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

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

Abstract 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...

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Bibliographic Details
Main Authors: George Koumbaris, Achilleas Achilleos, Michalis Nicolaou, Charalambos Loizides, Kyriakos Tsangaras, Elena Kypri, Petros Mina, Carolina Sismani, Voula Velissariou, Georgia Christopoulou, Pantelis Constantoulakis, Emmanouil Manolakos, Ioannis Papoulidis, Danai Stambouli, Marios Ioannides, Philippos Patsalis
Format: Article
Language:English
Published: BMC 2019-11-01
Series:Molecular Cytogenetics
Subjects:
NIPT
Monogenic diseases
Cell-free DNA
Aneuploidies
Microdeletions
Online Access:http://link.springer.com/article/10.1186/s13039-019-0459-8

Internet

http://link.springer.com/article/10.1186/s13039-019-0459-8

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