scholarly journals Motivations for Undertaking DNA Sequencing-Based Non-Invasive Prenatal Testing for Fetal Aneuploidy: A Qualitative Study with Early Adopter Patients in Hong Kong

PLoS ONE ◽  
2013 ◽  
Vol 8 (11) ◽  
pp. e81794 ◽  
Author(s):  
Huso Yi ◽  
Nina Hallowell ◽  
Sian Griffiths ◽  
Tak Yeung Leung
Keyword(s):  
Hong Kong ◽  
Qualitative Study ◽  
Dna Sequencing ◽  
Prenatal Testing ◽  
Early Adopter ◽  
Non Invasive ◽  
Fetal Aneuploidy

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 Performance of cell-free DNA sequencing-based non-invasive prenatal testing: experience on 36,456 singleton and multiple pregnancies

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Marco La Verde ◽  
Luigia De Falco ◽  
Annalaura Torella ◽  
Giovanni Savarese ◽  
Pasquale Savarese ◽  
...  
Keyword(s):  
Dna Sequencing ◽  
Retrospective Analysis ◽  
False Negative ◽  
Screening Method ◽  
Prenatal Testing ◽  
Maternal Blood ◽  
Cell Free Dna ◽  
Detection Rates ◽  
Non Invasive ◽  
Free Dna

Abstract Background This paper describes the clinical practice and performance of cell-free DNA sequencing-based non-invasive prenatal testing (NIPT) as a screening method for fetal trisomy 21, 18, and 13 (T21, T18, and T13) and sex chromosome aneuploidies (SCA) in a general Italian pregnancy population. Methods The AMES-accredited laboratory offers NIPT in maternal blood as a screening test for fetal T21, T18, T13 and SCA. Samples were sequenced on a NextSeq 550 (Illumina) using the VeriSeq NIPT Solution v1 assay. Results A retrospective analysis was performed on 36,456 consecutive maternal blood samples, including 35,650 singleton pregnancies, 800 twin pregnancies, and 6 triplet pregnancies. Samples were tested between April 2017 and September 2019. The cohort included 46% elevated-risk and 54% low-risk patients. A result indicative of a classic trisomy was found in 356 (1%) of singleton or twin samples: 254 T21, 69 T18, and 33 T13. In addition, 145 results (0.4%) were indicative of a SCA. Of the combined 501 screen-positive cases, 484 had confirmatory diagnostic testing. NIPT results were confirmed in 99.2% (247/249) of T21 cases, 91.2% (62/68) of T18 cases, 84.4% (27/32) of T13 cases, and 86.7% (117/135) of SCA cases. In the 35,955 cases reported as unaffected by a classic trisomy or SCA, no false negative cases were reported. Assuming that false negative results would be reported, the sensitivity of NIPT was 100.00% for T21 (95% Cl 98.47–100.0), T18 (95% Cl 94.17–100.0), and T13 (95% Cl 87.54–100.0). The specificities were 99.99% (95% Cl 99.98–100.0), 99.98% (95% Cl 99.96–100.0), 99.99% (95% Cl 99.97–100.0), and 99.95% (95% Cl 99.92–99.97) for T21, T18, T13, and SCA, respectively. Conclusion This retrospective analysis of a large cohort of consecutive patients who had whole-genome sequencing-based NIPT for classic trisomies and SCA shows excellent detection rates and low false positive rates.

scholarly journals Postpartum questionnaire survey of women who tested negative in a non-invasive prenatal testing: examining negative emotions towards the test

2020 ◽  
Author(s):  
Tatsuko Hirose ◽  
Nahoko Shirato ◽  
Mikiko Izumi ◽  
Keiko Miyagami ◽  
Akihiko Sekizawa
Keyword(s):  
Genetic Counseling ◽  
Negative Emotion ◽  
Negative Emotions ◽  
Prenatal Testing ◽  
Anxiety And Depression ◽  
Control Group ◽  
Psychosocial Status ◽  
Non Invasive ◽  
Fetal Aneuploidy ◽  
One Year

AbstractNon-invasive prenatal testing (NIPT) is used worldwide to screen for fetal aneuploidy. Although previous studies on the psychosocial aspects of NIPT have focused on satisfaction regarding the test, we surveyed women who experienced negative emotions after receiving NIPT. From January 2018 to March 2019, we surveyed pregnant women whose NIPT results were negative, one year after the test. Of the 526 respondents, 35 (6.7%) regretted receiving NIPT and blamed themselves for taking it. We assigned this 6.7% of respondents to the negative emotion group. Although, 76.5% of the participants in the negative emotion group reported they would like to take NIPT for their next pregnancy, it was significantly lower as compared to the control group (92%). Furthermore, 31.9% of respondents in the control group reported that they would recommend similar tests to their relatives and friends. Conversely, in the negative emotion group, this proportion was lower at 17.1%. This suggests that guilt over testing may be meaningful. Thus, this study showed that some NIPT examinees regretted taking the test and blamed themselves. Respondents reported experiencing stress, anxiety, and depression even before NIPT affirming that it is important to address pregnant women’s psychosocial status during pre-test genetic counseling.

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