222
Views
0
CrossRef citations to date
0
Altmetric
Reviews

Raising obstetricians’ awareness of spinal muscular atrophy: towards early detection and reproductive planning

&
Pages 2555-2558 | Received 17 Feb 2012, Accepted 13 Jun 2012, Published online: 09 Jul 2012

References

  • Melki J. Spinal muscular atrophy. Curr Opin Neurol 1997;10:381–385.
  • Pearn J. Classification of spinal muscular atrophies. Lancet 1980;1:919–922.
  • Munsat TL, Davies KE. International SMA consortium meeting. (26-28 June 1992, Bonn, Germany). Neuromuscul Disord 1992;2:423–428.
  • Zerres K, Rudnik-Schöneborn S. Natural history in proximal spinal muscular atrophy. Clinical analysis of 445 patients and suggestions for a modification of existing classifications. Arch Neurol 1995;52:518–523.
  • Dubowitz V. Very severe spinal muscular atrophy (SMA type 0): an expanding clinical phenotype. Eur J Paediatr Neurol 1999;3:49–51.
  • Gaca M, Kokot N, Koziolek A, Kuczkowski KM. Combined spinal epidural anesthesia for cesarean section in a parturient with spinal muscle atrophy type III (Kugelberg-Walendar disease). J Matern Fetal Neonatal Med 2011;24:195.
  • Lefebvre S, Burlet P, Liu Q, Bertrandy S, Clermont O, Munnich A, Dreyfuss G, Melki J. Correlation between severity and SMN protein level in spinal muscular atrophy. Nat Genet 1997;16:265–269.
  • Lefebvre S, Bürglen L, Reboullet S, Clermont O, Burlet P, Viollet L, Benichou B, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 1995;80:155–165.
  • Alías L, Bernal S, Fuentes-Prior P, Barceló MJ, Also E, Martínez-Hernández R, Rodríguez-Alvarez FJ, et al. Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene. Hum Genet 2009;125:29–39.
  • Cuscó I, Barceló MJ, Rojas-García R, Illa I, Gámez J, Cervera C, Pou A, et al. SMN2 copy number predicts acute or chronic spinal muscular atrophy but does not account for intrafamilial variability in siblings. J Neurol 2006;253:21–25.
  • Feldkötter M, Schwarzer V, Wirth R, Wienker TF, Wirth B. Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy. Am J Hum Genet 2002;70:358–368.
  • Cuscó I, Barceló MJ, Baiget M, Tizzano EF. Implementation of SMA carrier testing in genetic laboratories: comparison of two methods for quantifying the SMN1 gene. Hum Mutat 2002;20:452–459.
  • Girardet A, Fernandez C, Claustres M. Efficient strategies for preimplantation genetic diagnosis of spinal muscular atrophy. Fertil Steril 2008;90:443.e7–443.12.
  • MacLeod MJ, Taylor JE, Lunt PW, Mathew CG, Robb SA. Prenatal onset spinal muscular atrophy. Eur J Paediatr Neurol 1999;3:65–72.
  • Parra J, Martínez-Hernández R, Also-Rallo E, Alias L, Barceló MJ, Amenedo M, Medina C, et al. Ultrasound evaluation of fetal movements in pregnancies at risk for severe spinal muscular atrophy. Neuromuscul Disord 2011;21:97–101.
  • Zadeh N, Hudgins L, Norton ME. Nuchal translucency measurement in fetuses with spinal muscular atrophy. Prenat Diagn 2011;31:327–330.
  • Parra J, Alias L, Also-Rallo E, Martínez-Hernández R, Senosiain R, Medina C, Alejos O, et al. Evaluation of fetal nuchal translucency in 98 pregnancies at risk for severe spinal muscular atrophy: possible relevance of the SMN2 copy number. J Matern Fetal Neonatal Med 2012 [Epub ahead of print].
  • Swoboda KJ, Prior TW, Scott CB, McNaught TP, Wride MC, Reyna SP, Bromberg MB. Natural history of denervation in SMA: relation to age, SMN2 copy number, and function. Ann Neurol 2005;57:704–712.
  • Wang CH, Lunn MR. Spinal muscular atrophy: advances in research and consensus on care of patients. Curr Treat Options Neurol 2008;10:420–428.
  • Pyatt RE, Mihal DC, Prior TW. Assessment of liquid microbead arrays for the screening of newborns for spinal muscular atrophy. Clin Chem 2007;53:1879–1885.
  • Melki J, Lefebvre S, Burglen L, Burlet P, Clermont O, Millasseau P, Reboullet S, et al. De novo and inherited deletions of the 5q13 region in spinal muscular atrophies. Science 1994;264:1474–1477.
  • Hendrickson BC, Donohoe C, Akmaev VR, Sugarman EA, Labrousse P, Boguslavskiy L, Flynn K, et al. Differences in SMN1 allele frequencies among ethnic groups within North America. J Med Genet 2009;46:641–644.
  • Hasanzad M, Azad M, Kahrizi K, Saffar BS, Nafisi S, Keyhanidoust Z, Azimian M, et al. Carrier frequency of SMA by quantitative analysis of the SMN1 deletion in the Iranian population. Eur J Neurol 2010;17:160–162.
  • Sugarman EA, Nagan N, Zhu H, Akmaev VR, Zhou Z, Rohlfs EM, Flynn K, et al. Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens. Eur J Hum Genet 2012;20:27–32.
  • Cuscó I, Barceló MJ, Soler C, Parra J, Baiget M, Tizzano E. Prenatal diagnosis for risk of spinal muscular atrophy. BJOG 2002;109:1244–1249.
  • Tizzano EF, Cuscó I, Barceló MJ, Parra J, Baiget M. Should gamete donors be tested for spinal muscular atrophy? Fertil Steril 2002;77:409–411.
  • Su YN, Hung CC, Lin SY, Chen FY, Chern JP, Tsai C, Chang TS, et al. Carrier screening for spinal muscular atrophy (SMA) in 107,611 pregnant women during the period 2005–2009: a prospective population-based cohort study. PLoS One 2011;6:e17067.
  • Prior TW; Professional Practice and Guidelines Committee. Carrier screening for spinal muscular atrophy. Genet Med 2008;10:840–842.
  • ACOG committee opinion No. 432: spinal muscular atrophy. Obstet Gynecol 2009;113:1194–1196.
  • Sproule DM, Kaufmann P. Therapeutic developments in spinal muscular atrophy. Ther Adv Neurol Disord 2010;3:173–185.
  • Passini MA, Cheng SH. Prospects for the gene therapy of spinal muscular atrophy. Trends Mol Med 2011;17:259–265.
  • Saller DN Jr, Canick JA. Current methods of prenatal screening for Down syndrome and other fetal abnormalities. Clin Obstet Gynecol 2008;51:24–36.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.