Sibiu Free Newborn Screening for Spinal Muscular Atrophy Reaches 2,200 Tests

More than 2,200 babies born in Sibiu and Mediaș have been screened free of charge for spinal muscular atrophy (SMA) this year, thanks to a pioneering project run by the molecular biology laboratory at the Sibiu Clinical Paediatric Hospital.

The initiative began in January 2026 and repurposed Real-Time PCR testing equipment originally purchased during the COVID-19 pandemic. The paediatric neurology department, led by Dr Gabriela Vișa, adapted the laboratory to carry out genetic screening for SMA, a rare and life-threatening condition that affects motor neurons.

All laboratory work — from processing dried blood spot cards to DNA extraction and genetic amplification — has been performed pro bono by hospital staff. Testing kits were funded by community sources: the first 2,000 tests were donated by the Familiile SMA București Association, while a third kit was purchased with help from the Propediatria Sibiu Association.

Of the 2,207 samples analysed so far, six initially raised suspicion. However, confirmation genetic testing — covered by a private voucher programme supported by Novartis — found that all six babies were healthy carriers of the genetic mutation, not affected by the disease.

Early detection is crucial for SMA. New gene therapies such as Zolgensma can halt the disease's progression if given in the first months of life, ideally before symptoms appear. Until now, families in the region often had to travel to Bucharest for diagnosis and treatment.

“We wanted the diagnosis of spinal muscular atrophy to be accessible to local patients as quickly as possible,” said hospital manager Dr Camelia Grigore. “A child detected in time can be evaluated and, if they meet the medical criteria, treated in Sibiu, without the family having to travel to Bucharest.”

The project earned the hospital the award for “Clinical Excellence, Prevention, Screening and Early Diagnosis” at the 2026 Romanian Healthcare Awards. Sibiu is one of only two centres in the country running this pilot programme, bringing advanced newborn screening closer to families in Transylvania.