Genomic screening for Duchenne muscular dystrophy: a retrospective study
from 10,481 NICU patients based on next generation sequencing data
Abstract
Newborn creatine kinase screening can identify patients at risk for
Duchenne muscular dystrophy. However, it is unclear whether the
next-generation sequencing-based screening can identify patients early
and guide care. Herein, this study investigates clinical utility of
next-generation sequencing-based DMD screening. A total of 19 (0.18%,
19/10481) newborns were identified with pathogenic variants of DMD gene,
including 4 (21.1%, 4/19) duplications,13 (68.4%,13/19) deletions, and
2 (10.5%, 2/19) nonsense mutations. Six of them were symptomatic after
regular follow up. Therapeutic strategies for these patients were
modified. Two neonates died, and the remaining 11 newborns were
asymptomatic at August 1, 2020. These 13 families were informed the
updated genetic report and suggested for further genetic consulting.
Genomic screening for DMD would identify patients who might not come to
clinical attention prior to disease manifestation. Early targeted
intervention of DMD have the positively impact the clinical decision and
the potential to improve outcomes.