False alarm in newborn screening: How zebrafish can prevent unnecessary spinal muscular atrophy therapies
Medical Xpress
February 13, 2026
AI-Generated Deep Dive Summary
A recent study highlights how zebrafish can help address false alarms in newborn screening for spinal muscular atrophy (SMA), potentially preventing unnecessary treatments. Newborn screenings for SMA are critical due to the urgent need for early intervention, but researchers have found that some positive results may be genetic false positives. These cases occur when genetic variants cause a misleading positive result, leading to stress and potential harm from treatments that aren’t needed. To tackle this issue, scientists in Germany and Australia developed a functional test using zebrafish models, which can quickly and reliably determine whether the screening result is accurate.
Spinal muscular atrophy is a severe neuromuscular disorder that requires prompt treatment for better outcomes. However, genetic testing alone sometimes produces uncertain results due to rare or unclassified variants. Current methods like genetic sequencing struggle to distinguish between disease-causing mutations and harmless ones, leaving families in limbo. The zebrafish model offers a breakthrough solution by providing functional insights into the genetic findings. Zebrafish share similarities with humans in SMA-related genes, making them ideal for testing how specific mutations affect muscle function and movement.
This innovative approach allows researchers to quickly validate whether a genetic variant truly causes SMA or is just
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Originally published on Medical Xpress on 2/13/2026