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Created on : 02 Mar 2009
Modified on : 02 May 2009

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Bibliographical entry (without author) :

Phase III clinical validation of a non-invasive strategy for prenatal diagnosis of spinal muscular atrophy and cystic fibrosis through the genetic analysis of circulating trophoblastic cells. (Submitted)

Author(s) :

Hussein Mouawia, Jean-Philippe Jaïs, Alexandra Benachi, Ali Saker, Jean-Paul Bonnefont, Bernard Lacour, Patrizia Paterlini-Bréchot

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Abstract (English)  :

Background. Chorionic-villous sampling (CVS), the procedure of choice for prenatal diagnosis of Spinal Muscular Atrophy (SMA) and Cystic Fibrosis (CF), generates a miscarriage rate of approximately 2 percent. Clinical validation of a non-invasive approach for prenatal diagnosis of these diseases is thus an important goal of modern obstetrical care.

Methods. We performed a phase III clinical validation study of the previously reported ISET (Isolation by Size of Epithelial Trophoblastic cells) strategy for non-invasive prenatal diagnosis of SMA and CF, which targets single circulating fetal trophoblastic cells (CFTC). Since SMA and CF are uncommon diseases, statistical analysis was performed on the genetic diagnoses performed on individual CFTC: 10 analysed CFTC per mother and 32 mothers at risk of having a child affected by SMA or CF.

Findings. Results were achieved blindly and were demonstrated to be identical to those obtained by the invasive CVS approach. Sensitivity computed on the 70 CFTC with mutated genome was 100% (95%CI: 94.8-100%), and specificity computed on the 250 CFTC without mutated genome was also 100% (95%CI : 98.5-100%).

Interpretation. These results show the successful clinical validation of the ISET approach for prenatal diagnosis of SMA and CF and should stimulate the organization of larger cohort studies aimed at bringing a safe prenatal diagnosis of these two genetic disorders to clinical practice

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Keywords :

➡ pathologies of newborn ; antenatal diagnosis

Author of this record :

Bernard Bel — 02 Mar 2009

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