title: Newborn and carrier screening for spinal muscular atrophy.
abstract: Spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disorder caused by mutations in the survival motor neuron (SMN1) gene, affecting approximately 1 in 10,000 live births. The homozygous absence of SMN1 exon 7 has been observed in the majority of patients and is being utilized as a reliable and sensitive SMA diagnostic test. Treatment and prevention of SMA are complementary responses to the challenges presented by SMA. Even though a specific therapy for SMA is not currently available, a newborn screening test may allow the child to be enrolled in a clinical trial before irreversible neuronal loss occurs and enable patients to obtain more proactive treatments. Until an effective treatment is found to cure or arrest the progression of the disease, prevention of new cases through accurate diagnosis and carrier and prenatal diagnosis is of the utmost importance. The goal of population-based SMA carrier screening is to identify couples at risk for having a child with SMA, thus allowing carriers to make informed reproductive choices. During this study we performed two pilot projects addressing the clinical applicability of testing in the newborn period and carrier screening in the general population. We have demonstrated that an effective technology does exist for newborn screening of SMA. We also provide an estimate of the carrier frequency among individuals who accepted carrier screening, and report on patient's knowledge and attitudes toward SMA testing.
authors.affiliation: Department of Pathology, The Ohio State University, Columbus, Ohio 43210, USA. thomas.prior@osumc.edu
authors.forename: Thomas W
authors.initials: TW
authors.lastname: Prior
authors.forename: Pamela J
authors.initials: PJ
authors.lastname: Snyder
authors.forename: Britton D
authors.initials: BD
authors.lastname: Rink
authors.forename: Dennis K
authors.initials: DK
authors.lastname: Pearl
authors.forename: Robert E
authors.initials: RE
authors.lastname: Pyatt
authors.forename: David C
authors.initials: DC
authors.lastname: Mihal
authors.forename: Todd
authors.initials: T
authors.lastname: Conlan
authors.forename: Betsy
authors.initials: B
authors.lastname: Schmalz
authors.forename: Laura
authors.initials: L
authors.lastname: Montgomery
authors.forename: Katie
authors.initials: K
authors.lastname: Ziegler
authors.forename: Carolee
authors.initials: C
authors.lastname: Noonan
authors.forename: Sayaka
authors.initials: S
authors.lastname: Hashimoto
authors.forename: Shannon
authors.initials: S
authors.lastname: Garner
mesh_terms: D005453:Fluorescence; D005838:Genotype; D006306:Health Surveys; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D009134:Muscular Atrophy, Spinal / Q000175:diagnosis* / Q000235:genetics*; D015997:Neonatal Screening; D055533:Survival of Motor Neuron 1 Protein / Q000235:genetics
chemical_list: D055533:Survival of Motor Neuron 1 Protein