Five-year experience of a combined newborn screening for spinal muscular atrophy and severe combined immunodeficiency in Liguria, Italy.

Combined newborn screening: a multiplex PCR on dried blood spots detecting SMN1 exon 7 deletion and quantifying TREC/KREC.

Five-year evaluation of a pilot programme combining newborn screening for spinal muscular atrophy (SMA) and severe combined immunodeficiency (SCID) in 32,289 newborns in Liguria. A single multiplex PCR on dried blood spots detected SMN1 exon 7 deletion and quantified TREC and KREC, with near-complete coverage and a low recall rate. Ten newborns were diagnosed: five with SMA (four treated presymptomatically with favourable outcomes, one death in SMA type 0) and five with immunodeficiencies, including two ADA-related SCID. No false negatives were observed during follow-up.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

The clinical value is major and directly communicable to the public: treating SMA before symptoms appear changes the prognosis, and multiplexing SMA+SCID shares a single blood spot. Case numbers remain small (as expected for rare diseases) but the absence of false negatives across 32,000 newborns and the routine feasibility are convincing. Another argument for expanding newborn screening panels.

Analysis by Dr Thibaut Benquey