Neonatal Genetic Screening Results for Spinal Muscular Atrophy in Romania: Insights from a 3-Years Pilot Program

Area of Science:

• Genetics and Neurology
• Public Health Initiatives
• Neonatal Screening Programs

Background:

• Spinal muscular atrophy (SMA) is a severe genetic neuromuscular disorder.
• Early diagnosis via neonatal screening is crucial for effective therapeutic intervention and improved outcomes.
• A pilot neonatal screening program for SMA was initiated in Romania in August 2022.

Purpose of the Study:

• To present preliminary results from Romania's ongoing SMA neonatal screening pilot program.
• To evaluate the program's effectiveness in early detection and referral for treatment.
• To assess the feasibility, suitability, and acceptance of SMA neonatal screening in Romania.

Main Methods:

• Dried blood spot samples from newborns were analyzed for SMN1 gene deletions using real-time PCR.
• Positive results underwent confirmation via genetic testing.
• Affected infants and families were referred for specialized care and early therapeutic intervention.

Main Results:

• Approximately 60,000 newborns screened since program inception.
• 12 newborns tested positive for SMN1 deletions, yielding an incidence rate of 1 in 5125 live births.
• All confirmed cases received prompt referral for specialized care and early access to disease-modifying therapies.

Conclusions:

• The Romanian pilot neonatal screening program for SMA has demonstrated success in early identification of affected infants.
• The program's expansion from 4 to 28 maternity hospitals indicates increasing feasibility and acceptance.
• The pilot program provides a strong foundation for a future national SMA screening program in Romania, enhancing early diagnosis and patient outcomes.