000095821 001__ 95821
000095821 005__ 20210902121759.0
000095821 0247_ $$2doi$$a10.3390/jcm9082362
000095821 0248_ $$2sideral$$a120158
000095821 037__ $$aART-2020-120158
000095821 041__ $$aeng
000095821 100__ $$ade Castro, M.J.
000095821 245__ $$aRapid Phenotype-Driven Gene Sequencing with the NeoSeq Panel: A Diagnostic Tool for Critically Ill Newborns with Suspected Genetic Disease
000095821 260__ $$c2020
000095821 5060_ $$aAccess copy available to the general public$$fUnrestricted
000095821 5203_ $$aNew genomic sequencing techniques have shown considerable promise in the field of neonatology, increasing the diagnostic rate and reducing time to diagnosis. However, several obstacles have hindered the incorporation of this technology into routine clinical practice. We prospectively evaluated the diagnostic rate and diagnostic turnaround time achieved in newborns with suspected genetic diseases using a rapid phenotype-driven gene panel (NeoSeq) containing 1870 genes implicated in congenital malformations and neurological and metabolic disorders of early onset (<2 months of age). Of the 33 newborns recruited, a genomic diagnosis was established for 13 (39.4%) patients (median diagnostic turnaround time, 7.5 days), resulting in clinical management changes in 10 (76.9%) patients. An analysis of 12 previous prospective massive sequencing studies (whole genome (WGS), whole exome (WES), and clinical exome (CES) sequencing) in newborns admitted to neonatal intensive care units (NICUs) with suspected genetic disorders revealed a comparable median diagnostic rate (37.2%), but a higher median diagnostic turnaround time (22.3 days) than that obtained with NeoSeq. Our phenotype-driven gene panel, which is specific for genetic diseases in critically ill newborns is an affordable alternative to WGS and WES that offers comparable diagnostic efficacy, supporting its implementation as a first-tier genetic test in NICUs.
000095821 536__ $$9info:eu-repo/grantAgreement/ES/MICINN-ISCIII/PI17-01294
000095821 540__ $$9info:eu-repo/semantics/openAccess$$aby$$uhttp://creativecommons.org/licenses/by/3.0/es/
000095821 590__ $$a4.241$$b2020
000095821 591__ $$aMEDICINE, GENERAL & INTERNAL$$b39 / 169 = 0.231$$c2020$$dQ1$$eT1
000095821 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/publishedVersion
000095821 700__ $$aGonzalez-Vioque, E.
000095821 700__ $$aBarbosa-Gouveia, S.
000095821 700__ $$aSalguero, E.
000095821 700__ $$0(orcid)0000-0002-9641-0324$$aRite, S.$$uUniversidad de Zaragoza
000095821 700__ $$aLopez-Suarez, O.
000095821 700__ $$aPerez-Munuzuri, A.
000095821 700__ $$aCouce, M.L.
000095821 7102_ $$11011$$2670$$aUniversidad de Zaragoza$$bDpto. Microb.Ped.Radio.Sal.Pú.$$cÁrea Pediatría
000095821 773__ $$g9, 8 (2020), 2362 [14 pp]$$pJ. clin.med.$$tJOURNAL OF CLINICAL MEDICINE$$x2077-0383
000095821 8564_ $$s367355$$uhttps://zaguan.unizar.es/record/95821/files/texto_completo.pdf$$yVersión publicada
000095821 8564_ $$s480911$$uhttps://zaguan.unizar.es/record/95821/files/texto_completo.jpg?subformat=icon$$xicon$$yVersión publicada
000095821 909CO $$ooai:zaguan.unizar.es:95821$$particulos$$pdriver
000095821 951__ $$a2021-09-02-09:53:40
000095821 980__ $$aARTICLE