The Ministry of Health spoke about the results of expanded neonatal screening

In Russia, since 2023, all newborns – and this is about one and a half million children a year – are already being examined for 36 hereditary diseases, and not for five, as before. This has become possible due to the emergence of new diagnostic methods. The rector of St. Petersburg State Pediatric Medical University, chief neonatologist of the Ministry of Health, Doctor of Medical Sciences, Professor Dmitry Ivanov spoke about the first results of expanded neonatal screening to Parliamentary Newspaper.

Expanded neonatal screening is a historic decision, Ivanov stressed. According to him, thanks to this innovation, doctors can detect 36 genetic diseases in the early stages, and not five, as before. It took a year and a half of intensive work of all structures, both medical and non-medical, to organize such screening. As a result, from January 1, absolutely all newborns in our country, even in the most remote settlements, are being examined for these diseases.

“Over the past two months, we have examined more than 170,000 newborns,” said the neonatologist. “According to data recently cited by Minister of Health Mikhail Murashko, during this period, 12 children were diagnosed with primary immunodeficiencies, 20 with hereditary metabolic disorders, and 16 with spinal muscular atrophy. But this data is, of course, constantly changing. I think those numbers are higher now.”

The specialist also told how the extended screening procedure is carried out. To do this, a few drops of blood are taken from the heel of a newborn, applied to paper, and then sent to centers where genetic analysis is carried out. The study lasts about two to three days. If a suspicious test result is obtained, an in-depth examination is carried out in reference centers. It’s been taking about a week now. If, according to the results, a pathology is revealed in a child, the medical facility where the newborn is observed is notified about this. Parents are told what to do next.

In Russia, a very well-organized system of assistance to such children has now been established, Ivanov continued. The cost of drugs for children with congenital hereditary diseases can reach hundreds of millions of rubles. They are purchased for young patients by the Presidential Fund “Circle of Kindness”.

“I am a member of the fund’s expert council, which meets every week,” the specialist specified. “In two years of work, we have not made a single negative decision on the drug provision of our wards.”

Medicines are delivered to the regions literally in a matter of days, and children who need them receive treatment, the neonatologist concluded.

Read more about it on the Parliamentary Newspaper website.

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