Lo Cicero S, Capon F, Melchionda S, Gennarelli M, Novelli G, Dallapiccola B
Department of Public Health and Cell Biology, Tor Vergata University of Rome; Italy.
Prenat Diagn. 1994 Jun;14(6):459-62. doi: 10.1002/pd.1970140608.
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.
