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Prenatal diagnosis of spinal muscular atrophy by genetic analysis of circulating fetal cells
| Content Provider | Semantic Scholar |
|---|---|
| Author | Béroud, Christophe Karliova, Marc Bonnefont, J.-P. Benachi, Alexandra Paterlini-Bréchot, Patrizia |
| Copyright Year | 2003 |
| Abstract | 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. |
| Starting Page | 1013 |
| Ending Page | 1014 |
| Page Count | 2 |
| File Format | PDF HTM / HTML |
| DOI | 10.1016/S0140-6736(03)12798-5 |
| PubMed reference number | 12660061 |
| Journal | Medline |
| Volume Number | 361 |
| Alternate Webpage(s) | http://www.rarecellsdiagnostics.com/wp-content/uploads/2014/08/Beroud-2003.pdf |
| Alternate Webpage(s) | https://api.elsevier.com/content/article/pii/S0140673603127985 |
| Alternate Webpage(s) | https://www.sciencedirect.com/science/article/pii/S0140673603127985?dgcid=api_sd_search-api-endpoint |
| Alternate Webpage(s) | https://doi.org/10.1016/S0140-6736%2803%2912798-5 |
| Journal | The Lancet |
| Language | English |
| Access Restriction | Open |
| Content Type | Text |
| Resource Type | Article |
