{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,10]],"date-time":"2026-04-10T09:30:06Z","timestamp":1775813406529,"version":"3.50.1"},"reference-count":20,"publisher":"Springer Science and Business Media LLC","issue":"10","license":[{"start":{"date-parts":[[2021,5,7]],"date-time":"2021-05-07T00:00:00Z","timestamp":1620345600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2021,5,7]],"date-time":"2021-05-07T00:00:00Z","timestamp":1620345600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Eur J Pediatr"],"published-print":{"date-parts":[[2021,10]]},"DOI":"10.1007\/s00431-021-04097-w","type":"journal-article","created":{"date-parts":[[2021,5,7]],"date-time":"2021-05-07T16:03:02Z","timestamp":1620403382000},"page":"3219-3227","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Genetic evaluation of newborns with critical congenital heart defects admitted to the intensive care unit"],"prefix":"10.1007","volume":"180","author":[{"given":"Aleksandra","family":"Miletic","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jelena Ruml","family":"Stojanovic","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vojislav","family":"Parezanovic","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Snezana","family":"Rsovac","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Danijela","family":"Drakulic","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ivan","family":"Soldatovic","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marija","family":"Mijovic","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brankica","family":"Bosankic","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hristina","family":"Petrovic","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nikola","family":"Borlja","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Milena","family":"Milivojevic","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana","family":"Marjanovic","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marija","family":"Brankovic","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2753-3096","authenticated-orcid":false,"given":"Goran","family":"Cuturilo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,5,7]]},"reference":[{"key":"4097_CR1","doi-asserted-by":"publisher","first-page":"923","DOI":"10.1161\/CIRCRESAHA.116.309140","volume":"120","author":"S Zaidi","year":"2017","unstructured":"Zaidi S, Brueckner M (2017) Genetics and genomics of congenital heart disease. Circ Res 120:923\u2013940","journal-title":"Circ Res"},{"key":"4097_CR2","doi-asserted-by":"publisher","first-page":"e653","DOI":"10.1161\/CIR.0000000000000606","volume":"138","author":"ME Pierpont","year":"2018","unstructured":"Pierpont ME, Brueckner M, Chung WK, Garg V, Lacro RV, McGuire A, Mital S, Priest JR, Pu WT, Roberts A, Ware SM, Gelb BD, Russell MW, American Heart Association Council on Cardiovascular Disease in the Young; Council on Cardiovascular and Stroke Nursing; and Council on Genomic and Precision Medicine (2018) Genetic basis for congenital heart disease: revised. Circulation 138:e653\u2013e711","journal-title":"Circulation"},{"key":"4097_CR3","doi-asserted-by":"publisher","first-page":"91","DOI":"10.2174\/157340310791162703","volume":"6","author":"AA Richards","year":"2010","unstructured":"Richards AA, Garg V (2010) Genetics of congenital heart disease. Curr Cardiol Rev 6:91\u201397","journal-title":"Curr Cardiol Rev"},{"key":"4097_CR4","doi-asserted-by":"crossref","unstructured":"Jerves T, Beaton A, Kruszka P (2020) The genetic workup for structural congenital heart disease. Am J Med Genet C Semin Med Genet 184(1):178\u2013186","DOI":"10.1002\/ajmg.c.31759"},{"key":"4097_CR5","first-page":"1","volume":"9999A","author":"RC Ahrens-Nicklas","year":"2016","unstructured":"Ahrens-Nicklas RC, Khan S, Garbarini J, Woyciechowski S, D\u2019Alesandro L, Zackai