Literature DB >> 25867715

Clinical implementation of NIPT - technical and biological challenges.

P Brady1, N Brison1, K Van Den Bogaert1, T de Ravel1, H Peeters1, H Van Esch1, K Devriendt1, E Legius1, J R Vermeesch1.   

Abstract

Non-invasive prenatal testing (NIPT) for fetal aneuploidy detection is increasingly being offered in the clinical setting. Whereas the majority of tests only report fetal trisomies 21, 18 and 13, genome-wide analyses have the potential to detect other fetal, as well as maternal, aneuploidies. In this review, we discuss the technical and clinical advantages and challenges associated with genome-wide cell-free fetal DNA profiling.
© 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Entities:  

Keywords:  cell-free DNA, (cfDNA); cell-free fetal DNA, (cffDNA); copy number variation, (CNV); genome sequencing; mosaicism; non-invasive prenatal testing, (NIPT); prenatal diagnosis

Mesh：

Substances：

Year:  2015        PMID： 25867715     DOI： 10.1111/cge.12598

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  23 in total

Review 1.  Noninvasive prenatal testing for aneuploidy using cell-free DNA - New implications for maternal health.

Authors:  Lisa Hui
Journal:  Obstet Med       Date:  2016-06-07

Review 2.  Prenatal and pre-implantation genetic diagnosis.

Authors:  Joris Robert Vermeesch; Thierry Voet; Koenraad Devriendt
Journal:  Nat Rev Genet       Date:  2016-09-15       Impact factor: 53.242

Review 3.  Genomics-based non-invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women.

Authors:  Mylène Badeau; Carmen Lindsay; Jonatan Blais; Leon Nshimyumukiza; Yemisi Takwoingi; Sylvie Langlois; France Légaré; Yves Giguère; Alexis F Turgeon; William Witteman; François Rousseau
Journal:  Cochrane Database Syst Rev       Date:  2017-11-10

Review 4.  Pre- and post-test genetic counseling for chromosomal and Mendelian disorders.

Authors:  Jill Fonda Allen; Katie Stoll; Barbara A Bernhardt
Journal:  Semin Perinatol       Date:  2015-12-21       Impact factor: 3.300

5.  Unexplained False Negative Results in Noninvasive Prenatal Testing: Two Cases Involving Trisomies 13 and 18.

Authors:  R Hochstenbach; G C M L Page-Christiaens; A C C van Oppen; K D Lichtenbelt; J J T van Harssel; T Brouwer; G T R Manten; P van Zon; M Elferink; K Kusters; O Akkermans; J K Ploos van Amstel; G H Schuring-Blom
Journal:  Case Rep Genet       Date:  2015-06-07

6.  Performance Evaluation of NIPT in Detection of Chromosomal Copy Number Variants Using Low-Coverage Whole-Genome Sequencing of Plasma DNA.

Authors:  Hongtai Liu; Ya Gao; Zhiyang Hu; Linhua Lin; Xuyang Yin; Jun Wang; Dayang Chen; Fang Chen; Hui Jiang; Jinghui Ren; Wei Wang
Journal:  PLoS One       Date:  2016-07-14       Impact factor: 3.240

Review 7.  Non-invasive prenatal testing for fetal chromosome abnormalities: review of clinical and ethical issues.

Authors:  Jean Gekas; Sylvie Langlois; Vardit Ravitsky; François Audibert; David Gradus van den Berg; Hazar Haidar; François Rousseau
Journal:  Appl Clin Genet       Date:  2016-02-04

8.  Implementation of non-invasive prenatal testing by semiconductor sequencing in a genetic laboratory.

Authors:  Annelies Dheedene; Tom Sante; Matthias De Smet; Jean-François Vanbellinghen; Bernard Grisart; Sarah Vergult; Sandra Janssens; Björn Menten
Journal:  Prenat Diagn       Date:  2016-07-01       Impact factor: 3.050

9.  Women's Experience with Non-Invasive Prenatal Testing and Emotional Well-being and Satisfaction after Test-Results.

Authors:  Rachèl V van Schendel; G C M Lieve Page-Christiaens; Lean Beulen; Caterina M Bilardo; Marjon A de Boer; Audrey B C Coumans; Brigitte H W Faas; Irene M van Langen; Klaske D Lichtenbelt; Merel C van Maarle; Merryn V E Macville; Dick Oepkes; Eva Pajkrt; Lidewij Henneman
Journal:  J Genet Couns       Date:  2017-06-30       Impact factor: 2.537

10.  Trial by Dutch laboratories for evaluation of non-invasive prenatal testing. Part I-clinical impact.

Authors:  Dick Oepkes; G C Lieve Page-Christiaens; Caroline J Bax; Mireille N Bekker; Catia M Bilardo; Elles M J Boon; G Heleen Schuring-Blom; Audrey B C Coumans; Brigitte H Faas; Robert-Jan H Galjaard; Attie T Go; Lidewij Henneman; Merryn V E Macville; Eva Pajkrt; Ron F Suijkerbuijk; Karin Huijsdens-van Amsterdam; Diane Van Opstal; E J Joanne Verweij; Marjan M Weiss; Erik A Sistermans
Journal:  Prenat Diagn       Date:  2016-11-15       Impact factor: 3.050
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