Cargando…

Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases

BACKGROUND: Non-invasive prenatal testing (NIPT) has been widely adopted for the detection of fetal aneuploidies and microdeletion syndromes, nevertheless, limited clinical utilization has been reported for the non-invasive prenatal screening of monogenic diseases. In this study, we present the deve...

Descripción completa

Detalles Bibliográficos
Autores principales:	Koumbaris, George, Achilleos, Achilleas, Nicolaou, Michalis, Loizides, Charalambos, Tsangaras, Kyriakos, Kypri, Elena, Mina, Petros, Sismani, Carolina, Velissariou, Voula, Christopoulou, Georgia, Constantoulakis, Pantelis, Manolakos, Emmanouil, Papoulidis, Ioannis, Stambouli, Danai, Ioannides, Marios, Patsalis, Philippos
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2019
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6873497/ https://www.ncbi.nlm.nih.gov/pubmed/31832098 http://dx.doi.org/10.1186/s13039-019-0459-8

Ejemplares similares

MeDIP combined with in-solution targeted enrichment followed by NGS: Inter-individual methylation variability of fetal-specific biomarkers and their implementation in a proof of concept study for NIPT
por: Keravnou, Anna, et al.
Publicado: (2018)

Non-invasive prenatal testing of fetal chromosomal aneuploidies: validation and clinical performance of the veracity test
por: Kypri, Elena, et al.
Publicado: (2019)

Targeted capture enrichment assay for non-invasive prenatal testing of large and small size sub-chromosomal deletions and duplications
por: Neofytou, Maria C., et al.
Publicado: (2017)

Development of a new methylation‐based fetal fraction estimation assay using multiplex ddPCR
por: Ioannides, Marios, et al.
Publicado: (2019)

Clinical application of whole-genome array CGH during prenatal diagnosis: Study of 25 selected pregnancies with abnormal ultrasound findings or apparently balanced structural aberrations
por: Evangelidou, Paola, et al.
Publicado: (2010)

Whole-genome fetal and maternal DNA methylation analysis using MeDIP-NGS for the identification of differentially methylated regions
por: KERAVNOU, ANNA, et al.
Publicado: (2016)

Implementation of High Resolution Whole Genome Array CGH in the Prenatal Clinical Setting: Advantages, Challenges, and Review of the Literature
por: Evangelidou, Paola, et al.
Publicado: (2013)

Proof-of-Concept Pilot Study on Comprehensive Spatiotemporal Intra-Patient Heterogeneity for Colorectal Cancer With Liver Metastasis
por: Kyrochristos, Ioannis D., et al.
Publicado: (2022)

Inter-individual methylation variability in differentially methylated regions between maternal whole blood and first trimester CVS
por: Ioannides, Marios, et al.
Publicado: (2014)

A Prenatally Ascertained De Novo Terminal Deletion of Chromosomal Bands 1q43q44 Associated with Multiple Congenital Abnormalities in a Female Fetus
por: Sismani, Carolina, et al.
Publicado: (2015)

The Epigenome View: An Effort towards Non-Invasive Prenatal Diagnosis
por: Papageorgiou, Elisavet A., et al.
Publicado: (2014)

Investigation of Clinically Significant Molecular Aberrations in Patients with Prostate Cancer: Implications for Personalized Treatment, Prognosis and Genetic Testing
por: Fountzilas, Elena, et al.
Publicado: (2023)

Clinical Significance of Germline Cancer Predisposing Variants in Unselected Patients with Pancreatic Adenocarcinoma
por: Fountzilas, Elena, et al.
Publicado: (2021)

Systematic evaluation of NIPT aneuploidy detection software tools with clinically validated NIPT samples
por: Paluoja, Priit, et al.
Publicado: (2021)

Cryptic genomic imbalances in patients with de novo or familial apparently balanced translocations and abnormal phenotype
por: Sismani, Carolina, et al.
Publicado: (2008)

Non-invasive prenatal testing (NIPT) by low coverage genomic sequencing: Detection limits of screened chromosomal microdeletions
por: Kucharik, Marcel, et al.
Publicado: (2020)

Prenatal diagnosis of 1p34.3 interstitial microdeletion by aCGH in a fetus with jaw bone abnormalities
por: Dagklis, Themistoklis, et al.
Publicado: (2016)

