RESUMO
PURPOSE: Several studies have reported diagnostic yields up to 57% for rapid exome or genome sequencing (rES/GS) as a single test in neonatal intensive care unit (NICU) patients, but the additional yield of rES/GS compared with other available diagnostic options still remains unquantified in this population. METHODS: We retrospectively evaluated all genetic NICU consultations in a 2-year period. RESULTS: In 132 retrospectively evaluated NICU consultations 27 of 32 diagnoses (84.4%) were made using standard genetic workup. Most diagnoses (65.6%) were made within 16 days. Diagnostic ES yield was 5/29 (17.2%). Genetic diagnoses had a direct effect on clinical management in 90.6% (29/32) of patients. CONCLUSIONS: Our study shows that exome sequencing has a place in NICU diagnostics, but given the associated costs and the high yield of alternative diagnostic strategies, we recommend to first perform clinical genetic consultation.
Assuntos
Doenças do Recém-Nascido/diagnóstico , Doenças do Recém-Nascido/genética , Mapeamento Cromossômico/métodos , Exoma/genética , Feminino , Testes Genéticos/economia , Estudo de Associação Genômica Ampla/métodos , Humanos , Recém-Nascido , Terapia Intensiva Neonatal , Masculino , Estudos Retrospectivos , Sequenciamento do Exoma/economia , Sequenciamento do Exoma/métodosRESUMO
The original version of this Article contained an error in the spelling of the author Pleuntje J. van der Sluijs, which was incorrectly given as Eline (P. J.) van der Sluijs. This has now been corrected in both the PDF and HTML versions of the Article.