Introduction
Undiagnosed diseases in children account for about 3-6% of all childhood diseases. 80% of these special children suffer from rare genetic diseases. These types of difficult-to-diagnose diseases often require a large amount of medical resources, resulting in financial, social, and medical burdens.
To ensure the health rights and welfare of children, the Ministry of Health and Welfare, in collaboration with the National Taiwan University Children's Hospital, established the " Pediatric Undiagnosed Disease Platform " in 2022 to plan for a comprehensive and safe network referral system for critically ill children, assist in the comprehensive clinical assessment of patients, provide diagnostic and treatment directions, and enable every child, especially those with severe illnesses, to receive the most appropriate medical care.
Ways to solve undiagnosed diseases in children
Since 2015, National Taiwan University Children's Hospital has introduced next-generation sequencing testing technology and started the high-speed next-generation gene diagnosis project for critically ill children and newborns in 2017, to provide accurate genetic diagnosis in the shortest possible time. Through multi-disciplinary discussions, the patient's clinical manifestations can be clarified and the disease can be outlined. The establishment of a team collaboration and multi-disciplinary diagnosis platform, combined with clinical tests, will help improve the diagnosis rate of difficult diseases and optimize medical care for children.
Case identification criteria
- Complex cases that require multi-disciplinary care.
- Patients who have undergone frequent examinations but have not been diagnosed.
- Critically ill patients in the intensive care unit.
Consultation and referral process
If there is a suspected case that requires assistance in confirming the diagnosis, please call the hotline at 02-23123456#271967 (service hours: Monday to Friday, 9:00 am to 5:30 pm) or write an email to mdngs@ntuh.gov.tw for consultation and application.