First-trimester prenatal diagnosis of spinal muscular atrophy using microsatellite markers
- 1 June 1994
- journal article
- Published by Wiley in Prenatal Diagnosis
- Vol. 14 (6) , 459-462
- https://doi.org/10.1002/pd.1970140608
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.Keywords
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