Role Of Rapid Whole Exome Sequencing in Critically Ill Newborns with a Preliminary Diagnosis of Genetic Syndrome
Project no. 29629 · Status: Kapanmış (Yayın bekleniyor) · 2023
Summary
<p>Whole-exome sequencing (WES) enables the simultaneous sequencing of all approximately 20,000 genes in the human genome. Its use has increased substantially in recent years and has become one of the first-line diagnostic tests for children presenting with multisystem involvement and congenital anomalies. In monogenic disorders, its diagnostic yield has been reported to range between 30% and 50% in several studies. Although WES is now frequently used in clinical practice, it is not yet widely implemented in neonatal intensive care units.</p><p>In the management of critically ill patients, establishing a rapid and accurate diagnosis is of vital importance. Therefore, it is inevitable that genetic testing will soon become one of the first-line investigations for such cases. Early diagnosis in critically ill patients is crucial for initiating appropriate treatment, discontinuing unnecessary medications, detecting additional system anomalies at an early stage, and providing accurate family counseling.</p><p>In this context, our study aims to perform rapid whole-exome sequencing in eight patients admitted to the neonatal intensive care unit who presented with clinical findings and family history suggestive of a monogenic disorder. The patients were evaluated by a pediatric geneticist, and their physical examination findings were documented. Laboratory and clinical data were collected from patient files and recorded in case report forms. Whole-exome sequencing results will be analyzed in conjunction with the clinical findings, utilizing reference databases commonly employed in next-generation sequencing, with the goal of achieving a molecular genetic diagnosis.</p><p>This study aims to evaluate both the role of whole-exome sequencing in the diagnosis and management of critically ill neonates, and the potential advantages of rapid WES in this patient population.</p>