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Evaluating Cell-Free DNA Testing for Autosomal Recessive Conditions in General-Risk Pregnancies: A Multicenter Prospective Study

This prospective multicenter study demonstrates that cfDNA fetal risk screening accurately identifies autosomal recessive conditions in general-risk pregnancies with high specificity and improved positive predictive value compared to tradit

Aug 17, 2026
Clinical Updates

Treatment Evolution in 5q-Spinal Muscular Atrophy: Real-World Evidence and Clinical Insights from the SMArtCARE Registry

This review analyzes the shifting landscape of SMA therapy using data from 2,140 patients, highlighting the transition between nusinersen, risdiplam, and onasemnogene abeparvovec and the factors driving treatment switches.

Mar 8, 2026
Neurology

Apitegromab (SAPPHIRE): phase 3 trial shows modest motor gains in non‑ambulatory type 2/3 spinal muscular atrophy on SMN therapies

The SAPPHIRE phase 3 trial found that adding apitegromab to nusinersen or risdiplam produced a small but statistically significant improvement in motor function in children aged 2–12, with a safety profile similar to placebo.

Aug 22, 2025

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