Non-invasive prenatal diagnosis of aneuploidies: new technologies and clinical applications
por: Papageorgiou, Elisavet A, et al.
Publicado: (2012)

De novo 393 kb microdeletion of 7p11.2 characterized by aCGH in a boy with psychomotor retardation and dysmorphic features
por: Varvagiannis, Konstantinos, et al.
Publicado: (2014)

Comparison of Bioinformatics Approaches for Fetal Microdeletions and Monogenic Variations Estimation in Non-invasive Prenatal Testing
por: Paul, Lizzy Teleboshe, et al.
Publicado: (2022)

Use of amplicon-based sequencing for testing fetal identity and monogenic traits with Single Circulating Trophoblast (SCT) as one form of cell-based NIPT
por: Zhuo, Xinming, et al.
Publicado: (2021)

NIPT and the concerns regarding ‘routinisation’
por: Horn, Ruth
Publicado: (2022)

Screening of 50 Cypriot Patients with Autism Spectrum Disorders or Autistic Features Using 400K Custom Array-CGH
por: Kousoulidou, Ludmila, et al.
Publicado: (2013)

Bisulfite Conversion of DNA: Performance Comparison of Different Kits and Methylation Quantitation of Epigenetic Biomarkers that Have the Potential to Be Used in Non-Invasive Prenatal Testing
por: Leontiou, Chrysanthia A., et al.
Publicado: (2015)

A new method for non-invasive prenatal diagnosis of Down syndrome using MeDIP real time qPCR
por: Patsalis, Philippos C.
Publicado: (2012)

Initial Clinical Experience with NIPT for Rare Autosomal Aneuploidies and Large Copy Number Variations
por: Harasim, Thomas, et al.
Publicado: (2022)

Why NIPT should be publicly funded
por: Bunnik, Eline Maria, et al.
Publicado: (2020)

More than an Incidentaloma: The Nonreportable NIPT
por: Jay, Allison M., et al.
Publicado: (2022)

Autophagy Induced by Proteasomal DUB Inhibitor NiPT Restricts NiPT-Mediated Cancer Cell Death
por: Chen, Jinghong, et al.
Publicado: (2020)

Identifying foetal forebrain interneurons as a target for monogenic autism risk factors and the polygenic 16p11.2 microdeletion
por: Yang, Yifei, et al.
Publicado: (2023)

Apparent Homozygosity of p.Phe508del in CFTR due to a Large Gene Deletion of Exons 4–11
por: Neocleous, Vassos, et al.
Publicado: (2014)

What do people want to know about NIPT? Content analysis of questions emailed to national NIPT information websites
por: Tamminga, Saskia, et al.
Publicado: (2017)

Terminal deletion of chromosome 13 in a fetus with normal NIPT: The added value of invasive prenatal diagnosis in the NIPT era
por: Vervecken, Evy, et al.
Publicado: (2020)

Patient experience with non-invasive prenatal testing (NIPT) as a primary screen for aneuploidy in the Netherlands
por: Kristalijn, Syanni A., et al.
Publicado: (2022)

Phenotypic Variability of 17q12 Microdeletion Syndrome – Three Cases and Review of Literature
por: Țuțulan-Cuniță, A, et al.
Publicado: (2022)

Genomic Epidemiology of the SARS-CoV-2 Epidemic in Cyprus from November 2020 to October 2021: The Passage of Waves of Alpha and Delta Variants of Concern
por: Chrysostomou, Andreas C., et al.
Publicado: (2022)

A Comprehensive Molecular Epidemiological Analysis of SARS-CoV-2 Infection in Cyprus from April 2020 to January 2021: Evidence of a Highly Polyphyletic and Evolving Epidemic
por: Chrysostomou, Andreas C., et al.
Publicado: (2021)

A Case of Class I 17p13.3 Microduplication Syndrome with Unilateral Hearing Loss
por: Vittas, Spiros, et al.
Publicado: (2023)

Maternal plasma sequencing: a powerful tool towards fetal whole genome recovery
por: Papageorgiou, Elisavet A, et al.
Publicado: (2013)

Imaging single DNA molecules for high precision NIPT
por: Dahl, Fredrik, et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_mtkl5veucgbd52hkadtq0e54ld