PCR-Based Screening of Spinal Muscular Atrophy for Newborn Infants in Hyogo Prefecture, Japan

Noguchi, Yoriko; Bo, Ryosuke; Nishio, Hisahide; Matsumoto, Hidenari; Matsui, Keiji; Yano, Yoshihiko; Sugawara, Masami; Ueda, Go; Wijaya, Yogik Onky Silvana; Niba, Emma Tabe Eko; Shinohara, Masakazu; Bouike, Yoshihiro; Takeuchi, Atsuko; Okamoto, Katsushi; Saitô, Toshio; Shimomura, Hideki; Lee, Tomoko; Takeshima, Yasuhiro; Iijima, Kazumoto; Nozu, Kandai; Awano, Hiroyuki

doi:10.3390/genes13112110

Cited by 16 publications

(27 citation statements)

References 47 publications

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“…Neonatal screening for SMA has already been reported in many other countries, such as Australia, Germany, Belgium, Canada, United States, Italy, Japan, and Taiwan ( Chien et al, 2017 ; Kariyawasam et al, 2020 ; Boemer et al, 2021 ; Vill et al, 2021 ; Abiusi et al, 2022 ; Kernohan et al, 2022 ; Lee et al, 2022 ; Matteson et al, 2022 ; Noguchi et al, 2022 ). Among the methodologies employed in the studies, real-time qPCR was the most used for initial screening.…”

Section: Discussionmentioning

confidence: 97%

“…The study done in Australia reported 10 positive cases after initial screening by real-time qPCR using a commercial kit, with only one case determined as false-positive after analysis by ddPCR (Kariyawasam et al , 2020). In the study carried out in Japan, 12 positive cases were reported after screening by real-time qPCR using a commercial kit, and 10 cases were determined to be false-positives after confirmatory analysis by MLPA ( Noguchi et al , 2022 ).…”

Section: Discussionmentioning

confidence: 99%

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Neonatal screening for spinal muscular atrophy: A pilot study in Brazil

Oliveira Netto,

Brusius-Facchin,

Lemos

et al. 2023

Genet. Mol. Biol.

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Spinal muscular atrophy (SMA) is considered one of the most common autosomal recessive disorders, with an estimated incidence of 1 in 10,000 live births. Testing for SMA has been recommended for inclusion in neonatal screening (NBS) panels since there are several therapies available and there is evidence of greater efficacy when introduced in the pre/early symptomatic phases. In Brazil, the National Neonatal Screening Program tests for six diseases, with a new law issued in 2021 stating that it should incorporate more diseases, including SMA. In the present study, dried blood spot (DBS) samples collected by the Reference Services of Neonatal Screening of RS and SP, to perform the conventional test were also screened for SMA, using real-time PCR, with SALSA MC002 technique. A total of 40,000 samples were analyzed, enabling the identification of four positive cases of SMA, that were confirmed by MLPA. Considering our sampling, Brazil seems to have an incidence comparable to the described in other regions. This work demonstrated that the use of the MC002 technique in samples routinely collected for the conventional NBS program is suitable to screen for SMA in our conditions and can be included in the expansion of the neonatal screening programs.

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Section: Discussionmentioning

confidence: 97%

Section: Discussionmentioning

confidence: 99%

Neonatal screening for spinal muscular atrophy: A pilot study in Brazil

Oliveira Netto,

Brusius-Facchin,

Lemos

et al. 2023

Genet. Mol. Biol.

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“…The main manifestation is progressive muscle weakness mainly in the proximal extremities, and as the disease progresses, multi-system involvement such as respiratory, digestive, and skeletal systems may occur. Fortunately, there were many ways to screen for SMA to prevent the birth of a child with SMA ( 23 – 25 ). If both spouses are SMA carriers, their offspring have a 25% probability of having SMA or the normal genotype, and a 50% probability of being carriers.…”

Section: Discussionmentioning

confidence: 99%

Analysis of spinal muscular atrophy carrier screening results in 32,416 pregnant women and 7,231 prepregnant women

Zhou,

Chen,

Zhang

et al. 2024

Front. Neurol.

