Linked Life Data

12660061

Source:http://linkedlifedata.com/resource/pubmed/id/12660061

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
9362
pubmed:dateCreated
2003-3-27
pubmed:abstractText
Spinal muscular atrophy (SMA) has a prevalence of one in 6000 births and a one in 40 heterozygote frequency. We aimed to develop a routine test for non-invasive prenatal diagnosis. We tested blood with ISET (isolation by size of epithelial tumour or trophoblastic cells) in 12 pregnant women whose babies were at risk of SMA. Using genetic analysis of fetal cells, we identified SMA in all nine isolated from the three mothers carrying an affected child. There was no mutation in any of the 26 fetal cells isolated from the nine women with an unaffected child. Our results show that non-invasive detection of genetic diseases by the analysis of maternal blood is feasible.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
0140-6736
pubmed:author
pubmed:issnType
Print
pubmed:day
22
pubmed:volume
361
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1013-4
pubmed:dateRevised
2009-11-19
pubmed:meshHeading
pubmed:year
2003
pubmed:articleTitle
Prenatal diagnosis of spinal muscular atrophy by genetic analysis of circulating fetal cells.
pubmed:affiliation
Laboratoire de Biochimie A, Hôpital Necker-Enfant Malades, Paris, France.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't