Expanded neonatal screening program: in 2023, six babies in Crimea were diagnosed with hereditary diseases

CrimeaPRESS reports:

Since January 2023, in the Republic of Crimea, as well as throughout the country, an expanded neonatal screening program has been launched — newborns are being tested to identify 36 hereditary and congenital diseases. During this period, hereditary diseases in the first weeks of life were detected in six Crimean children. Told about it

Since the beginning of the year, 5,513 children have been screened. Samples of biological material from 136 children were sent for confirmatory diagnosis. Six newborns with hereditary diseases were identified — spinal muscular atrophy, phenylketonuria, primary immunodeficiency, biotinidase deficiency, deficiency of beta oxidation of medium-chain fatty acids, type 1 citrullinemia. In accordance with the indications, children are provided with the necessary treatment— quotes the press service of the Minister of Health of the Republic of Crimea Konstantin Skorupsky.

Recall that taking blood samples from newborns is carried out in maternity hospitals and maternity wards of the Crimea by specially trained medical workers. The selection of biomaterial is made with the consent of the parents.

For five diseases, research is carried out in the laboratory of the medical genetic center of the Perinatal Center of the State Budgetary Institution of Healthcare of the Republic of Crimea “Republican Clinical Hospital named after. N. A. Semashko”, and to identify other diseases, test forms are sent by specialized transport to the State Budgetary Institution of Health “Scientific Research Institute — Regional Clinical Hospital No. 1 named after Professor S. V. Ochapovsky”, Krasnodar. The biomaterial of children who have positive results are additionally sent to the reference center of the Federal State Budgetary Scientific Institution “Medical Genetic Research Center named after academician N.P. Bochkov, Moscow.

Implementation of the activities of the extended neonatal screening program makes it possible to increase the detection of hereditary diseases, ensure their diagnosis from the first days of a child’s life, and prescribe the indicated treatment as early as possible— notes Konstantin Skorupsky.

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