opublikowania
dc.description.numberpl
16
dc.description.version
ostateczna wersja wydawcy
dc.description.volumepl
19
dc.identifier.articleidpl
10019
dc.identifier.doipl
10.3390/ijerph191610019
dc.identifier.eissnpl
1660-4601
dc.identifier.issnpl
1661-7827
dc.identifier.uri
https://ruj.uj.edu.pl/xmlui/handle/item/298962
dc.identifier.weblinkpl
https://www.mdpi.com/1660-4601/19/16/10019
dc.languagepl
eng
dc.language.containerpl
eng
dc.pbn.affiliationpl
Dziedzina nauk medycznych i nauk o zdrowiu : nauki medyczne
dc.rights*
Udzielam licencji. Uznanie autorstwa 4.0 Międzynarodowa
dc.rights.licence
CC-BY
dc.rights.uri*
http://creativecommons.org/licenses/by/4.0/legalcode.pl
dc.share.type
Otwarte czasopismo
dc.subject.enpl
congenital heart defect
dc.subject.enpl
vascular anomaly
dc.subject.enpl
array comparative genomic hybridization
dc.subject.enpl
copy number variants
dc.subject.enpl
prenatal diagnosis
dc.subject.enpl
ultrasound
dc.subtypepl
Article
dc.titlepl
Cardiovascular anomalies among 1005 fetuses referred to invasive prenatal testing - a comprehensive cohort study of associated chromosomal aberrations
dc.title.journalpl
International Journal of Environmental Research and Public Health
dc.typepl
JournalArticle
dspace.entity.type
Publication
Affiliations

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