Michele P Migliavacca, Joselito Sobreira, Diana Bermeo, Mireille Gomes, Dayse Alencar, Luciane Sussuchi, Camila Alves Souza, Juliana Santos Silva, José Eduardo Kroll, Matheus Burger, Rodrigo Guarischi-Sousa, Darine Villela, Guilherme L Yamamoto, Fernanda Milanezi, Nelson Horigoshi, Regina Grigolli Cesar, Werther Brunow de Carvalho, Rachel Sayuri Honjo, Debora Romeo Bertola, Chong Ae Kim, Lucian de Souza, Renato S Procianoy, Rita C Silveria, Carla Rosenberg, Roberto Giugliani, Gustavo Aguiar Campana, Cristovam Scapulatempo-Neto, Nara Sobreira
In this pilot study, we aimed to evaluate the feasibility of whole genome sequencing (WGS) as a first-tier diagnostic test for infants hospitalized in neonatal intensive care units in the Brazilian healthcare system. The cohort presented here results from a joint collaboration between private and public hospitals in Brazil considering the initiative of a clinical laboratory to provide timely diagnosis for critically ill infants. We performed trio (proband and parents) WGS in 21 infants suspected of a genetic disease with an urgent need for diagnosis to guide medical care...
January 23, 2024: American Journal of Medical Genetics. Part A