A year ago, on October 17, expanded neonatal screening for newborns was launched in Ukraine. This free examination identifies 21 hereditary diseases in infants at an early stage, allowing doctors to promptly initiate treatment.
Today, on the project's anniversary, representatives from the Office of the President, the Ministry of Health, the Medical Procurement of Ukraine, the parliamentary committee on public health, medical care, and health insurance, visited the medical genetics laboratory at the National Children's Hospital 'Ohmatdyt'.
The hospital representatives explained the process of this examination, summarized the initial results since its expanded implementation, and conducted a tour of the laboratory where this research is carried out.
Specifically, over the course of a year of expanded screening, more than 140,000 infant examinations were conducted. In 192 cases, doctors confirmed positive results and prescribed further examination and treatment.
"The implementation of expanded neonatal screening in Ukraine is the result of the long and painstaking work of a huge team of like-minded people, united by the common goal of preserving the most valuable - the health and lives of little Ukrainians", comments Mariia Karchevych, Deputy Minister of Health. "We have come a long way, but this is just the first stage. Our goal is to ensure a complete cycle of treatment for orphan diseases - from their detection and correction to the full social rehabilitation of the child. To achieve this, the ministry is currently working on the establishment of a network of centers for orphan diseases and gene therapy."
Until October 2022, the screening only allowed the detection of four rare diseases - hypothyroidism, phenylketonuria, congenital adrenal hyperplasia, and cystic fibrosis. Then, the list was expanded to include 21 hereditary diseases. This was made possible through the acquisition of special laboratory equipment ordered by the Ministry of Health, which the Medical Procurement of Ukraine purchased. In total, this equipment amounted to 330 units and cost over 300 million UAH.
"We have equipped the laboratory centers with state-of-the-art quality equipment and reagents for these tests. Thanks to this, our doctors can initiate infant treatment even at the preclinical stage if a disease is detected. This means preventing or alleviating the symptoms of the disease, giving the child a chance at a full life," emphasized Oleg Klots, the head of the logistics department at the Medical Procurement of Ukraine.
Currently, there are four such laboratories in Ukraine conducting neonatal screening: the Center for Rare (Orphan) Diseases in Kharkiv, the Interregional Center for Medical Genetics and Prenatal Diagnosis named after P.M. Veropotvelian in Kryvyi Rih, the Children's Hospital 'Ohmatdyt' in Kyiv, and the Lviv Perinatal Center.
Today, on the anniversary of this project's implementation in Ukraine, Open House Days will be held in screening centers in Lviv, Kryvyi Rih, and Kharkiv for regional screening coordinators and neonatologists.