Isolation of single circulating trophoblasts from maternal circulation for noninvasive fetal copy number variant profiling
Rattachement africain : it, sg. Niveau de preuve : code pays fourni par la source.
Le résumé fourni par la source
OBJECTIVE: To develop a multi-step workflow for the isolation of circulating extravillous trophoblasts (cEVTs) by describing the key steps enabling a semi-automated process, including a proprietary algorithm for fetal cell origin genetic confirmation and copy number variant (CNV) detection. METHODS: Determination of the limit of detection (LoD) for submicroscopic CNV was performed by serial experiments with genomic DNA and single cells from Coriell cell line biobank with known imbalances of different sizes. A pregnancy population of 372 women was prospectively enrolled and blindly analyzed to evaluate the current workflow. RESULTS: An LoD of 800 Kb was demonstrated with Coriell cell lines. This level of resolution was confirmed in the clinical cohort with the identification of a pathogenic CNV of 800 Kb, also detected by chromosomal microarray. The mean number of recovered cEVTs was 3.5 cells per sample with a significant reverse linear trend between gestational age and cEVT recovery rate and number of recovered cEVTs. In twin pregnanices, evaluation of zygosity, fetal sex and copy number profiling was performed in each individual cell. CONCLUSION: Our semi-automated methodology for the isolation and single-cell analysis of cEVTS supports the feasibility of a cell-based noninvasive prenatal test for fetal genomic profiling.
Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.
Le contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.
- Titre Crossref
- Isolation of single circulating trophoblasts from maternal circulation for noninvasive fetal copy number variant profiling
- Date Crossref
- 08/12/2022
- Éditeur
- Wiley
- Type
- journal-article
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.
Où se fait cette recherche
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Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Department of Woman Child and Neonate pays non établi dans la noticeÉtablissement de santé
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KK Women's and Children's Hospital Department of Maternal Fetal Medicine pays non établi dans la noticeÉtablissement de santé
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University of Milano-Bicocca Department of Pediatrics pays non établi dans la noticeUniversité ou école supérieure
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Azienda Ospedaliera San Gerardo pays non établi dans la noticeÉtablissement de santé
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A. Menarini Biomarkers Singapore Pte Ltd pays non établi dans la noticeEntreprise
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Impact Lab Busto Arsizio Italy Cytogenetics and Molecular Genetics TOMA Advanced Biomedical Assays S.p.A. pays non établi dans la noticeStructure de recherche
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Laboratory of Medical Genetics pays non établi dans la noticeStructure de recherche
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Department of Pediatrics University of Milano‐Bicocca Monza Italy Centro Ricerca M. Tettamanti pays non établi dans la noticeUniversité ou école supérieure
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Department of Obstetrics and Gynecology MBBM Foundation Onlus at San Gerardo Hospital Monza Italy Department of Obstetrics and Gynecology pays non établi dans la noticeÉtablissement de santé
Department of Woman Child and Neonate — Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Department of Maternal Fetal Medicine — KK Women's and Children's Hospital et Department of Pediatrics — University of Milano-Bicocca, avec 6 autres affiliations.
Une affiliation ne permet pas de déduire la nationalité d’un auteur.