{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,22]],"date-time":"2025-02-22T00:20:23Z","timestamp":1740183623027,"version":"3.37.3"},"reference-count":43,"publisher":"Elsevier BV","issue":"01","license":[{"start":{"date-parts":[[2021,11,9]],"date-time":"2021-11-09T00:00:00Z","timestamp":1636416000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Glob Med Genet"],"published-print":{"date-parts":[[2022,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The prenatal diagnosis of congenital heart disease (CHD) is important because of mortality risk. The onset of CHD varies, and depending on the malformation type, the risk of aneuploidy is changed. To identify possible genetic alterations in CHD, G-banding, chromosomal microarray or if needed DNA mutation analysis and direct sequence analysis should be planned.<\/jats:p><jats:p>In present study, to identify genetic alterations, cell culture, karyotype analysis, and single nucleotide polymorphism, array analyses were conducted on a total 950 samples. Interventional prenatal genetic examination was performed on 23 (2, 4%, 23\/950) fetal CHD cases. Chromosomal abnormalities were detected in 5 out of 23 cases (21, 7%). Detected chromosomal abnormalities were 10q23.2 deletion, trisomy 18, 8p22.3-p23.2 deletion, 8q21.3-q24.3 duplication, 11q24.2q24.5 (9\u2009Mb) deletion, and 8p22p12 (16.8\u2009Mb) deletion. Our study highlights the importance of genetic testing in CHD.<\/jats:p>","DOI":"10.1055\/s-0041-1736566","type":"journal-article","created":{"date-parts":[[2021,11,9]],"date-time":"2021-11-09T23:53:21Z","timestamp":1636502001000},"page":"029-033","source":"Crossref","is-referenced-by-count":1,"title":["Investigation of Genetic Alterations in Congenital Heart Diseases in Prenatal Period"],"prefix":"10.1016","volume":"09","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9003-1449","authenticated-orcid":false,"given":"Emine Ikbal","family":"Atli","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine, Trakya University, Edirne, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Engin","family":"Atli","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine, Trakya University, Edirne, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sinem","family":"Yalcintepe","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine, Trakya University, Edirne, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Selma","family":"Demir","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine, Trakya University, Edirne, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rasime","family":"Kalkan","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine, Near East University, Nicosia, Cyprus"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cisem","family":"Akurut","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine, Trakya University, Edirne, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yasemin","family":"Ozen","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine, Trakya University, Edirne, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hakan","family":"Gurkan","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine, Trakya University, Edirne, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","published-online":{"date-parts":[[2021,11,9]]},"reference":[{"issue":"05","key":"ref1","first-page":"1","article-title":"Deaths: leading causes for 2014","volume":"65","author":"M Heron","year":"2016","journal-title":"Natl Vital Stat Rep"},{"issue":"06","key":"ref2","doi-asserted-by":"crossref","first-page":"631","DOI":"10.1002\/uog.14882","article-title":"Prenatal diagnosis of critical congenital heart disease reduces risk of death from cardiovascular compromise prior to planned neonatal cardiac surgery: a meta-analysis","volume":"45","author":"B J Holland","year":"2015","journal-title":"Ultrasound Obstet Gynecol"},{"issue":"21","key":"ref3","doi-asserted-by":"crossref","first-page":"2183","DOI":"10.1161\/01.cir.0000437597.44550.5d","article-title":"Diagnosis and treatment of fetal cardiac disease: a scientific statement from the American Heart Association","volume":"129","author":"M T Donofrio","year":"2014","journal-title":"Circulation"},{"issue":"01","key":"ref4","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1002\/uog.2803","article-title":"A systematic review of the accuracy