The impact of the national population carrier screening program on reducing birth rates of patients with spinal muscular atrophy

2017 ◽  
Vol 27 ◽  
pp. S137
Author(s):  
S. Aharoni ◽  
Y. Nevo ◽  
N. Orenstein ◽  
L. Basel-Vanagaite ◽  
H. Mussaffi ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Screening Program ◽  
Muscular Atrophy ◽  
Carrier Screening ◽  
Birth Rates ◽  
National Population ◽  
The Impact

Impact of a national population-based carrier-screening program on spinal muscular atrophy births

2020 ◽  
Vol 30 (12) ◽  
pp. 970-974
Author(s):  
Sharon Aharoni ◽  
Yoram Nevo ◽  
Naama Orenstein ◽  
Lina Basel-Salmon ◽  
Shay Ben-Shachar ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Screening Program ◽  
Muscular Atrophy ◽  
Population Based ◽  
Carrier Screening ◽  
National Population

scholarly journals The impact of a national population carrier screening program on cystic fibrosis birth rate and age at diagnosis: Implications for newborn screening

2016 ◽  
Vol 15 (4) ◽  
pp. 460-466 ◽  
Author(s):  
Patrick Stafler ◽  
Meir Mei-Zahav ◽  
Michael Wilschanski ◽  
Huda Mussaffi ◽  
Ori Efrati ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Newborn Screening ◽  
Birth Rate ◽  
Screening Program ◽  
Carrier Screening ◽  
Age At Diagnosis ◽  
National Population ◽  
The Impact

scholarly journals Massachusetts’ Findings from Statewide Newborn Screening for Spinal Muscular Atrophy

2021 ◽  
Vol 7 (2) ◽  
pp. 26
Author(s):  
Jaime E. Hale ◽  
Basil T. Darras ◽  
Kathryn J. Swoboda ◽  
Elicia Estrella ◽  
Jin Yun Helen Chen ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Newborn Screening ◽  
New England ◽  
Screening Program ◽  
Muscular Atrophy ◽  
Treatment Options ◽  
Newborn Screening Program ◽  
Treatment Protocols ◽  
Screening Algorithm ◽  
New Treatment

Massachusetts began newborn screening (NBS) for Spinal Muscular Atrophy (SMA) following the availability of new treatment options. The New England Newborn Screening Program developed, validated, and implemented a screening algorithm for the detection of SMA-affected infants who show absent SMN1 Exon 7 by Real-Time™ quantitative PCR (qPCR). We screened 179,467 neonates and identified 9 SMA-affected infants, all of whom were referred to a specialist by day of life 6 (average and median 4 days of life). Another ten SMN1 hybrids were observed but never referred. The nine referred infants who were confirmed to have SMA were entered into treatment protocols. Early data show that some SMA-affected children have remained asymptomatic and are meeting developmental milestones and some have mild to moderate delays. The Massachusetts experience demonstrates that SMA NBS is feasible, can be implemented on a population basis, and helps engage infants for early treatment to maximize benefit.

767: Prenatal carrier screening for spinal muscular atrophy

2016 ◽  
Vol 214 (1) ◽  
pp. S401-S402
Author(s):  
S. Lindsay Wood ◽  
Fallon Brewer ◽  
Rebecca Ellison ◽  
Joseph Biggio ◽  
Rodney K. Edwards
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Carrier Screening

scholarly journals Mutation analysis of 419 family and prenatal diagnosis of 339 cases of spinal muscular atrophy in China

2020 ◽  
Author(s):  
Yingjie Sun ◽  
Xiangdong Kong ◽  
Zhenhua Zhao ◽  
Xuechao Zhao
Keyword(s):  
Prenatal Diagnosis ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Point Mutations ◽  
Homozygous Deletion ◽  
Common Mutation ◽  
Type I ◽  
Copy Numbers ◽  
Smn2 Gene ◽  
The Impact

Abstract Background Spinal muscular atrophy (SMA) is a common and lethal autosomal recessive neurodegenerative disease caused by mutations in the survival motor neuron 1 (SMN1) gene. At present, gene therapy medicine for SMA, i.e., Spinraza (Nusinersen), has been approved by the FDA, bringing hope to SMA patients and families. Accurate diagnosis is essential for treatment. Our goal was to detect genetic mutations in SMA patients in China and to show the results of the prenatal diagnosis of SMA.Methods In this study, we examined 419 patients in our hospital from January 2010 to September 2019. Multiplex ligation-dependent probe amplification analysis was used to determine the copy numbers of SMN1 and SMN2. Long-range PCR combined with nested PCR was used to detect point mutations in SMN1. In addition to the above detection methods, we also used QF-PCR in prenatal diagnosis to reduce the impact of maternal contamination. We conducted a total of 339 prenatal diagnoses from January 2010 to September 2019.Results Homozygous deletion of SMN1 exon 7 was detected in 96.40% (404/419) of patients. Homozygous deletion of SMN1 exon 7 alone was detected in 15 patients (3.60%). In total, 10 point mutations were detected in the 15 pedigrees. Most patients with SMA Type I have 1~2 copies of the SMN2 gene. Patients with SMA Type II have 2 or 3 copies of the SMN2 gene. The results of prenatal diagnoses showed that 118 fetuses were normal, 149 fetuses were carriers of heterozygous variants, and the remaining 72 fetuses harbored compound heterozygous variants or homozygous variants. Conclusions Our study found that the most common mutation in SMA was homozygous deletion of SMN1 exon 7 in our study. We suggest that detecting only the deletion of exon 7 of SMN1 can meet most of the screening needs. We also believe that SMN2 copy numbers can help infer the disease classification and provide some reference for future treatment options.

Enhanced Carrier Screening for Spinal Muscular Atrophy: Detection of Silent (SMN1: 2 + 0) Carriers Utilizing a Novel TaqMan Genotyping Method

2019 ◽  
Vol 51 (4) ◽  
pp. 408-415
Author(s):  
Abul Kalam Azad ◽  
Chih-Kang Huang ◽  
Hong Jin ◽  
Hongwei Zou ◽  
Lindsay Yanakakis ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Cost Effective ◽  
Carrier Screening ◽  
Laboratory Method ◽  
Survival Motor Neuron ◽  
Reference Laboratory ◽  
Allelic Discrimination ◽  
Detection Rates ◽  
Genotyping Assay

Abstract Background Individuals whose copies of the survival motor neuron 1 (SMN1) gene exist on the same chromosome are considered silent carriers for spinal muscular atrophy (SMA). Conventional screening for SMA only determines SMN1 copy number without any information regarding how those copies are arranged. A single nucleotide variant (SNV) rs143838139 is highly linked with the silent carrier genotype, so testing for this SNV can more accurately assess risk to a patient of having an affected child. Methods Using a custom-designed SNV-specific Taqman genotyping assay, we determined and validated a model for silent-carrier detection in the laboratory. Results An initial cohort of 21 pilot specimens demonstrated results that were 100% concordant with a reference laboratory method; this cohort was utilized to define the reportable range. An additional 177 specimens were utilized for a broader evaluation of clinical validity and reproducibility. Allelic-discrimination analysis demonstrated tight clustering of genotype groupings and excellent reproducibility, with a coefficient of variation for all genotypes ranging from 1% to 4%. Conclusion The custom-developed Taqman SNV genotyping assay we tested provides a rapid, accurate, and cost-effective method for routine SMA silent-carrier screening and considerably improves detection rates of residual risk for SMA carriers.

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