Substantial differences in newborn screening (NBS) practices for spinal muscular atrophy (SMA) across the U.S. could impact referral patterns or the timing of therapeutic interventions, a study shows. While healthcare providers evaluated newborns with positive results within the first week of life, many didn’t initiate therapy until after they…

DNA contamination from sample processing remains a major problem in spinal muscular atrophy (SMA) newborn screening, a study reported. Researchers proposed analytic cut-off values to clearly separate samples testing positive for SMA from negative samples. Data also showed that adding a freezing step before DNA extraction led to significantly…

The start of a newborn screening (NBS) program for spinal muscular atrophy (SMA), allowing early treatment for infants found to have the disease, added to healthy years of life for patients in Belgium, according to a real-world analysis of its cost-effectiveness. “Spinal muscular atrophy newborn screening coupled with early…

Revvity has launched its EONIS Q system for faster and simplified newborn molecular screening of spinal muscular atrophy (SMA) and severe combined immunodeficiency (SCID), the company announced. According to Revvity, this easy-to-use platform reduces the complexity and costs for laboratories, so they can expand newborn screening capabilities.

Researchers in Turkey have developed a new method for screening newborn blood samples for mutations associated with spinal muscular atrophy (SMA). Compared with standard techniques, the new method showed 100% accuracy for detecting SMA-positive and negative samples, they said. The scientists believe their approach, which is simpler and involves…

Newborn screening might not be able to detect certain rare genetic mutations that cause spinal muscular atrophy (SMA), according to a case report that recommends doctors be aware of potential false-negatives in screening and know how to spot the typical symptoms of the disease. Researchers describe the case of…

Even though Ukraine has been at war for more than a year, a newborn screening program for spinal muscular atrophy (SMA) was launched late last year — and so far the program has successfully tested tens of thousands of babies, providing early diagnoses for nearly a dozen infants. A…

The adoption of a newborn screening (NBS) program for spinal muscular atrophy (SMA) in England would reduce healthcare costs and boost the number of healthy years a patient can live, according to a recent cost-effectiveness analysis. Researchers believe such a program could capture most cases of SMA in the…

GenQA is asking people with spinal muscular atrophy (SMA) and their families in the U.K. to donate a small blood sample that will help the company determine if newborn screening tests are accurate and reliable. The U.K.-based company, operated by the Oxford University NHS Foundation Trust, provides external…

A pilot study describes how researchers successfully implemented a newborn genetic screening in Osaka, Japan, to identify infants with spinal muscular atrophy (SMA) as early as possible. No false-positive results occurred in about 23,000 samples screened in the study; after implementation, newborn screening detected one presymptomatic SMA infant who…