of first-trimester ultrasound examination for detecting major congenital heart disease","volume":"28","author":"S V Rasiah","year":"2006","journal-title":"Ultrasound Obstet Gynecol"},{"issue":"01","key":"ref5","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1016\/j.jpeds.2009.01.050","article-title":"Prenatal detection of congenital heart disease","volume":"155","author":"M K Friedberg","year":"2009","journal-title":"J Pediatr"},{"issue":"05","key":"ref6","doi-asserted-by":"crossref","first-page":"552","DOI":"10.1002\/uog.6309","article-title":"Extracardiac lesions and chromosomal abnormalities associated with major fetal heart defects: comparison of intrauterine, postnatal and postmortem diagnoses","volume":"33","author":"M S Song","year":"2009","journal-title":"Ultrasound Obstet Gynecol"},{"issue":"02","key":"ref7","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1016\/0002-9378(88)90166-4","article-title":"The frequency of aneuploidy in prenatally diagnosed congenital heart disease: an indication for fetal karyotyping","volume":"158","author":"J A Copel","year":"1988","journal-title":"Am J Obstet Gynecol"},{"issue":"13","key":"ref8","doi-asserted-by":"crossref","first-page":"1116","DOI":"10.1002\/pd.1068","article-title":"Congenital heart disease and aneuploidy","volume":"24","author":"R C Wimalasundera","year":"2004","journal-title":"Prenat Diagn"},{"issue":"04","key":"ref9","doi-asserted-by":"crossref","first-page":"390.e1","DOI":"10.1016\/j.ajog.2009.06.035","article-title":"Prevalence and likelihood ratios for aneuploidy in fetuses diagnosed prenatally with isolated congenital cardiac defects","volume":"201","author":"M G Tuuli","year":"2009","journal-title":"Am J Obstet Gynecol"},{"issue":"06","key":"ref10","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1002\/pd.4575","article-title":"Prenatal detection of structural cardiac defects and presence of associated anomalies: a retrospective observational study of 1262 fetal echocardiograms","volume":"35","author":"F Mone","year":"2015","journal-title":"Prenat Diagn"},{"issue":"06","key":"ref11","doi-asserted-by":"crossref","first-page":"2068","DOI":"10.1016\/j.ajog.2004.05.022","article-title":"Prenatal diagnosis of aneuploidy and deletion 22q11.2 in fetuses with ultrasound detection of cardiac defects","volume":"191","author":"J W Moore","year":"2004","journal-title":"Am J Obstet Gynecol"},{"issue":"01","key":"ref12","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1016\/S0022-3476(89)80605-5","article-title":"Congenital cardiovascular malformations associated with chromosome abnormalities: an epidemiologic study","volume":"114","author":"C Ferencz","year":"1989","journal-title":"J Pediatr"},{"issue":"06","key":"ref13","doi-asserted-by":"crossref","first-page":"e006906","DOI":"10.1161\/JAHA.117.006906","article-title":"Advances in the understanding of the genetic determinants of congenital heart disease and their impact on clinical outcomes","volume":"7","author":"M W Russell","year":"2018","journal-title":"J Am Heart Assoc"},{"issue":"01","key":"ref14","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1002\/uog.14695","article-title":"Array comparative genomic hybridization and fetal congenital heart defects: a systematic review and meta-analysis","volume":"45","author":"F A Jansen","year":"2015","journal-title":"Ultrasound Obstet Gynecol"},{"issue":"21","key":"ref15","doi-asserted-by":"crossref","first-page":"e653","DOI":"10.1161\/CIR.0000000000000606","article-title":"Genetic basis for congenital heart disease: revisited: a scientific statement from the American Heart Association","volume":"138","author":"M E Pierpont","year":"2018","journal-title":"Circulation"},{"issue":"08","key":"ref16","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1097\/OGX.0000000000000702","article-title":"Congenital heart disease: prenatal diagnosis and genetic associations","volume":"74","author":"M K Hopkins","year":"2019","journal-title":"Obstet Gynecol Surv"},{"issue":"01","key":"ref17","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1002\/uog.2677","article-title":"Cardiac screening examination of the fetus: guidelines for performing the \u201cbasic\u201d and \u201cextended basic\u201d cardiac scan","volume":"27","author":"International Society of Ultrasound in Obstetrics #38","year":"2006","journal-title":"Ultrasound Obstet Gynecol"},{"issue":"02","key":"ref18","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1002\/uog.6115","article-title":"ISUOG consensus statement: what constitutes a fetal echocardiogram?","volume":"32","author":"W Lee","year":"2008","journal-title":"Ultrasound Obstet Gynecol"},{"issue":"03","key":"ref19","doi-asserted-by":"crossref","first-page":"294","DOI":"10.1136\/heart.84.3.294","article-title":"Prenatal diagnosis of congenital heart disease in the northern region of England: benefits of a training programme for obstetric ultrasonographers","volume":"84","author":"S Hunter","year":"2000","journal-title":"Heart"},{"issue":"04","key":"ref20","doi-asserted-by":"crossref","first-page":"414","DOI":"10.1136\/heart.83.4.414","article-title":"Temporal variability in birth prevalence of cardiovascular malformations","volume":"83","author":"C Wren","year":"2000","journal-title":"Heart"},{"issue":"05","key":"ref21","doi-asserted-by":"crossref","first-page":"616","DOI":"10.1002\/uog.15742","article-title":"Prenatal diagnosis of congenital heart defects: accuracy and discrepancies in a multicenter cohort","volume":"47","author":"C L van Velzen","year":"2016","journal-title":"Ultrasound Obstet Gynecol"},{"issue":"06","key":"ref22","doi-asserted-by":"crossref","first-page":"1059","DOI":"10.1111\/j.1442-200X.2011.03450.x","article-title":"Congenital heart disease in a Chinese hospital: pre- and postnatal detection, incidence, clinical characteristics and outcomes","volume":"53","author":"Z Yu","year":"2011","journal-title":"Pediatr Int"},{"issue":"02","key":"ref23","first-page":"125","article-title":"Prevalence and distribution of structural heart diseases in high and low risk pregnancies","volume":"11","author":"N Ozbarlas","year":"2011","journal-title":"Anadolu Kardiyol Derg"},{"issue":"03","key":"ref24","doi-asserted-by":"crossref","first-page":"474","DOI":"10.1111\/j.1447-0756.2010.01222.x","article-title":"Prenatal diagnosis of congenital heart disease: trends in pregnancy termination rate, and perinatal and 1-year infant mortalities in Korea between 1994 and 2005","volume":"36","author":"J E Lee","year":"2010","journal-title":"J Obstet Gynaecol Res"},{"issue":"12","key":"ref25","doi-asserted-by":"crossref","first-page":"1134","DOI":"10.1002\/pd.2847","article-title":"Audit of 10 years of referrals for fetal echocardiography","volume":"31","author":"S A Clur","year":"2011","journal-title":"Prenat Diagn"},{"issue":"08","key":"ref26","doi-asserted-by":"crossref","first-page":"841","DOI":"10.1161\/CIRCULATIONAHA.110.958405","article-title":"Congenital heart defects in Europe: prevalence and perinatal mortality, 2000 to 2005","volume":"123","author":"H Dolk","year":"2011","journal-title":"Circulation"},{"issue":"01","key":"ref27","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1016\/j.ejmg.2011.10.003","article-title":"BMPR1A is a candidate gene for congenital heart defects associated with the recurrent 10q22q23 deletion syndrome","volume":"55","author":"J Breckpot","year":"2012","journal-title":"Eur J Med Genet"},{"issue":"05","key":"ref28","doi-asserted-by":"crossref","first-page":"2878","DOI":"10.1073\/pnas.042390499","article-title":"Endocardial cushion and myocardial defects after cardiac myocyte-specific conditional deletion of the bone morphogenetic protein receptor ALK3","volume":"99","author":"V Gaussin","year":"2002","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"03","key":"ref29","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1161\/01.RES.0000177862.85474.63","article-title":"Alk3\/Bmpr1a receptor is required for development of the atrioventricular canal into valves and annulus fibrosus","volume":"97","author":"V Gaussin","year":"2005","journal-title":"Circ Res"},{"issue":"08","key":"ref31","doi-asserted-by":"crossref","first-page":"1661","DOI":"10.1002\/ajmg.a.32896","article-title":"Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia","volume":"149A","author":"M J Wat","year":"2009","journal-title":"Am J Med Genet A"},{"issue":"01","key":"ref32","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1002\/ajmg.a.20054","article-title":"Truncus arteriosus and duplication 8q","volume":"121A","author":"M C Digilio","year":"2003","journal-title":"Am J Med Genet