First-trimester prenatal diagnosis of spinal muscular atrophy using microsatellite markers

S. Lo Cicero; F. Capon; S. Melchionda; M. Gennarelli; G. Novelli; B. Dallapiccola

doi:10.1002/pd.1970140608

First-trimester prenatal diagnosis of spinal muscular atrophy using microsatellite markers

S. Lo Cicero, F. Capon, S. Melchionda, M. Gennarelli, G. Novelli, B. Dallapiccola

Research output: Contribution to journal › Article › peer-review

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	https://doi.org/10.1002/pd.1970140608
Publication status	Published - 1994

Keywords

Microsatellites
PCR analysis
Spinal muscular atrophy

ASJC Scopus subject areas

Genetics(clinical)
Obstetrics and Gynaecology

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title = "First-trimester prenatal diagnosis of spinal muscular atrophy using microsatellite markers",

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.",

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AU - Lo Cicero, S.

AU - Capon, F.

AU - Melchionda, S.

AU - Gennarelli, M.

AU - Novelli, G.

AU - Dallapiccola, B.

PY - 1994

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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

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