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[Results of neonatal screening for spinal muscular atrophy in Hungary in 2023]
Borbála Mikos1, Mária Judit Molnár2, Ildikó Szatmári3
11 Magyarországi Református Egyház Bethesda Gyermekkórháza Budapest, Bethesda u. 3., 1146 Magyarország.
Insights
Neonatal screening for spinal muscular atrophy (SMA) in Hungary demonstrated high reliability and public demand, leading to early diagnosis and treatment. Early intervention significantly improved health outcomes, supporting its inclusion in routine newborn screening.
Area of Science:
- Medical Genetics
- Pediatric Neurology
- Public Health
Background:
- Spinal muscular atrophy (SMA) is a progressive genetic disease often fatal in childhood.
- Neonatal screening is crucial for optimal health outcomes in SMA patients.
- Early diagnosis and therapy initiation are proven to be highly effective.
Purpose of the Study:
- To evaluate Hungary's neonatal screening research program for SMA.
- To assess the reliability, public demand, and cost-effectiveness of the screening method.
- To determine the health benefits of early SMA treatment and propose its inclusion in the national panel.
Main Methods:
- Screening for SMA using blood samples from routine newborn screenings with parental consent.
- Confirmatory molecular genetic testing for positive screening results.
- Genetic counseling, joint decision-making with parents for therapy choice and treatment center.
- Pre-treatment assessments, drug administration, and long-term patient follow-up.
Main Results:
- The screening program achieved 75.45% participation among newborns over 14 months.
- Nine children were diagnosed with SMA at the newborn stage, with 8 asymptomatic and 1 symptomatic.
- Early treatment (average age 36.2 days) resulted in age-appropriate development and no technology dependence in 8 patients.
- The screening test showed high reliability with no false-positive or false-negative results.
Conclusions:
- The Hungarian SMA neonatal screening program demonstrated significant success and reliability.
- Early diagnosis and treatment led to substantial health benefits for affected infants.
- Automatic inclusion of SMA screening in Hungary's general newborn screening program is recommended.
Abstract:
Introduction: Optimal health care for patients born with spinal muscular atrophy can only be achieved through neonatal screening. Neonatal screening for this incurable, progressive genetic disease that most often causes death in childhood has been introduced in many countries, and its usefulness has been proven with the outstanding results of early diagnosis and initiation of therapy. Objective: To evaluate the neonatal screening research program in Hungary, to examine the reliability, public demand, cost-effectiveness of the chosen screening method, and the health benefits of early treatment; in the case of success, proposing its automatic inclusion in the newborn screening panel. Method: Screening for spinal muscular atrophy from the blood sample taken for routine screenings with free and voluntary consent of the parents. In the case of a positive screening test, confirmatory molecular genetic test to check the screening test and to determine the copy number of the paralogous gene influencing the therapy of choice. The choice of the therapy and treatment center in the framework of genetic counseling, based on a joint decision made with the parents. After the examinations necessary to rule out contraindications of the chosen medicine and to assess the individual fairness of the financing, the drug treatment is carried out with the permission, and then the patients are followed up on a long-term basis. Results: During the 14 months of the program, the popularity of screening was outstanding, covering 75.45% of newborn infants. In 9 children, the disease was confirmed at newborn age and in the asymptomatic stage, and drug treatment took place at an average age of 36.2 days; 8 patients were asymptomatic, 1 was symptomatic. At an average age of 218.5 (93–346) days after the start of asymptomatic therapy, the children’s somato-mental development was appropriate for their age, technology dependence due to breathing or swallowing disorders did not occur, and they did not need aids. In 1 patient, partial respirator dependence occurred due to the symptoms that appeared before the start of therapy. The screening test proved to be reliable, there were no false-positive results during the research period, and we are not aware of any false-negative results. Discussion: The Hungarian screening program showed similar results to the international data, confirming the health benefits associated with spinal muscular atrophy. Conclusion: Based on the results, we consider it justified to automatically include newborn spinal muscular atrophy screening in the general newborn screening program in Hungary. Orv Hetil. 2024; 165(29): 1122–1129.
