Screening of newborns for SMA in the Krasnodar region. First results

Abstract

Since January 2023, in the Russian Federation, as part of a newborn screening (NBS), all newborns have been examined for spinal muscular atrophy 5q (SMA). In the Krasnodar region, the center for the implementation of this program is the Scientific Research Institute – Ochapovsky Regional Clinical Hospital No. 1. The purpose of this study is to evaluate the frequency and molecular features of SMA identified in newborns of the Krasnodar region as part of the NBS for the period 2023-2024.The research material was samples of dried blood spots. The studies were carried out using the polymerase chain reaction method in real time. From January 1, 2023 to December 31, 2024, 103,513 children were examined in the Krasnodar region, among whom the diagnosis of SMA was confirmed in 14 children. The distribution of the number of copies of the SMN2: 2 copies – 3 children, 3 copies – 7 children, 4 copies – 4 children. Thus, the frequency of SMA in the Krasnodar region is 1:7394.