Author:
Cayrefourcq Laure,Vincent Marie-Claire,Pierredon Sandra,Moutou Céline,Imbert-Bouteille Marion,Haquet Emmanuelle,Puechberty Jacques,Willems Marjolaine,Liautard-Haag Cathy,Molinari Nicolas,Zordan Cécile,Dorian Virginie,Rooryck-Thambo Caroline,Goizet Cyril,Chaussenot Annabelle,Rouzier Cécile,Boureau-Wirth Amandine,Monteil Laetitia,Calvas Patrick,Miry Claire,Favre Romain,Petrov Yuliya,Khau Van Kien Philippe,Le Boette Elsa,Fradin Mélanie,Alix-Panabières Catherine,Guissart Claire
Abstract
AbstractNon-Invasive Prenatal Diagnosis (NIPD), based on the analysis of circulating cell-free fetal DNA (cff-DNA), is successfully implemented for an increasing number of monogenic diseases. However, technical issues related to cff-DNA characteristics remain, and not all mutations can be screened with this method, particularly triplet expansion mutations that frequently concern prenatal diagnosis requests. The objective of this study was to develop an approach to isolate and analyze Circulating Trophoblastic Fetal Cells (CFTCs) for NIPD of monogenic diseases caused by triplet repeat expansion or point mutations. We developed a method for CFTC isolation based on DEPArray sorting and used Huntington’s disease as the clinical model for CFTC-based NIPD. Then, we investigated whether CFTC isolation and Whole Genome Amplification (WGA) could be used for NIPD in couples at risk of transmitting different monogenic diseases. Our data show that the allele drop-out rate was 3-fold higher in CFTCs than in maternal cells processed in the same way. Moreover, we give new insights into CFTCs by compiling data obtained by extensive molecular testing by microsatellite multiplex PCR genotyping and by WGA followed by mini-exome sequencing. CFTCs appear to be often characterized by a random state of genomic degradation.
Publisher
Springer Science and Business Media LLC
Cited by
14 articles.
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