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.

scholarly journals Implementing Statewide Newborn Screening for New Disorders: U.S. Program Experiences

2020 ◽  
Vol 6 (2) ◽  
pp. 35 ◽  
Author(s):  
Yvonne Kellar-Guenther ◽  
Sarah McKasson ◽  
Kshea Hale ◽  
Sikha Singh ◽  
Marci K. Sontag ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Screening Program ◽  
Muscular Atrophy ◽  
Survival Curve ◽  
Type I ◽  
Mucopolysaccharidosis Type I ◽  
Newborn Screening Program ◽  
Mps I ◽  
Insight Into

Data were collected from 39 newborn screening (NBS) programs to provide insight into the time and factors required for implementing statewide screening for Pompe, Mucopolysaccharidosis type I (MPS I), adrenoleukodystrophy (ALD), and Spinal Muscular Atrophy (SMA). Newborn screening program readiness to screen statewide for a condition was assessed using four phases: (1) approval to screen; (2) laboratory, follow-up, and information technology capabilities; (3) education; and (4) implementation of statewide newborn screening. Seventeen states (43.6%) reached statewide implementation for at least one new disorder. Those states reported that it took 28 months to implement statewide screening for Pompe and MPS I, 30.5 months for ALD, and 20 months for SMA. Using survival curve analysis to account for states still in progress, the estimated median time to statewide screening increased to 75 months for Pompe and 66 months for MPS I. When looking at how long each readiness component took to complete, laboratory readiness was one of the lengthier processes, taking about 39 months. Collaboration with other NBS programs and hiring were the most frequently mentioned facilitators to implementing newborn screening. Staffing or inability to hire both laboratory and follow-up staff was the most frequently mentioned barrier.

Experiences With Sickle Hemoglobin Testing in the Texas Newborn Screening Program

PEDIATRICS ◽  
1989 ◽  
Vol 83 (5) ◽  
pp. 864-867
Author(s):  
Bradford L. Therrell ◽  
Jennifer L. Simmank ◽  
Mae Wilborn
Keyword(s):  
Newborn Screening ◽  
Isoelectric Focusing ◽  
Screening Program ◽  
Mortality Data ◽  
Newborn Screening Program ◽  
Treatment Protocols ◽  
Sickle Hemoglobin ◽  
Electrophoretic Patterns ◽  
Texas Department ◽  
Supply Costs

Since Nov 1, 1983, we have tested more than 1 million infants for sickling hemoglobinopathies. The laboratory procedures used for analysis of the filter paper blood spots include a combination of cellulose acetate and citrate agar electrophoresis. Isoelectric focusing offers an alternative screening procedure. Satisfactory interpretations of electrophoretic patterns are generally acceptable on specimens analyzed within five days of collection. Specimen age does not seem to be as critical a factor with isoelectric focusing. Consumable supply costs are slightly more with isoelectric focusing protocol (approximately $0.50 v $0.25), however, and the technical complexity and time involved are also somewhat higher. We have found the incidences to be as expected. Annual births in Texas number approximately 42,000 blacks, more than 90,000 Hispanics, and more than 175,000 whites. The newborn screening program is detecting approximately 100 cases of sickle cell anemia, 40 cases of SC disease, and 4,200 sickle hemoglobin carriers annually. Although the morbidity and mortality data demonstrating the effectiveness of this program will take some time to accumulate, support for its continuation from the physician community and the general public appears widespread. Follow-up of disease conditions is an integral part of the protocol, and the involvement and recommendations of an advisory committee, including qualified pediatric hematologists, have proven extremely beneficial. Both educational literature and treatment protocols have been addressed by the department and its advisers. Although the program still lacks a strong genetic counseling effort, and there are considerable communication and transportation problems associated with the state's geography, the Texas Department of Health remains dedicated to improving the public health of infants throughout the state with its quality newborn screening program.

scholarly journals Novel Modification of a Confirmatory SMA Sequencing Assay that Can Be Used to Determine SMN2 Copy Number

2021 ◽  
Vol 7 (3) ◽  
pp. 47
Author(s):  
Binod Kumar ◽  
Samantha Barton ◽  
Jolanta Kordowska ◽  
Roger B. Eaton ◽  
Anne M. Counihan ◽  
...  
Keyword(s):  
Newborn Screening ◽  
New England ◽  
Copy Number ◽  
Screening Program ◽  
Muscular Atrophy ◽  
Base Substitution ◽  
Copy Numbers ◽  
Copy Number Assay ◽  
Second Tier ◽  
A Minor

