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 |
|---|---|
| Pages (from-to) | 459-462 |
| Number of pages | 4 |
| Journal | Prenatal Diagnosis |
| Volume | 14 |
| Issue number | 6 |
| DOIs | |
| Publication status | Published - 1994 |
Fingerprint
Keywords
- Microsatellites
- PCR analysis
- Spinal muscular atrophy
ASJC Scopus subject areas
- Genetics(clinical)
- Obstetrics and Gynaecology
Cite this
First-trimester prenatal diagnosis of spinal muscular atrophy using microsatellite markers. / Lo Cicero, S.; Capon, F.; Melchionda, S.; Gennarelli, M.; Novelli, G.; Dallapiccola, B.
In: Prenatal Diagnosis, Vol. 14, No. 6, 1994, p. 459-462.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - First-trimester prenatal diagnosis of spinal muscular atrophy using microsatellite markers
AU - Lo Cicero, S.
AU - Capon, F.
AU - Melchionda, S.
AU - Gennarelli, M.
AU - Novelli, G.
AU - Dallapiccola, B.
PY - 1994
Y1 - 1994
N2 - 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.
AB - 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.
KW - Microsatellites
KW - PCR analysis
KW - Spinal muscular atrophy
UR - http://www.scopus.com/inward/record.url?scp=0028321738&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0028321738&partnerID=8YFLogxK
U2 - 10.1002/pd.1970140608
DO - 10.1002/pd.1970140608
M3 - Article
C2 - 7937582
AN - SCOPUS:0028321738
VL - 14
SP - 459
EP - 462
JO - Prenatal Diagnosis
JF - Prenatal Diagnosis
SN - 0197-3851
IS - 6
ER -