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.
Original language | English |
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Pages (from-to) | 459-462 |
Number of pages | 4 |
Journal | Prenatal Diagnosis |
Volume | 14 |
Issue number | 6 |
DOIs | |
Publication status | Published - 1994 |
Keywords
- Microsatellites
- PCR analysis
- Spinal muscular atrophy
ASJC Scopus subject areas
- Genetics(clinical)
- Obstetrics and Gynaecology