February 4, 2022
Keio University School of Medicine
Osaka Women's and Children's Hospital
National Center for Child Health and Development
Tokyo Metropolitan Children's Medical Center
Japan Agency for Medical Research and Development
Although Japan's neonatal care is known to be of the highest global standard, a challenge remains in that the cause of illness is unknown for about 10% of critically ill infants admitted to the neonatal intensive care unit. In response, a nationwide team of neonatologists and genetic researchers (led by Dr. Toshiki Takenouchi, a senior lecturer at the Department of Pediatrics, Keio University School of Medicine) established a network of 17 advanced perinatal medical centers. They attempted to determine the causes for 85 critically ill infants, whose conditions could not be determined by conventional testing methods, using a new method called genome analysis. The results revealed that approximately half (41 infants) had congenital genetic disorders. For about half of those whose results were identified (20 infants), changes were made to their examinations and treatment plans, demonstrating that this genome analysis is extremely useful as a new era of medical technology.
The results of this research were published in the online edition of "The Journal of Pediatrics," a leading international journal in the field of pediatrics, on February 3, 2022 (U.S. Eastern Time).
Please see below for the full press release.