Two cases of placental T21 mosaicism: challenging the detection limits of non-invasive prenatal testing

2013 ◽  
Vol 33 (12) ◽  
pp. 1207-1210 ◽  
Author(s):  
Yanlin Wang ◽  
Jiansheng Zhu ◽  
Yan Chen ◽  
Shoulian Lu ◽  
Biliang Chen ◽  
...  
Keyword(s):  
Detection Limits ◽  
Prenatal Testing ◽  
Non Invasive

scholarly journals Non-invasive prenatal testing (NIPT) by low coverage genomic sequencing: Detection limits of screened chromosomal microdeletions

PLoS ONE ◽  
2020 ◽  
Vol 15 (8) ◽  
pp. e0238245 ◽  
Author(s):  
Marcel Kucharik ◽  
Andrej Gnip ◽  
Michaela Hyblova ◽  
Jaroslav Budis ◽  
Lucia Strieskova ◽  
...  
Keyword(s):  
Detection Limits ◽  
Prenatal Testing ◽  
Genomic Sequencing ◽  
Non Invasive ◽  
Low Coverage

scholarly journals Non-invasive prenatal testing by low coverage genomic sequencing: Detection limits of screened chromosomal microdeletions

2019 ◽  
Author(s):  
Marcel Kucharik ◽  
Andrej Gnip ◽  
Michaela Hyblova ◽  
Jaroslav Budis ◽  
Lucia Strieskova ◽  
...  
Keyword(s):  
In Silico ◽  
Detection Limits ◽  
Prenatal Testing ◽  
Systematic Evaluation ◽  
Whole Genome Sequencing Data ◽  
Detection Accuracy ◽  
Sequencing Data ◽  
Non Invasive ◽  
Microdeletion Syndromes ◽  
Fetal Fraction

AbstractObjectiveTo study the detection limits of chromosomal microaberrations in non-invasive prenatal testing with aim for five target microdeletion syndromes, including DiGeorge, Prader-Willi/Angelman, 1p36, Cri-Du-Chat, and Wolf-Hirschhorn syndromes.MethodWe used known cases of pathogenic deletions from ISCA database to specifically define regions critical for the target syndromes. Our approach to detect microdeletions, from whole genome sequencing data, is based on sample normalization and read counting for individual bins. We performed both an in-silico study using artificially created data sets and a laboratory test on mixed DNA samples, with known microdeletions, to assess the sensitivity of prediction for varying fetal fractions, deletion lengths, and sequencing read counts.ResultsThe in-silico study showed sensitivity of 79.3% for 10% fetal fraction with 20M read count, which further increased to 98.4% if we searched only for deletions longer than 3Mb. The test on laboratory-prepared mixed samples was in agreement with in-silico results, while we were able to correctly detect 24 out of 29 control samples.ConclusionOur results suggest that it is possible to incorporate microaberration detection into basic NIPT as part of the offered screening/diagnostics procedure, however, accuracy and reliability depends on several specific factors.What’s already known about this topic?Microdeletion detection accuracy, similarly to most common trisomies detection, was found to be dependent mostly on technical and biological parameters of the test and tested samples, such as coverage of target region, fetal fraction, size and positions of the deletions.What does this study add?Estimation of relevant regions for five chosen microdeletion syndromes. Confirmation and improvement upon previous methods. Systematic evaluation of sensitivity of microdeletion detection with read counts from 10M to 20M.

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

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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