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 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.

Israeli Society of Medical Genetics NIPT Committee Opinion 072013: Non-Invasive Prenatal Testing of Cell-Free DNA in Maternal Plasma for Detection of Fetal Aneuploidy

2014 ◽  
Vol 36 (3) ◽  
pp. 242-244 ◽  
Author(s):  
Rachel Michaelson-Cohen ◽  
Ruth Gershoni-Baruch ◽  
Reuven Sharoni ◽  
Mordechai Shochat ◽  
Yuval Yaron ◽  
...  
Keyword(s):  
Prenatal Testing ◽  
Maternal Plasma ◽  
Medical Genetics ◽  
Israeli Society ◽  
Cell Free Dna ◽  
Non Invasive ◽  
Fetal Aneuploidy ◽  
Free Dna

scholarly journals Expanding the application of non-invasive prenatal testing in the detection of foetal chromosomal copy number variations

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Chaohong Wang ◽  
Junxiang Tang ◽  
Keting Tong ◽  
Daoqi Huang ◽  
Huayu Tu ◽  
...  
Keyword(s):  
Copy Number ◽  
Prenatal Testing ◽  
Trisomy 13 ◽  
Clinical Samples ◽  
Chromosomal Microarray Analysis ◽  
True Positive ◽  
Predictive Values ◽  
Non Invasive ◽  
Chromosome Aneuploidy

Abstract Purpose The aim of this study was to assess the detection efficiency and clinical application value of non-invasive prenatal testing (NIPT) for foetal copy number variants (CNVs) in clinical samples from 39,002 prospective cases. Methods A total of 39,002 pregnant women who received NIPT by next-generation sequencing (NGS) with a sequencing depth of 6 M reads in our centre from January 2018 to April 2020 were enrolled. Chromosomal microarray analysis (CMA) was further used to diagnose suspected chromosomal aneuploidies and chromosomal microdeletion/microduplication for consistency assessment. Results A total of 473 pregnancies (1.213%) were positive for clinically significant foetal chromosome abnormalities by NIPT. This group comprised 99 trisomy 21 (T21, 0.254%), 30 trisomy 18 (T18, 0.077%), 25 trisomy 13 (T13, 0.064%), 155 sex chromosome aneuploidy (SCA, 0.398%), 69 rare trisomy (0.177%), and 95 microdeletion/microduplication syndrome (MMS, 0.244%) cases. Based on follow-up tests, the positive predictive values (PPVs) for the T21, T18, T13, SCA, rare trisomy, and MMS cases were calculated to be 88.89%, 53.33%, 20.00%, 40.22%, 4.88%, and 49.02%, respectively. In addition, the PPVs of CNVs of < 5 Mb, 5–10 Mb, and > 10 Mb were 54.55%, 38.46%, and 40.00%, respectively. Among the 95 cases with suspected CNVs, 25 were diagnosed as true positive and 26 cases as false positive; follow-up prenatal diagnosis by CMA was not performed for 44 cases. Moreover, among the 25 true positive cases, 10 were pathogenic, 3 were likely pathogenic, and 12 were of uncertain significance. Conclusion NIPT is not only suitable for screening T21, T18, T13, and SCA but also has potential significance for CNV detection. As combined with ultrasound, extended NIPT is effective for screening MMS. However, NIPT should not be recommended for whole-chromosome aneuploidy screening.

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
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