Russia will expand neonatal screening to cover six additional…

Russia will expand neonatal screening to cover six additional diseases.

Consensus

Russia plans to expand its neonatal screening program to include six new inherited diseases.
The expansion is scheduled to begin in 2027.
The tests will be conducted on newborns using blood samples taken from the heel.
The screening will be performed in maternity hospitals and is free of charge.
The diseases included are all rare and severe, with early detection critical to preventing severe disability.
Treatment for these conditions is provided by the 'Krug Dobra' foundation.
The expansion follows the inclusion of two additional diseases in April 2026: X-linked adrenoleukodystrophy and deficiency of aromatic L-amino acid decarboxylase.

The expanded screening will include tests for six inherited metabolic diseases, all linked to genetic defects disrupting metabolism, with symptoms including muscle weakness, skeletal issues, and organ damage due to substance accumulation. — vm
The six new diseases include Duchenne muscular dystrophy and five other complex inherited diseases: Pompe disease, mucopolysaccharidosis type I, Gaucher disease, Niemann-Pick type A/B, and Krabbe disease. — vedomosti
The six diseases include Duchenne muscular dystrophy, Pompe disease, mucopolysaccharidosis, Gaucher disease, Niemann-Pick disease type A/B, and Krabbe disease. — tg_rian_ru
The six new diseases include Duchenne muscular dystrophy, and five other inherited complex diseases, with treatment funded by the 'Krug Dobra' Foundation. — kommersant
The Ministry of Health confirmed that the expanded screening will be included in the state guarantee program. — vedomosti
The diseases are very rare and pose a serious threat to children; if undiagnosed, they can lead to deep disability. — vm