19. 1. 2022

Pilot screening reveals new diseases

Since January, the General University Hospital in Prague (VFN) has been the only institution in the Czech Republic to offer newborn screening for spinal muscular atrophy (SMA) and severe combined immunodeficiency (SCID). The University Hospital Brno provides the same services for Moravia. Just a drop of blood on a newborn card and within a few hours the staff of diagnostic laboratories have the results. Up to 90% of mothers are interested in a pilot screening program that gives at-risk newborns a chance at a quality life without consequences. In addition, examinations are paid for by health insurance companies.

About 1500 samples from maternity hospitals come to the VFN every week "We were surprised by the huge interest in the examination, because the pilot phase is completely voluntary, covered by public health insurance," states Ing. Karolína Pešková, head of the Diagnostic Laboratories of Hereditary Metabolic Disorders of the Department of Pediatrics and Hereditary Metabolic Disorders of the General Hospital, where blood samples are processed, and states: "All Czech maternity hospitals can take part, where standard routine neonatal screening for eighteen rare diseases takes place, and mothers are offered the opportunity to be tested for two other diseases. And the interest exceeded all our expectations. Up to 90% of all mothers are interested in examinations for spinal muscular atrophy and severe forms of immune system disorders. "

For more information, see press release.


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