Rapid Genome Sequencing Shows Diagnostic Utility In Infants With Congenital Heart Defects.

Autor:	Durbin MD; Indiana University School of Medicine, Indianapolis, IN.; Herman B Wells Center for Pediatric Research, Indianapolis, IN., Helvaty LR; Indiana University School of Medicine, Indianapolis, IN., Posorske A; Indiana University School of Medicine, Indianapolis, IN., Zhang S; Indiana University School of Medicine, Indianapolis, IN., Huang M; Indiana University Bloomington School of Public Health, Bloomington, IN., Li M; Indiana University Bloomington School of Public Health, Bloomington, IN., Abreu D; Indiana University School of Medicine, Indianapolis, IN., Fairman K; Washington University, St. Louis, MO., Geddes GC; Indiana University School of Medicine, Indianapolis, IN., Helm BM; Indiana University School of Medicine, Indianapolis, IN., Landis BJ; Indiana University School of Medicine, Indianapolis, IN.; Herman B Wells Center for Pediatric Research, Indianapolis, IN., McEntire A; Indiana University School of Medicine, Indianapolis, IN., Mitchell DK; Indiana University School of Medicine, Indianapolis, IN., Ware SM; Indiana University School of Medicine, Indianapolis, IN.; Herman B Wells Center for Pediatric Research, Indianapolis, IN.
Jazyk:	angličtina
Zdroj:	Research square [Res Sq] 2024 Mar 20. Date of Electronic Publication: 2024 Mar 20.
DOI:	10.21203/rs.3.rs-3976548/v1
Abstrakt:	Congenital heart disease (CHD) is the most common birth defect and a leading cause of infant mortality. CHD often has a genetic etiology and recent studies demonstrate utility in genetic testing. In clinical practice, decisions around genetic testing choices continue to evolve, and the incorporation of rapid genome sequencing (rGS) in CHD has not been well studied. Though smaller studies demonstrate the value of rGS, they also highlight the burden of results interpretation. We analyze genetic testing in CHD at two time-points, in 2018 and 2022-2023, across a change in clinical testing guidelines from chromosome microarray (CMA) to rGS. Analysis of 421 hospitalized infants with CHD demonstrated consistent genetic testing across time. Overall, after incorporation of rGS in 2022-2023, the diagnostic yield was 6.8% higher compared to 2018, and this pattern was consistent across all patient subtypes analyzed. In 2018, CMA was the most common test performed, with diagnostic results for CHD in 14.3%, while in 2022-2023, rGS was the most frequent test performed, with results diagnostic for CHD in 16.9%. Additionally, rGS identified 44% more unique genetic diagnoses than CMA. This is the largest study to highlight the value of rGS in CHD and has important implications for management. Competing Interests: Competing Interest: Authors declare there is no competing financial interests in relation to the work desribed.
Databáze:	MEDLINE
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