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Database - Alliance francophone pour l'accouchement respecté (AFAR)

Description of this bibliographical database (AFAR website)
Currently 3104 records
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Created on : 26 Jun 2007
Modified on : 02 Dec 2007

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Bibliographical entry (without author) :

Prenatal diagnosis of spinal muscular atrophy by genetic analysis of circulating fetal cells. Lancet 2003; 361: 1013–14

Author(s) :

C Béroud, M Karliova, J P Bonnefont, A Benachi, A Munnich, Y Dumez, B Lacour, P Paterlini-Bréchot

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Abstract (English)  :

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 noninvasive detection of genetic diseases by the analysis of maternal blood is feasible.

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Keywords :

➡ pathologies of newborn ; screening ; antenatal diagnosis

Author of this record :

Bernard Bel — 26 Jun 2007

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