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

1994; Wiley; Volume: 14; Issue: 6 Linguagem: Inglês

10.1002/pd.1970140608

1097-0223

Stefania Lo Cicero, Francesca Capon, Salvatore Melchionda, Massimo Gennarelli, Giuseppe Novelli, Bruno Dallapiccola,

Prenatal Screening and Diagnostics

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 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.