scholarly journals OP01.03: A clinical comparative study between conventional fetal aneuploidy screening and contingent screening using the non-invasive prenatal testing

2018 ◽  
Vol 52 ◽  
pp. 66-67
Author(s):  
A. Bernabeu ◽  
M. Sanchez ◽  
M. Aviles ◽  
J. Ramis ◽  
I. Calero ◽  
...  
Keyword(s):  
Comparative Study ◽  
Prenatal Testing ◽  
Aneuploidy Screening ◽  
Non Invasive ◽  
Fetal Aneuploidy

Contingent non-invasive prenatal testing: an opportunity to improve non-genetic aspects of fetal aneuploidy screening

2015 ◽  
Vol 35 (13) ◽  
pp. 1347-1352 ◽  
Author(s):  
Wilfried Gyselaers ◽  
Frank Hulstaert ◽  
Mattias Neyt
Keyword(s):  
Prenatal Testing ◽  
Aneuploidy Screening ◽  
Non Invasive ◽  
Fetal Aneuploidy

scholarly journals Routinization of prenatal screening with the non-invasive prenatal test: pregnant women’s perspectives

2021 ◽  
Author(s):  
Karuna R. M. van der Meij ◽  
Annabel Njio ◽  
Linda Martin ◽  
Janneke T. Gitsels-van der Wal ◽  
Mireille N. Bekker ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Pregnant Women ◽  
Prenatal Screening ◽  
Screening Program ◽  
Informed Choice ◽  
Aneuploidy Screening ◽  
Non Invasive ◽  
Fetal Aneuploidy ◽  
Societal Pressure ◽  
Prenatal Test

AbstractDue to the favorable test characteristics of the non-invasive prenatal test (NIPT) in the screening of fetal aneuploidy, there has been a strong and growing demand for implementation. In the Netherlands, NIPT is offered within a governmentally supported screening program as a first-tier screening test for all pregnant women (TRIDENT-2 study). However, concerns have been raised that the test’s favorable characteristics might lead to uncritical use, also referred to as routinization. This study addresses women’s perspectives on prenatal screening with NIPT by evaluating three aspects related to routinization: informed choice, freedom to choose and (personal and societal) perspectives on Down syndrome. Nationwide, a questionnaire was completed by 751 pregnant women after receiving counseling for prenatal screening. Of the respondents, the majority (75.5%) made an informed choice for prenatal screening as measured by the multidimensional measure of informed choice (MMIC). Education level and religious affiliation were significant predictors of informed choice. The main reason to accept screening was “seeking reassurance” (25.5%), and the main reason to decline was “every child is welcome” (30.6%). The majority of respondents (87.7%) did not perceive societal pressure to test. Differences between test-acceptors and test-decliners in personal and societal perspectives on Down syndrome were found. Our study revealed high rates of informed decision-making and perceived freedom to choose regarding fetal aneuploidy screening, suggesting that there is little reason for concern about routinization of NIPT based on the perspectives of Dutch pregnant women. Our findings highlight the importance of responsible implementation of NIPT within a national screening program.

scholarly journals VP29.11: High‐positive predictive values across maternal ages in non‐invasive prenatal testing for fetal aneuploidy

2020 ◽  
Vol 56 (S1) ◽  
pp. 183-184
Author(s):  
S. Leonard ◽  
P. Benn ◽  
E. Valenti ◽  
W. Di Nonno ◽  
Z. Demko ◽  
...  
Keyword(s):  
Prenatal Testing ◽  
Predictive Values ◽  
Non Invasive ◽  
Fetal Aneuploidy

Non-invasive prenatal testing for fetal aneuploidy by massively parallel DNA sequencing of maternal plasma: the future has arrived today/Nicht-invasiver Pränatal-Test auf fetale Aneuploidie mittels massiv-paralleler DNA-Sequenzanalyse im mütterlichen Plasma: in der Zukunft angekommen

2012 ◽  
Vol 36 (5) ◽  
Author(s):  
Amy Swanson ◽  
Christin Coffeen ◽  
Amy J. Sehnert
Keyword(s):  
Massively Parallel Sequencing ◽  
Prenatal Testing ◽  
The United States ◽  
Maternal Blood ◽  
Maternal Plasma ◽  
Massively Parallel ◽  
Clinical Implementation ◽  
Maternal Cell ◽  
Non Invasive ◽  
Fetal Aneuploidy

AbstractAfter decades of research, non-invasive prenatal testing (NIPT) using maternal blood to determine fetal chromosome status has found its way from the research laboratory into clinical practice, triggering a long-awaited paradigm shift in prenatal care. A variety of methods using sequencing of maternal cell-free DNA (cfDNA) have now been studied, primarily demonstrating their ability to detect the most common fetal aneuploidy, trisomy 21 (T21). The focus of this article is on massively parallel sequencing (MPS) with optimized sequence tag mapping and chromosome quantification, which accurately detects T21 as well as multiple other aneuploidies across the genome. The power of this technique resides in its high precision and reduction of variation within and between sequencing runs. Using MPS, classification of aneuploidy status for a given sample can be reliably assigned from the genetic information alone without the need to factor in other maternal pre-test risk or other clinical variables. Performance of this method has been prospectively demonstrated in a rigorous, blinded, multi-center study in the United States. The findings suggest that MPS can be incorporated into existing prenatal screening algorithms to reduce unnecessary invasive procedures. This technology and key considerations for clinical implementation are discussed.

scholarly journals Non-invasive prenatal testing for aneuploidy screening

BMJ ◽  
2020 ◽  
pp. m3930
Author(s):  
Rebecca Spencer ◽  
Hilary Hewitt ◽  
Laura McCarthy ◽  
Ruwan Wimalasundera ◽  
Pranav Pandya
Keyword(s):  
Prenatal Testing ◽  
Aneuploidy Screening ◽  
Non Invasive
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