Research Centre for Medical Genetics
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The First Patient With Spinal Muscular Atrophy Was Identified During Advanced Neonatal Screening

The girl was born on January 1, 2023 in Kurgan. After 24 hours, blood was collected. According to the results of the research conducted at the CDC «Maternal and Child Healthcare» in Yekaterinburg, the newborn was included in the risk group for spinal muscular atrophy (SMA).

In 2022, Yekaterinburg became one of the eight regions-participants of the pilot project of RCMG for screening on SMA and primary immunodeficiency. Also Sverdlovskaya Oblast has rich experience of its own projects of advanced neonatal screening for hereditary metabolic diseases, as well as in 2021 - screening for primary immunodeficiencies.

“Since January 1, our centre has become one of the ten inter-regional centres of advanced neonatal screening - this is a big responsibility. Sverdlovskaya Oblast has already shown positive results in the screening programmes of newborns, both in the mode of selective screening and in the framework of pilot projects. Today we are ready to develop in this direction in the interests of residents not only of Sverdlovskaya Oblast, but also of the entire Ural Federal District”, - said Elena Nikolaeva, the chief external expert of the Ministry of Healthcare of Russia on medical genetics in the Ural Federal District, the chief physician of the CDC «Maternal and Child Healthcare».

To confirm the diagnosis, a sample of the newborn biomaterial was sent to the reference centre of advanced neonatal screening - the Research Centre for Medical Genetics (RCMG). RCMG specialists confirmed the diagnosis of spinal muscular atrophy.

“Thanks to the start of the new federal programme, the diagnosis of the worst life-threatening disease was established on the 11th day of the child’s life. The newborn has no clinical manifestations and the treatment of the disease will be as effective as possible. The programme for the early detection of hereditary diseases is highly relevant. Each doctor may encounter an orphan patient, despite the fact that at first glance, these diseases occur rarely separately, but cumulatively people may suffer one in 100. At present, we actively identify patients with hereditary diseases for which treatment has already been developed. It must be said that the incidence of these diseases is quite high. Thus, according to RCMG, spinal muscular atrophy occurs in one case for 6-7 thousand newborns. Accordingly, several hundred children are born in Russia every year and are diagnosed with this condition. The advanced neonatal screening includes diseases for which precise diagnostic methods are developed and there is a treatment”, - said Sergey Voronin, chief physician of RCMG.

Advanced neonatal screening began on January 1, 2023. In Russia, 10 centres for advanced neonatal screening have been established in Saint Petersburg, Irkutsk, Tomsk, Krasnodar, Rostov-on-Don, Ufa, Yekaterinburg and three centres in Moscow. The Ministry performs the functions of a reference centre: there is a confirmatory diagnostics, as well as specialists provide methodological guidance for the work of regional centres.