title: First-trimester prenatal diagnosis of spinal muscular atrophy using microsatellite markers.
abstract: Twenty-five pregnancies at risk for spinal muscular atrophy I (SMA I) have been monitored by first-trimester prenatal diagnosis. Microsatellite markers were used in all cases to amplify polymorphic regions at the D5S125, D5S435, D5S39, D5S127, and D5S112 loci. All families, including 12 SMA I pedigrees with a decreased index child, were fully informative for DNA analysis. Three fetuses were predicted to be affected and 22 fetuses were predicted to be unaffected. Twenty-two newborns were unaffected by clinical examination at birth. These results support the accuracy of SMA I prenatal diagnosis based on linkage analysis.
authors.affiliation: Department of Public Health and Cell Biology, Tor Vergata University of Rome; Italy.
authors.forename: S
authors.initials: S
authors.lastname: Lo Cicero
authors.forename: F
authors.initials: F
authors.lastname: Capon
authors.forename: S
authors.initials: S
authors.lastname: Melchionda
authors.forename: M
authors.initials: M
authors.lastname: Gennarelli
authors.forename: G
authors.initials: G
authors.lastname: Novelli
authors.forename: B
authors.initials: B
authors.lastname: Dallapiccola
mesh_terms: D001483:Base Sequence; D004247:DNA / Q000032:analysis / Q000737:chemistry; D005260:Female; D005865:Gestational Age; D006801:Humans; D008969:Molecular Sequence Data; D009134:Muscular Atrophy, Spinal / Q000175:diagnosis* / Q000235:genetics; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012091:Repetitive Sequences, Nucleic Acid
chemical_list: D004247:DNA