Maternal mosaicism for a large segmental duplication of 18q as a secondary finding following non-invasive prenatal testing and implications for test accuracy

2015 ◽  
Vol 35 (10) ◽  
pp. 986-989 ◽  
Author(s):  
Nicola Flowers ◽  
Joanne Kelley ◽  
Styrmir Sigurjonsson ◽  
Damien L. Bruno ◽  
Mark D. Pertile
Keyword(s):  
Segmental Duplication ◽  
Prenatal Testing ◽  
Test Accuracy ◽  
Non Invasive ◽  
Secondary Finding

scholarly journals Segmental duplication as potential biomarkers for non-invasive prenatal testing of aneuploidies

EBioMedicine ◽  
2021 ◽  
Vol 70 ◽  
pp. 103535
Author(s):  
Xinwen Chen ◽  
Yifan Li ◽  
Qiuying Huang ◽  
Xingming Lin ◽  
Xudong Wang ◽  
...  
Keyword(s):  
Segmental Duplication ◽  
Prenatal Testing ◽  
Non Invasive ◽  
Potential Biomarkers

Segmental Duplication as Potential Biomarkers for Non-Invasive Prenatal Testing of Aneuploidies

2021 ◽  
Author(s):  
Xinwen Chen ◽  
Yifan Li ◽  
Qiuying Huang ◽  
Xingming Lin ◽  
Yafang Wang ◽  
...  
Keyword(s):  
Segmental Duplication ◽  
Prenatal Testing ◽  
Non Invasive ◽  
Potential Biomarkers

Impact of non-invasive prenatal Testing (NIPT) on invasive procedures in a tertiary referral center

2015 ◽  
Vol 36 (S 01) ◽  
Author(s):  
A Kawecki ◽  
A Wolter ◽  
J Degenhardt ◽  
C Enzensberger ◽  
R Axt-Fliedner
Keyword(s):  
Prenatal Testing ◽  
Invasive Procedures ◽  
Tertiary Referral ◽  
Tertiary Referral Center ◽  
Referral Center ◽  
Non Invasive

Moving Towards Routine Non-Invasive Prenatal Testing (NIPT): Challenges Related to Women’s Autonomy

2018 ◽  
Vol 2 (2) ◽  
pp. 1-1 ◽  
Author(s):  
Stanislav Birko ◽  
◽  
Marie-Eve Lemoine ◽  
Minh Thu Nguyen ◽  
Vardit Ravitsky ◽  
...  
Keyword(s):  
Prenatal Testing ◽  
Women’S Autonomy ◽  
Women's Autonomy ◽  
Non Invasive

scholarly journals EP04.18: Validation of fetal DNA fraction estimation and its application in non‐invasive prenatal testing for aneuploidy detection in multiple pregnancies

2019 ◽  
Vol 54 (S1) ◽  
pp. 253-253
Author(s):  
M. Chen ◽  
F. Jiang ◽  
H. Yan ◽  
N. Li ◽  
J. Wang ◽  
...  
Keyword(s):  
Prenatal Testing ◽  
Multiple Pregnancies ◽  
Non Invasive ◽  
Fetal Dna

Non‐invasive prenatal testing: clinical utility and ethical concerns about recent advances

2021 ◽  
Author(s):  
Joseph Thomas ◽  
James Harraway ◽  
David Kirchhoffer
Keyword(s):  
Clinical Utility ◽  
Prenatal Testing ◽  
Ethical Concerns ◽  
Non Invasive ◽  
Recent Advances

OP75 Facts And Values In Health Technology Assessment: The Case Of Non-Invasive Prenatal Testing

2019 ◽  
Vol 35 (S1) ◽  
pp. 19-19
Author(s):  
Bart Bloemen ◽  
Maarten Jansen ◽  
Wouter Rijke ◽  
Wija Oortwijn ◽  
Gert Vanderwilt
Keyword(s):  
Health Technology Assessment ◽  
Technology Assessment ◽  
Prenatal Testing ◽  
Health Technology ◽  
Non Invasive ◽  
Relevant Evidence ◽  
Healthcare Technologies ◽  
General Abstract ◽  
Structured Questionnaire

IntroductionHealth Technology Assessment (HTA) is where facts and values meet: the evidence that is considered relevant to the assessment of a technology depends on the value framework used. In the context of the European project VALIDATE (Values in doing assessments of healthcare technologies), we assessed to what extent this interplay between facts and values is acknowledged in HTA reports on non-invasive prenatal testing (NIPT). Our aim is to gain a better understanding of this fact-value relationship, and to contribute to the development of capacity for ethical analyses in HTA.MethodsFive reviewers independently analyzed HTA reports on NIPT, obtained from the National Institute for Health Research (NIHR) HTA database, by answering a structured questionnaire on: (i) arguments, values, and conclusions; (ii) relations between values and collected evidence; (iii) operationalizations of the values involved. Ethical argumentation was analyzed using the method of specifying norms. This method holds that for general, abstract ethical principles to reach concrete cases, principles need to be specified in such a way as to achieve maximal coherence between different value commitments and practice. The results of the analysis were discussed in joint meetings to arrive at a consensus on interpretation.ResultsOur results show that the pivotal role of values in defining what counts as relevant evidence and why, is rarely acknowledged. The same holds for the importance of specifying values as a means to achieve greater coherence between the use of healthcare technologies and a range of values.ConclusionsThere is ample room for improvement in clarifying the role of values in HTA: they can serve to explain and justify what evidence is considered relevant to the assessment of a healthcare technology. Recognizing that abstract values need specification in order to reach concrete cases opens up new opportunities for exploring in what way values are affected by healthcare technologies.

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