Isolation and whole genome sequencing of fetal cells from maternal blood towards the ultimate non-invasive prenatal testing

2017 ◽  
Vol 37 (13) ◽  
pp. 1311-1321 ◽  
Author(s):  
Fang Chen ◽  
Ping Liu ◽  
Ying Gu ◽  
Zhu Zhu ◽  
Amulya Nanisetti ◽  
...  
Keyword(s):  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Prenatal Testing ◽  
Maternal Blood ◽  
Whole Genome ◽  
Fetal Cells ◽  
Non Invasive

scholarly journals Secondary findings from non-invasive prenatal testing for common fetal aneuploidies by whole genome sequencing as a clinical service

2013 ◽  
Vol 33 (6) ◽  
pp. 602-608 ◽  
Author(s):  
Tze Kin Lau ◽  
Fu Man Jiang ◽  
Robert J. Stevenson ◽  
Tsz Kin Lo ◽  
Lin Wai Chan ◽  
...  
Keyword(s):  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Prenatal Testing ◽  
Clinical Service ◽  
Whole Genome ◽  
Secondary Findings ◽  
Non Invasive ◽  
Fetal Aneuploidies

scholarly journals Pilot Screening of Cell-Free mtDNA in NIPT: Quality Control, Variant Calling, and Haplogroup Determination

Genes ◽  
2021 ◽  
Vol 12 (5) ◽  
pp. 743
Author(s):  
Alisa Morshneva ◽  
Polina Kozyulina ◽  
Elena Vashukova ◽  
Olga Tarasenko ◽  
Natalia Dvoynova ◽  
...  
Keyword(s):  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Variant Calling ◽  
Prenatal Testing ◽  
Large Data ◽  
Large Data Sets ◽  
Data Sets ◽  
Whole Genome ◽  
Clinical Tests ◽  
Non Invasive

Clinical tests based on whole-genome sequencing are generally focused on a single task approach, testing one or several parameters, although whole-genome sequencing (WGS) provides us with large data sets that can be used for many supportive analyses. In spite of low genome coverage, data of WGS-based non-invasive prenatal testing (NIPT) contain fully sequenced mitochondrial DNA (mtDNA). This mtDNA can be used for variant calling, ancestry analysis, population studies and other approaches that extend NIPT functionality. In this study, we analyse mtDNA pool from 645 cell-free DNA (cfDNA) samples of pregnant women from different regions of Russia, explore the effects of transportation and storing conditions on mtDNA content, analyse effects, frequency and location of mitochondrial variants called from samples and perform haplogroup analysis, revealing the most common mitochondrial superclades. We have shown that, despite the relatively low sequencing depth of unamplified mtDNA from cfDNA samples, the mtDNA analysis in these samples is still an informative instrument suitable for research and screening purposes.

scholarly journals A qualitative study of women and partners from Lebanon and Quebec regarding an expanded scope of noninvasive prenatal testing

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Hazar Haidar ◽  
Jessica Le Clerc-Blain ◽  
Meredith Vanstone ◽  
Anne-Marie Laberge ◽  
Gilles Bibeau ◽  
...  
Keyword(s):  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Medical Information ◽  
Prenatal Testing ◽  
Sex Selection ◽  
Paternity Testing ◽  
Whole Genome ◽  
Structured Interviews ◽  
Future Policy ◽  
The Impact

Abstract Background In the near future, developments in non-invasive prenatal testing (NIPT) may offer couples the opportunity to expand the range of genetic conditions tested with this technology. This possibility raises a host of ethical and social concerns, such as the type of information (medical vs. non-medical information) that couples might be exposed to and how this might complicate their informed decision-making. Currently, only limited research, mainly carried out in western countries, was conducted on women’s and partners’ views regarding the potential expansion of NIPT. Methods This study used semi-structured interviews with pregnant women and their partners to explore their views on future potential NIPT applications such as non-medical sex selection and non-medical traits, paternity testing, and NIPT use for fetal whole genome sequencing (FWGS). It was conducted in Lebanon and Quebec, as case studies to explore the impact of cultural differences on these views. Results We found no differences and many similarities when comparing the perceptions of participants in both contexts. While couples in both settings disapproved of the use of NIPT for non-medical sex selection and non-medical traits such as physical characteristics, they were near-unanimous about their support for its use for paternity testing in specific cases, such as legal doubts or conflicts related to the identity of the father. Participants were more ambivalent about NIPT for Fetal Whole Genome Sequencing. They supported this use to detect conditions that would express at birth or early childhood, while objecting to testing for adult-onset conditions. Conclusions These results can further inform the debate on the future uses of NIPT and future policy related its implementation.

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