Trusted Resources: Education
Scientific literature and patient education texts
Screening of Neonatal UK Dried Blood Spots Using a Duplex SMN1 Screening Assay
source: International journal of neonatal screening
year: 2021
authors: Adams SP,Gravett E,Kent N,Kricke S,Ifederu A,Scoto M,Samsuddin S,Muntoni F
summary/abstract:Spinal muscular atrophy (SMA) is an autosomal inherited neuromuscular genetic disease caused, in 95% of cases, by homozygous deletions involving the gene exon 7. It remains the leading cause of death in children under 2 years of age. New treatments have been developed and adopted for use in many countries, including the UK. Success of these treatments depends on early diagnosis and intervention in newborn babies, and many countries have implemented a newborn screening (NBS) or pilot NBS program to detect exon 7 deletions on dried blood spots. In the UK, there is no current NBS program for SMA, and no pilot studies have commenced. For consideration of adoption of NBS for a new condition, numerous criteria must be satisfied, including critical assessment of a working methodology. This study uses a commercially available real-time PCR assay to simultaneously detect two different DNA segments ( exon 7 and control gene ) using DNA extracted from a dried blood spot. This study was carried out in a routine clinical laboratory to determine the specificity, sensitivity, and feasibility of SMA screening in a UK NBS lab setting. Just under 5000 normal DBSs were used alongside 43 known SMA positive DBSs. Study results demonstrate that NBS for SMA using real-time PCR is feasible within the current UK NBS Laboratory infrastructure using the proposed algorithm.
organization: SIHMDS-Haematology, Camelia Botnar Labs, Great Ormond Street Hospital for Children, London WC1N 3JH, UK.DOI: 10.3390/ijns7040069
read more
Related Content
-
A Novel CARM1-HuR Axis Involved in Muscle Differentiation and Plasticity Misregulated in Spinal Muscular AtrophySpinal muscular atrophy (SMA) is charact...
-
Sofia’s Story – Johns Hopkin’sOn the morning of Friday, Aug. 23, 2019,...
-
Baby First at UNC to Receive Gene Therapy for SMA, Thanks to Early Check Newborn ScreeningIt was a pregnancy that went relatively ...
-
Identification of Specific Gene Methylation Patterns During Motor Neuron Differentiation From Spinal Muscular Atroph...Spinal muscular atrophy is a progressive...
-
The SMA France National Registry: Already Encouraging ResultsSpinal muscular atrophy is a debilitatin...
-
Implications of Circulating Neurofilaments for Spinal Muscular Atrophy Treatment Early In Life: A Case SeriesThis longitudinal cohort study aimed to ...
-
Developing Motor Neurons in SMA Show Altered Protein ProductionMotor neurons derived from people with s...