A"},{"issue":"04","key":"ref33","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1002\/ajmg.1320470415","article-title":"Natural history of the recombinant (8) syndrome","volume":"47","author":"E Sujansky","year":"1993","journal-title":"Am J Med Genet"},{"issue":"02","key":"ref34","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1002\/ajmg.a.36292","article-title":"Periventricular nodular heterotopia and transverse limb reduction defect in a woman with interstitial 11q24 deletion in the Jacobsen syndrome region","volume":"164A","author":"J So","year":"2014","journal-title":"Am J Med Genet A"},{"issue":"10","key":"ref35","doi-asserted-by":"crossref","first-page":"2551","DOI":"10.1002\/ajmg.a.35621","article-title":"Interstitial deletion of 11q-implicating the KIRREL3 gene in the neurocognitive delay associated with Jacobsen syndrome","volume":"158A","author":"A Guerin","year":"2012","journal-title":"Am J Med Genet A"},{"key":"ref36","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1186\/1755-8166-1-23","article-title":"Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH","volume":"1","author":"C Tyson","year":"2008","journal-title":"Mol Cytogenet"},{"issue":"02","key":"ref37","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1007\/s10048-008-0157-x","article-title":"Chromosomal microarray mapping suggests a role for BSX and Neurogranin in neurocognitive and behavioral defects in the 11q terminal deletion disorder (Jacobsen syndrome)","volume":"10","author":"C D Coldren","year":"2009","journal-title":"Neurogenetics"},{"issue":"12","key":"ref38","doi-asserted-by":"crossref","first-page":"3019","DOI":"10.1002\/ajmg.a.37345","article-title":"11q24.2-25 micro-rearrangements in autism spectrum disorders: relation to brain structures","volume":"167A","author":"A Maruani","year":"2015","journal-title":"Am J Med Genet A"},{"issue":"01","key":"ref39","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1002\/ajmg.a.30090","article-title":"The 11q terminal deletion disorder: a prospective study of 110 cases","volume":"129A","author":"P D Grossfeld","year":"2004","journal-title":"Am J Med Genet A"},{"issue":"09","key":"ref40","doi-asserted-by":"crossref","first-page":"2508","DOI":"10.1172\/JCI24403","article-title":"Ets-1 is a critical regulator of Ang II-mediated vascular inflammation and remodeling","volume":"115","author":"Y Zhan","year":"2005","journal-title":"J Clin Invest"},{"issue":"19","key":"ref41","doi-asserted-by":"crossref","first-page":"2728","DOI":"10.1101\/gad.1467706","article-title":"FGF signaling delineates the cardiac progenitor field in the simple chordate, Ciona intestinalis","volume":"20","author":"B Davidson","year":"2006","journal-title":"Genes Dev"},{"issue":"13","key":"ref42","doi-asserted-by":"crossref","first-page":"3015","DOI":"10.1242\/dev.00488","article-title":"pannier and pointedP2 act sequentially to regulate Drosophila heart development","volume":"130","author":"A D Alvarez","year":"2003","journal-title":"Development"},{"issue":"04","key":"ref43","doi-asserted-by":"crossref","first-page":"648","DOI":"10.1093\/hmg\/ddp532","article-title":"Deletion of ETS-1, a gene in the Jacobsen syndrome critical region, causes ventricular septal defects and abnormal ventricular morphology in mice","volume":"19","author":"M Ye","year":"2010","journal-title":"Hum Mol Genet"},{"issue":"09","key":"ref44","doi-asserted-by":"crossref","first-page":"1543","DOI":"10.1242\/dev.047696","article-title":"Ets1 is required for proper migration and differentiation of the cardiac neural crest","volume":"137","author":"Z Gao","year":"2010","journal-title":"Development"}],"container-title":["Global Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/s-0041-1736566.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,1,9]],"date-time":"2025-01-09T15:22:53Z","timestamp":1736436173000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/s-0041-1736566"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,11,9]]},"references-count":43,"journal-issue":{"issue":"01","published-online":{"date-parts":[[2022,2,11]]},"published-print":{"date-parts":[[2022,3]]}},"URL":"https:\/\/doi.org\/10.1055\/s-0041-1736566","archive":["Portico","CLOCKSS"],"relation":{},"ISSN":["2699-9404"],"issn-type":[{"type":"electronic","value":"2699-9404"}],"subject":[],"published":{"date-parts":[[2021,11,9]]}}}