EH, Deardof MA, Deardorff MA, Goldmuntz E (2016) Utility of genetic evaluation in infants with congenital heart defects admitted to the cardiac intensive care unit. Am J Med Genet 9999A:1\u20138","journal-title":"Am J Med Genet"},{"key":"4097_CR6","doi-asserted-by":"crossref","unstructured":"Bachman KK, DeWard SJ, Chrzsostomou C, Munoy R, Madan-Khetarpal S (2015) Array CGH as a first tier test for neonates with congenital heart disease. Cardiol Young 25(1):115\u2013122","DOI":"10.1017\/S1047951113001868"},{"key":"4097_CR7","doi-asserted-by":"publisher","first-page":"E131","DOI":"10.1111\/chd.12241","volume":"10","author":"JR Buckley","year":"2015","unstructured":"Buckley JR, Kavarana MN, Chowdhury SM, Scheurer MA (2015) Current practise and utility of chromosome microarray analysis in infants undergoing cardiac surgery. Congenit Heart Dis 10:E131\u2013E138","journal-title":"Congenit Heart Dis"},{"issue":"6","key":"4097_CR8","first-page":"7772","volume":"75","author":"A Syrmou","year":"2013","unstructured":"Syrmou A, Tzetis M, Fryssira H, Kosma K, Olkonmakis V, Giannikou K, Makrythanasis P, Kitsiou-Tzeli S, Kanavakis E (2013) Array comparative genomic hybridization as a clinical diagnostic tool in syndromic and nonsyndromic congenital heart disease. Pediatr Res 75(6):7772\u20137776","journal-title":"Pediatr Res"},{"key":"4097_CR9","doi-asserted-by":"publisher","first-page":"227","DOI":"10.1159\/000477226","volume":"8","author":"RA Monteiro","year":"2017","unstructured":"Monteiro RA, Freitas ML, Vianna GS et al (2017) Major contribution of genomic copy number variation in syndromic congenital heart disease: the use of MLPA as the first genetic test. Mol Syndromol 8:227\u2013235","journal-title":"Mol Syndromol"},{"key":"4097_CR10","doi-asserted-by":"publisher","first-page":"86","DOI":"10.1016\/j.jbiotec.2019.04.025","volume":"299","author":"O Nagy","year":"2019","unstructured":"Nagy O, Szakszon K, Orsolya Biro B, Mogyorosy G, Nagy D, Nagy B, Balogh I, Ujfalusi A (2019) Copy number variants detection by microarray and multiplex ligation dependent probe amplification in congenital heart disease. J Biotech 299:86\u201395","journal-title":"J Biotech"},{"key":"4097_CR11","first-page":"9","volume":"20","author":"ET Mutlu","year":"2018","unstructured":"Mutlu ET, Aykan HH, Karagoz T (2018) Analysis of gene copy number variations in patients with congenital heart disease using multiplex ligation-dependent probe amplification. Anatol J Cardiol 20:9\u201315","journal-title":"Anatol J Cardiol"},{"key":"4097_CR12","doi-asserted-by":"crossref","unstructured":"Li Z, Huang J, Liang B et al (2019) Copy number variants in the GATA4, NKX2.5, TBX5, BMP4, CRELD1 and 22q11.2 gene regions in Chinese children with sporadic congenital heart disease. J Clin Lab Anal 33(2):e22660","DOI":"10.1002\/jcla.22660"},{"issue":"454","key":"4097_CR13","first-page":"1","volume":"9","author":"M Delea","year":"2018","unstructured":"Delea M, Espeche DL, Bruque CD et al (2018) Genetic imbalances in Argentinian patients with congenital conotruncal heart defects. Genes 9(454):1\u201314","journal-title":"Genes"},{"key":"4097_CR14","doi-asserted-by":"publisher","first-page":"720","DOI":"10.1002\/ajmg.a.35214","volume":"158A","author":"KM Sorensen","year":"2012","unstructured":"Sorensen KM, El-Segaier M, Fernlund E et al (2012) Screening of congenital heart disease patients using multiplex ligation-dependent probe amplification: early diagnosis of syndromic patients. Am J Med Genet 158A:720\u2013725","journal-title":"Am J Med Genet"},{"key":"4097_CR15","doi-asserted-by":"publisher","first-page":"714","DOI":"10.1002\/bdra.20403","volume":"79","author":"LD Botto","year":"2007","unstructured":"Botto LD, Lin AE, Riehle-Colarusso T, Malik S, Correa A, The National Birth Defects Prevention Study (2007) Seeking causes: classifying and evaluating congenital heart defects in etiologic studies. Birth Defects Res (Part A) 79:714\u2013727","journal-title":"Birth Defects Res (Part A)"},{"key":"4097_CR16","doi-asserted-by":"crossref","unstructured":"Ruml Stojanovic J, Miletic A, Peterlin B, Maver A, Mijovic M, Borlja N, Dimitrijevic B, Soldatovic I, Cuturilo G (2020) Diagnostic and clinical utility of clinical exome sequencing in children with moderate and severe global developmental delay\/intellectual disability. J Child Neurol 35(2):116\u2013131","DOI":"10.1177\/0883073819879835"},{"key":"4097_CR17","doi-asserted-by":"publisher","first-page":"995","DOI":"10.1016\/j.ajhg.2018.10.020","volume":"103","author":"NT Loges","year":"2019","unstructured":"Loges NT, Dinny A, Maver A et al (2019) Recessive DNAH9 loss of function mutations cause laterality defects and subtle respiratory ciliary-beating defects. Am J Hum Genet 103:995\u20131008","journal-title":"Am J Hum Genet"},{"key":"4097_CR18","doi-asserted-by":"publisher","first-page":"1680","DOI":"10.1007\/s00246-017-1713-7","volume":"38","author":"G Cuturilo","year":"2017","unstructured":"Cuturilo G, Drakulic D, Jovanovic I, Ilic S, Kalanj J, Vulicevic I, Raus M, Skoric D, Mijovic M, Medjo B, Rsovac S, Stevanovic M (2017) The impact of 22q11.2 microdeletion on cardiac surgery postoperative outcome. Pediatr Cardiol 38:1680\u20131685","journal-title":"Pediatr Cardiol"},{"issue":"6","key":"4097_CR19","doi-asserted-by":"publisher","first-page":"707","DOI":"10.1097\/MOP.0000000000000682","volume":"30","author":"CG Geddes","year":"2018","unstructured":"Geddes CG, Earing GM (2018) Genetic evaluation of patients with congenital heart disease. Curr Opin Pediatr 30(6):707\u2013713","journal-title":"Curr Opin Pediatr"},{"issue":"9","key":"4097_CR20","doi-asserted-by":"publisher","first-page":"526","DOI":"10.6061\/clinics\/2017(09)02","volume":"72","author":"EA Zanardo","year":"2017","unstructured":"Zanardo EA, Dutra RL (2017) Cytogenetic assessment of the diagnosis of 93 patients with developmental delay and multiple congenital abnormalities: The Brazilian expirience. Clinics 72(9):526\u2013537","journal-title":"Clinics"}],"container-title":["European Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00431-021-04097-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00431-021-04097-w\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00431-021-04097-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,9,9]],"date-time":"2021-09-09T11:08:40Z","timestamp":1631185720000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00431-021-04097-w"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,5,7]]},"references-count":20,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2021,10]]}},"alternative-id":["4097"],"URL":"https:\/\/doi.org\/10.1007\/s00431-021-04097-w","relation":{},"ISSN":["0340-6199","1432-1076"],"issn-type":[{"value":"0340-6199","type":"print"},{"value":"1432-1076","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,5,7]]},"assertion":[{"value":"18 March 2021","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"28 April 2021","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"30 April 2021","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"7 May 2021","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The study was approved by Ethics Committee of University Children\u2019s Hospital (reference number: 017\/626\/188).","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval"}},{"value":"Informed consent was obtained from parents of all participants.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to participate"}},{"value":"Informed consent was obtained from parents of all participants.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare no competing interests.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}