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ObjectivesSpinal muscular atrophy (SMA) is an autosomal recessive disease that is one of the most common in childhood neuromuscular disorders. Our screenings are more meaningful programs in preventing birth defects, providing a significant resource for healthcare professionals, genetic counselors, and policymakers involved in designing strategies to prevent and manage SMA.MethodWe screened 39,647 participants from 2020 to the present by quantitative real-time PCR, including 7,231 pre-pregnancy participants and 32,416 pregnancy participants, to detect the presence of SMN1 gene EX7 and EX8 deletion in the DNA samples provided by the subjects. To validate the accuracy of our findings, we also utilized the Multiplex Ligation-dependent Probe Amplification (MLPA) to confirm the reliability of screening results obtained by quantitative real-time PCR.ResultAmong the 39,647 participants who were screened, 726 participants were the carriers of SMN1. The overall carrier rate was calculated to be 1.83% (95% confidence interval: 0.86–2.8%). After undergoing screening, a total of 592 pregnancy carriers were provided with genetic counseling and only 503 of their spouses (84.97, 95% confidence interval: 82.09–87.85%) voluntarily underwent SMA screening.ConclusionThis study provides crucial insights into the prevalence and distribution of SMA carriers among the female population. The identification of 726 asymptomatic carriers highlights the necessity of comprehensive screening programs to identify at-risk individuals and ensure appropriate interventions are in place to minimize the impact of SMA-related conditions.

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“…Differential diagnosis for hypotonia is difficult, particularly in the neonatal period. Development of respiratory or other problems in an infant with hypotonia can hamper the suspicion of SMA [163]. In such cases, SMA cannot be diagnosed without newborn screening, and its diagnosis will be delayed by several weeks or months because of the time needed for clinical referrals and investigations.…”

Section: Prevention Of Delayed Diagnosis Of Smamentioning

confidence: 99%

Spinal Muscular Atrophy: The Past, Present, and Future of Diagnosis and Treatment

Nishio

Niba

Saitô

et al. 2023

IJMS

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Spinal muscular atrophy (SMA) is a lower motor neuron disease with autosomal recessive inheritance. The first cases of SMA were reported by Werdnig in 1891. Although the phenotypic variation of SMA led to controversy regarding the clinical entity of the disease, the genetic homogeneity of SMA was proved in 1990. Five years later, in 1995, the gene responsible for SMA, SMN1, was identified. Genetic testing of SMN1 has enabled precise epidemiological studies, revealing that SMA occurs in 1 of 10,000 to 20,000 live births and that more than 95% of affected patients are homozygous for SMN1 deletion. In 2016, nusinersen was the first drug approved for treatment of SMA in the United States. Two other drugs were subsequently approved: onasemnogene abeparvovec and risdiplam. Clinical trials with these drugs targeting patients with pre-symptomatic SMA (those who were diagnosed by genetic testing but showed no symptoms) revealed that such patients could achieve the milestones of independent sitting and/or walking. Following the great success of these trials, population-based newborn screening programs for SMA (more precisely, SMN1-deleted SMA) have been increasingly implemented worldwide. Early detection by newborn screening and early treatment with new drugs are expected to soon become the standards in the field of SMA.

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PCR-Based Screening of Spinal Muscular Atrophy for Newborn Infants in Hyogo Prefecture, Japan

Cited by 16 publications

References 47 publications

Neonatal screening for spinal muscular atrophy: A pilot study in Brazil

Neonatal screening for spinal muscular atrophy: A pilot study in Brazil

Analysis of spinal muscular atrophy carrier screening results in 32,416 pregnant women and 7,231 prepregnant women

Spinal Muscular Atrophy: The Past, Present, and Future of Diagnosis and Treatment

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