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6. First-trimester prenatal diagnosis of spinal muscular atrophy using microsatellite markers.

Author

Lo Cicero S, Capon F, Melchionda S, Gennarelli M, Novelli G, and Dallapiccola B

Subjects
Base Sequence, DNA analysis, DNA chemistry, Female, Humans, Molecular Sequence Data, Muscular Atrophy, Spinal genetics, Polymerase Chain Reaction, Polymorphism, Genetic, Pregnancy, Gestational Age, Muscular Atrophy, Spinal diagnosis, Prenatal Diagnosis, Repetitive Sequences, Nucleic Acid
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.

Published
1994
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