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

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

Research output: Contribution to journalArticlepeer-review


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 deceased 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.

Original languageEnglish
Pages (from-to)459-462
Number of pages4
JournalPrenatal Diagnosis
Issue number6
Publication statusPublished - 1994


  • Microsatellites
  • PCR analysis
  • Spinal muscular atrophy

ASJC Scopus subject areas

  • Genetics(clinical)
  • Obstetrics and Gynaecology


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