Non-invasive prenatal testing for rare chromosomal anomalies

Gineco eu ◽  
2016 ◽  
Vol 12 (4) ◽  
pp. 208-210
Author(s):  
Coroleauca C.
Keyword(s):  
Prenatal Testing ◽  
Chromosomal Anomalies ◽  
Non Invasive

Ethical Issues Relating to Prenatal Genetic Testing

2021 ◽  
Vol 66 (Special Issue) ◽  
pp. 141-141
Author(s):  
Adeline Perrot ◽  
◽  
Ruth Horn ◽  
◽  
◽  
...  
Keyword(s):  
Social Inclusion ◽  
Ethical Issues ◽  
Prenatal Testing ◽  
Chromosomal Anomalies ◽  
Reproductive Choice ◽  
Clinical Implementation ◽  
Policy Document ◽  
Non Invasive ◽  
Second Tier ◽  
Routine Antenatal Care

"Introduction: Non-invasive prenatal testing (NIPT) is a rapidly developing genomic technology that is constantly widening its scope and opening up new possibilities in reproductive medicine. Ten years after NIPT has been made commercially available, it is increasingly entering routine antenatal care as either a first- or second-tier test. In England, France and Germany, for example, NIPT has been made available free-of-charge as a second-tier test to women with a higher chance of common chromosomal anomalies. The clinical implementation of NIPT carries benefits but also raises important ethical questions. Our project analyses these questions within their specific contexts in England, France and Germany. Methods: As part of a wider research project, which will involve qualitative methods, we conducted a document analysis to compare arguments about, and regulations governing NIPT in the three countries in: law and policy document; public reports; medical press; academic literature; and media. Results: Despite the similarities between the three countries to offer NIPT as a second-tier screening tool, they exhibit differences with regard to their public discourses about prenatal genomics, screening policies, the risk-thresholds they use, professional regulations and laws. These differences have an impact on the way ethical issues emerge, and questions about the meaning of health, illness and disability, the scope of public health interventions, social inclusion and exclusion as well as reproductive choice are approached in each country. "

scholarly journals Strategy for Use of Genome-Wide Non-Invasive Prenatal Testing for Rare Autosomal Aneuploidies and Unbalanced Structural Chromosomal Anomalies

2020 ◽  
Vol 9 (8) ◽  
pp. 2466
Author(s):  
Pascale Kleinfinger ◽  
Laurence Lohmann ◽  
Armelle Luscan ◽  
Detlef Trost ◽  
Laurent Bidat ◽  
...  
Keyword(s):  
Prenatal Testing ◽  
Diagnostic Procedures ◽  
Screening Strategy ◽  
Maternal Serum ◽  
Chromosomal Anomalies ◽  
Maternal Serum Screening ◽  
Non Invasive ◽  
Genome Wide ◽  
A Genome ◽  
Increased Risk

Atypical fetal chromosomal anomalies are more frequent than previously recognized and can affect fetal development. We propose a screening strategy for a genome-wide non-invasive prenatal test (NIPT) to detect these atypical chromosomal anomalies (ACAs). Two sample cohorts were tested. Assay performances were determined using Cohort A, which consisted of 192 biobanked plasma samples—42 with ACAs, and 150 without. The rate of additional invasive diagnostic procedures was determined using Cohort B, which consisted of 3097 pregnant women referred for routine NIPT. Of the 192 samples in Cohort A, there were four initial test failures and six discordant calls; overall sensitivity was 88.1% (37/42; CI 75.00–94.81) and specificity was 99.3% (145/146; CI 96.22–99.88). In Cohort B, there were 90 first-pass failures (2.9%). The rate of positive results indicating an anomaly was 1.2% (36/3007) and 0.57% (17/3007) when limited to significant unbalanced chromosomal anomalies and trisomies 8, 9, 12, 14, 15, 16, and 22. These results show that genome-wide NIPT can screen for ACAs with an acceptable sensitivity and a small increase in invasive testing, particularly for women with increased risk following maternal serum screening and by limiting screening to structural anomalies and the most clinically meaningful trisomies.

Detection of fetal chromosomal anomalies: does nuchal translucency measurement have added value in the era of non-invasive prenatal testing?

2015 ◽  
Vol 35 (7) ◽  
pp. 663-668 ◽  
Author(s):  
K. D. Lichtenbelt ◽  
B. D. M. Diemel ◽  
M. P. H. Koster ◽  
G. T. R. Manten ◽  
J. Siljee ◽  
...  
Keyword(s):  
Prenatal Testing ◽  
Nuchal Translucency ◽  
Added Value ◽  
Chromosomal Anomalies ◽  
Non Invasive ◽  
Nuchal Translucency Measurement

Prenatal screening and non-invasive prenatal testing regulation in the Russian Federation

2020 ◽  
Vol 19 (6) ◽  
pp. 124-132
Author(s):  
A.S. Olenev ◽  
◽  
E.E. Baranova ◽  
O.V. Sagaydak ◽  
A.M. Galaktionova ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Russian Federation ◽  
Prenatal Screening ◽  
Prenatal Testing ◽  
High Sensitivity ◽  
Chromosomal Anomalies ◽  
Non Invasive ◽  
Fetal Dna ◽  
Cell Free Fetal Dna ◽  
The Russian Federation

Congenital malformations, chromosomal and monogenic disease play a significant role in perinatal mortality and child disability. According to the early prenatal screening results in the Russian Federation in 2018, the overall ratio of chromosomal anomaly prevalence is 1:250–1:300. Currently aneuploidy risk is calculated by using indirect biochemical and ultrasound markers, that have low sensitivity and specificity which can cause false positives and false negative results leading to unreasonable invasive procedures or missing chromosomal anomalies. It is well known that cell-free fetal DNA is detected in maternal blood. Whole‐genome sequencing based non-invasive prenatal testing (NIPT) can detect fetal chromosomal aneuploidy with high sensitivity as early as 10 weeks into pregnancy. The accuracy of determining fetal sex is also high: sensitivity and specificity are 98,9% and 99,9% respectively. Implementing molecular technology into clinical practice is required to improve prenatal diagnosis in the Russian Federation, icluding Moscow. Integration of NIPT to analyse cell-free fetal DNA will increase the efficiency of fetal chromosomal anomalies’ detection. However, there are some legal and ethical aspects to consider when integrating a new technology for wide-spread use. This review reveals arguable issues of NIPT integration into widespread clinical practice and possible ways of solving those issues. Key words: NIPT, noninvasive prenatal test, prenatal screening, fetal sex, invasive prenatal diagnosis, X-linked disease, chromosomal anomaly, chromosomal microarray analysis

Initial experience with non-invasive prenatal testing of cell-free DNA for major chromosomal anomalies in a clinical setting

2014 ◽  
Vol 28 (10) ◽  
pp. 1196-1201 ◽  
Author(s):  
Carmina Comas ◽  
Mónica Echevarria ◽  
M Angeles Rodríguez ◽  
Pilar Prats ◽  
Ignacio Rodríguez ◽  
...  
Keyword(s):  
Clinical Setting ◽  
Prenatal Testing ◽  
Chromosomal Anomalies ◽  
Initial Experience ◽  
Cell Free Dna ◽  
Non Invasive ◽  
Free Dna

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
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