دورية أكاديمية
Neonatal screening for spinal muscular atrophy: A pilot study in Brazil
| العنوان: | Neonatal screening for spinal muscular atrophy: A pilot study in Brazil |
|---|---|
| المؤلفون: | Alice Brinckmann Oliveira Netto, Ana Carolina Brusius-Facchin, Júlia F. Lemos, Fernanda B. Pasetto, Carolina S. Brasil, Franciele B. Trapp, Jonas Alex Morales Saute, Karina Carvalho Donis, Michele Michelin Becker, Paloma Wiest, Vivian L. S. Coutinho, Simone Castro, Juliana Ferreira, Cynthia Silveira, Maria Fernanda R. Bittar, Cristina Wang, Janaina M. Lana, Marcondes Cavalcante França Junior, Roberto Giugliani |
| المصدر: | Genetics and Molecular Biology, Vol 46, Iss 3 suppl 1 (2023) |
| بيانات النشر: | Sociedade Brasileira de Genética, 2023. |
| سنة النشر: | 2023 |
| المجموعة: | LCC:Genetics |
| مصطلحات موضوعية: | Spinal Muscular Atrophy, neonatal screening, Brazil, real-time PCR, MLPA, Genetics, QH426-470 |
| الوصف: | Abstract 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. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 1678-4685 |
| Relation: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572023000600110&lng=en&tlng=en; http://www.scielo.br/pdf/gmb/v46n3s1/1415-4757-GMB-46-03-s1-e20230126.pdf; https://doaj.org/toc/1678-4685 |
| DOI: | 10.1590/1678-4685-gmb-2023-0126 |
| URL الوصول: | https://doaj.org/article/bb63942c602844df9fba620e64c78881 |
| رقم الأكسشن: | edsdoj.bb63942c602844df9fba620e64c78881 |
| قاعدة البيانات: | Directory of Open Access Journals |
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