Daphna Marom, Adi Mory, Sivan Reytan-Miron, Yam Amir, Alina Kurolap, Julia Grinshpun Cohen, Yocheved Morhi, Tatiana Smolkin, Lior Cohen, Shmuel Zangen, Adel Shalata, Arieh Riskin, Amir Peleg, Karen Lavie-Nevo, Dror Mandel, Elana Chervinsky, Clari Felszer Fisch, Vered Fleisher Sheffer, Tzipora C Falik-Zaccai, Jonathan Rips, Noa Ofek Shlomai, Smadar Eventov Friedman, Calanit Hershkovich Shporen, Sagie Josefsberg Ben-Yehoshua, Aryeh Simmonds, Racheli Goldfarb Yaacobi, Sofia Bauer-Rusek, Hussam Omari, Karin Weiss, Ori Hochwald, Arie Koifman, Omer Globus, Nurit Assia Batzir, Naveh Yaron, Reeval Segel, Iris Morag, Orit Reish, Aviva Eliyahu, Leah Leibovitch, Marina Eskin Schwartz, Ramy Abramsky, Amit Hochberg, Anat Oron, Ehud Banne, Igor Portnov, Nadra Nasser Samra, Amihood Singer, Hagit Baris Feldman
IMPORTANCE: National implementation of rapid trio genome sequencing (rtGS) in a clinical acute setting is essential to ensure advanced and equitable care for ill neonates. OBJECTIVE: To evaluate the feasibility, diagnostic efficacy, and clinical utility of rtGS in neonatal intensive care units (NICUs) throughout Israel. DESIGN, SETTING, AND PARTICIPANTS: This prospective, public health care-based, multicenter cohort study was conducted from October 2021 to December 2022 with the Community Genetics Department of the Israeli Ministry of Health and all Israeli medical genetics institutes (n = 18) and NICUs (n = 25)...
February 5, 2024: JAMA Network Open