Sl. Cicero et al., FIRST-TRIMESTER PRENATAL-DIAGNOSIS OF SPINAL MUSCULAR-ATROPHY USING MICROSATELLITE MARKERS, Prenatal diagnosis, 14(6), 1994, pp. 459-462
Twenty-five pregnancies at risk for spinal muscular atrophy I (SMA I)
have been monitored by first-trimester prenatal diagnosis. Microsatell
ite markers were used in ah cases to amplify polymorphic regions at th
e D5S125, D5S435, D5S39, D5S127, and D5S112 loci. All families, includ
ing 12 SMA I pedigrees with a deceased index child, were fully informa
tive 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.