Version 1
: Received: 11 May 2024 / Approved: 13 May 2024 / Online: 13 May 2024 (12:12:36 CEST)
How to cite:
Peterlin, A.; Bertok, S.; Writzl, K.; Lovrečić, L.; Maver, A.; Debeljak, M.; Nosan, G. Genetic Architecture of CHD in NICU patients – UMC Ljubljana Experience. Preprints2024, 2024050840. https://doi.org/10.20944/preprints202405.0840.v1
Peterlin, A.; Bertok, S.; Writzl, K.; Lovrečić, L.; Maver, A.; Debeljak, M.; Nosan, G. Genetic Architecture of CHD in NICU patients – UMC Ljubljana Experience. Preprints 2024, 2024050840. https://doi.org/10.20944/preprints202405.0840.v1
Peterlin, A.; Bertok, S.; Writzl, K.; Lovrečić, L.; Maver, A.; Debeljak, M.; Nosan, G. Genetic Architecture of CHD in NICU patients – UMC Ljubljana Experience. Preprints2024, 2024050840. https://doi.org/10.20944/preprints202405.0840.v1
APA Style
Peterlin, A., Bertok, S., Writzl, K., Lovrečić, L., Maver, A., Debeljak, M., & Nosan, G. (2024). Genetic Architecture of CHD in NICU patients – UMC Ljubljana Experience. Preprints. https://doi.org/10.20944/preprints202405.0840.v1
Chicago/Turabian Style
Peterlin, A., Maruša Debeljak and Gregor Nosan. 2024 "Genetic Architecture of CHD in NICU patients – UMC Ljubljana Experience" Preprints. https://doi.org/10.20944/preprints202405.0840.v1
Abstract
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 by retrospective medical chart review. We established the genetic diagnosis of 22 distinct syndromes in 17% of neonates. The most common genetic diagnoses were 22q11.2 microdeletion (22.7%) and CHARGE syndromes (22.7%), Noonan syndrome (9.1%), and Williams syndrome (9.1%). In addition, we detected variants of uncertain significance in 4.8% 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.
Medicine and Pharmacology, Cardiac and Cardiovascular Systems
Copyright:
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