Promising treatments for spinal muscular atrophy (SMA), the leading genetic cause of infant mortality, prompted calls for inclusion in newborn screening (NBS). In January 2018, the New England Newborn Screening Program (NENSP) began statewide screening for SMA using a tiered algorithm looking for the absence of SMN1 Exon 7. When results from the first and second tier needed reconciliation, we developed and validated a third tier DNA sequencing assay to ensure the presence or absence of SMN1 Exon 7. All nine infants referred to specialty centers through NBS showed single base substitution of c.840C>T, and were confirmed to have SMA. Further, a minor sequencing protocol modification allowed the estimation of SMN2 copy number in SMA affected patients; we developed and validated a copy-number assay yielding 100% match with seven previously characterized specimens of SMA patients. All nine SMA-affected infants found through NBS were also assayed for SMN2 copy number. Results were comparable but not 100% matched with those that were reported by independent diagnostic laboratories. In conclusion, a sequencing protocol confirms NBS findings from real-time qPCR, and its modified application allows NBS programs that have sequencing capabilities to provide SMN2 copy numbers without the need for additional instrumentation.

scholarly journals The Birth Prevalence of Spinal Muscular Atrophy: A Population Specific Approach in Estonia

2021 ◽  
Vol 12 ◽  
Author(s):  
Siiri Sarv ◽  
Tiina Kahre ◽  
Eve Vaidla ◽  
Sander Pajusalu ◽  
Kai Muru ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Newborn Screening ◽  
Screening Program ◽  
Muscular Atrophy ◽  
Laboratory Data ◽  
Epidemiological Data ◽  
University Hospital ◽  
Published Data ◽  
Clinical Genetics ◽  
Birth Prevalence

Background: Rare diseases are an important population health issue and many promising therapies have been developed in recent years. In light of novel genetic treatments expected to significantly improve spinal muscular atrophy (SMA) patients’ quality of life and the urgent need for SMA newborn screening (NBS), new epidemiological data were needed to implement SMA NBS in Estonia.Objective: We aimed to describe the birth prevalence of SMA in the years 1996–2020 and to compare the results with previously published data.Methods: We retrospectively analyzed clinical and laboratory data of SMA patients referred to the Department of Clinical Genetics of Tartu University Hospital and its branch in Tallinn.Results: Fifty-seven patients were molecularly diagnosed with SMA. SMA birth prevalence was 1 per 8,286 (95% CI 1 per 6,130–11,494) in Estonia. Patients were classified as SMA type 0 (1.8%), SMA I (43.9%), SMA II (22.8%), SMA III (29.8%), and SMA IV (1.8%). Two patients were compound heterozygotes with an SMN1 deletion in trans with a novel single nucleotide variant NM_000344.3:c.410dup, p.(Asn137Lysfs*11). SMN2 copy number was assessed in 51 patients.Conclusion: In Estonia, the birth prevalence of SMA is similar to the median birth prevalence in Europe. This study gathered valuable information on the current epidemiology of SMA, which can guide the implementation of spinal muscular atrophy to the newborn screening program in Estonia.

scholarly journals Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
François Boemer ◽  
Jean-Hubert Caberg ◽  
Pablo Beckers ◽  
Vinciane Dideberg ◽  
Samantha di Fiore ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Newborn Screening ◽  
Screening Program ◽  
Muscular Atrophy ◽  
The United States ◽  
Lessons Learned ◽  
European Medicines Agency ◽  
Pilot Program ◽  
Screening Programs ◽  
New Therapies

AbstractThree new therapies for spinal muscular atrophy (SMA) have been approved by the United States Food and Drug Administration and the European Medicines Agency since 2016. Although these new therapies improve the quality of life of patients who are symptomatic at first treatment, administration before the onset of symptoms is significantly more effective. As a consequence, newborn screening programs have been initiated in several countries. In 2018, we launched a 3-year pilot program to screen newborns for SMA in the Belgian region of Liège. This program was rapidly expanding to all of Southern Belgium, a region of approximately 55,000 births annually. During the pilot program, 136,339 neonates were tested for deletion of exon 7 of SMN1, the most common cause of SMA. Nine SMA cases with homozygous deletion were identified through this screen. Another patient was identified after presenting with symptoms and was shown to be heterozygous for the SMN1 exon 7 deletion and a point mutation on the opposite allele. These ten patients were treated. The pilot program has now successfully transitioned into the official neonatal screening program in Southern Belgium. The lessons learned during implementation of this pilot program are reported.

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