Single Circulating Fetal Trophoblastic Cells Eligible for Non Invasive Prenatal Diagnosis: the Exception Rather than the Rule
| Autor: | Cyril Goizet, Patrick Calvas, Marie-Claire Vincent, Claire Guissart, Virginie Dorian, Nicolas Molinari, Caroline Rooryck-Thambo, Cathy Liautard-Haag, Annabelle Chaussenot, Romain Favre, Catherine Alix-Panabières, Sandra Pierredon, Laetitia Monteil, Philippe Khau Van Kien, Mélanie Fradin, Amandine Boureau-Wirth, Marion Imbert-Bouteille, Emmanuelle Haquet, Elsa Le Boette, Yuliya Petrov, Jacques Puechberty, Cécile Zordan, Céline Moutou, Laure Cayrefourcq, Cécile Rouzier, Marjolaine Willems, Claire Miry |
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| Přispěvatelé: | Laboratoire de génétique des maladies rares. Pathologie moleculaire, etudes fonctionnelles et banque de données génétiques (LGMR), Université Montpellier 1 (UM1)-IFR3, Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), CHU Strasbourg, Département de génétique médicale, maladies rares et médecine personnalisée [CHRU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Hôpital de la Colombière, CHU de Bordeaux Pellegrin [Bordeaux], Dpt génétique médicale [CHU Nice], Centre Hospitalier Universitaire de Nice (CHU Nice), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Les Hôptaux universitaires de Strasbourg (HUS), Hôpital Universitaire Carémeau [Nîmes] (CHU Nîmes), Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Centre hospitalier Saint-Brieuc, Salvy-Córdoba, Nathalie |
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
MESH: Trophoblasts Molecular biology lcsh:Medicine Diseases Disease Cell Separation 0302 clinical medicine Trinucleotide Repeats Prenatal Diagnosis lcsh:Science MESH: High-Throughput Nucleotide Sequencing Genetics Whole Genome Amplification 030219 obstetrics & reproductive medicine Multidisciplinary Molecular medicine High-Throughput Nucleotide Sequencing Trophoblasts Huntington Disease Microsatellite Single-Cell Analysis Biotechnology MESH: Trinucleotide Repeats Cell biology Prenatal diagnosis Biology [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics MESH: Cell Separation Article 03 medical and health sciences Medical research Fetus Multiplex polymerase chain reaction Humans Allele MESH: Prenatal Diagnosis Genotyping MESH: Humans Point mutation lcsh:R Health care MESH: Fetus MESH: Huntington Disease 030104 developmental biology [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics Feasibility Studies lcsh:Q MESH: Feasibility Studies MESH: Single-Cell Analysis |
| Zdroj: | Scientific Reports Scientific Reports, 2020, 10 (1), pp.9861. ⟨10.1038/s41598-020-66923-9⟩ Scientific Reports, Vol 10, Iss 1, Pp 1-10 (2020) |
| ISSN: | 2045-2322 |
| DOI: | 10.1038/s41598-020-66923-9⟩ |
| Popis: | Non-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. |
| Databáze: | OpenAIRE |
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