20.500.12556/DiRROS-30046 The genetic architecture of congenital heart disease in neonatal intensive care unit patients the experience of University Medical Centre, Ljubljana Congenital heart disease (CHD) is the most commonly detected congenital anomaly and affects up to 1% of all live-born neonates. Current guidelines support the use of chromosomal microarray analysis (CMA) and next-generation sequencing (NGS) as diagnostic approaches to identify genetic causes. The aim of our study was to evaluate the diagnostic yield of CMA and NGS in a cohort of neonates with both isolated and syndromic CHD. The present study included 188 infants under 28 days of age with abnormal echocardiography findings hospitalized at the Department of Neonatology, UMC Ljubljana, between January 2014 and December 2023. Phenotypic data were obtained for each infant via retrospective medical chart review. We established the genetic diagnosis of 22 distinct syndromes in 17% (32/188) of neonates. The most frequent genetic diagnoses in diagnosed cases were 22q11.2 microdeletion and CHARGE syndromes, followed by Noonan syndrome and Williams syndrome. In addition, we detected variants of uncertain significance in 4.8% (9/188) of neonates. Timely genetic diagnosis is important for the detection of syndrome-related comorbidities, prognosis, reproductive genetic risks and, when appropriate, genetic testing of other family members. congenital heart disease chromosomal microarray analysis next-generation sequencing diagnostic yield true false true Angleški jezik Ni določen Neznano 2026-06-12 12:00:14 2026-06-12 12:00:14 2026-06-13 03:52:13 0000-00-00 00:00:00 2024 0 0 Nasl. z nasl. zaslona; Opis vira z dne 23. 9. 2024; str. 1-13 iss. 9, ǂ[article no.] ǂ1118 Vol. 14 2024 0000-00-00 Zaloznikova Objavljeno NiDoloceno 0000-00-00 0000-00-00 0000-00-00 616-053.2 2075-1729 10.3390/life14091118 208571907 RAZ_Peterlin_Ana_Marija_2024.pdf RAZ_Peterlin_Ana_Marija_2024.pdf 1 59C273B7BD8A3D9516D18800D90BD97F 41d60e5078ae6fa738b238b91a2e95851eeec69752f33ea4e41d4da0f33949b8 bab108db-6645-11f1-aebd-001a4af901a5 https://dirros.openscience.si/Dokument.php?lang=slv&id=45314 https://www.mdpi.com/2075-1729/14/9/1118 1 8c741adc-6645-11f1-aebd-001a4af901a5 https://dirros.openscience.si/Dokument.php?lang=slv&id=45313 Univerzitetni klinični center Ljubljana 0 0 0