scholarly journals Non-invasive prenatal testing for aneuploidy screening

BMJ ◽  
2020 ◽  
pp. m3930
Author(s):  
Rebecca Spencer ◽  
Hilary Hewitt ◽  
Laura McCarthy ◽  
Ruwan Wimalasundera ◽  
Pranav Pandya
Keyword(s):  
Prenatal Testing ◽  
Aneuploidy Screening ◽  
Non Invasive

scholarly journals The Knowledge, Attitude, Practices, and Satisfaction of Non-Invasive Prenatal Testing among Chinese Pregnant Women under Different Payment Schemes: A Comparative Study

2020 ◽  
Vol 17 (19) ◽  
pp. 7187
Author(s):  
Wenjun Zhu ◽  
XiaoXiao Ling ◽  
Wenru Shang ◽  
Jiayan Huang
Keyword(s):  
Genetic Counseling ◽  
Pregnant Women ◽  
Insurance Coverage ◽  
Prenatal Testing ◽  
Chi Square ◽  
Aneuploidy Screening ◽  
Logistic Regression Models ◽  
Non Invasive ◽  
Payment Schemes ◽  
Chi Square Test

Non-invasive prenatal testing (NIPT) for aneuploidy screening has been widely applied across China, and costs can affect Chinese pregnant women’s choices. This study aims to assess the knowledge, attitude, practices (KAP) and satisfaction regarding NIPT among pregnant women in China, and to further explore the relationship between payment schemes and women’s acceptability of and satisfaction with NIPT. A questionnaire survey was performed in Shenzhen and Zhengzhou, China, which separately applied “insurance coverage” and “out-of-pocket” payment scheme for NIPT. The major differences between the two cities were compared using chi-square test, Wilcoxon rank sum test, and propensity score matched analysis. Logistic regression models were applied to explore predictors for women’s acceptability and satisfaction. Compared with Zhengzhou participants, a higher proportion of Shenzhen women had heard of NIPT (87.30% vs. 64.03%), were willing to receive NIPT (91.80% vs. 80.43%) and had taken NIPT (83.12% vs. 54.54%), while their satisfaction level was lower. Having NIPT-related knowledge was associated with higher acceptability, and receiving genetic counseling helped to improve satisfaction. Besides, women with higher annual household incomes were more likely to take and be satisfied with NIPT. In conclusion, more attention should be paid to health education, subsidies for NIPT, and genetic counseling.

scholarly journals Women’s choices in non-invasive prenatal testing for aneuploidy screening: results from a single centre prior to introduction in England

2019 ◽  
Vol 105 (1) ◽  
pp. 47-52 ◽  
Author(s):  
Adalina Sacco ◽  
Hilary Hewitt ◽  
Pranav Pandya
Keyword(s):  
Trisomy 21 ◽  
Prenatal Testing ◽  
First Trimester ◽  
Routine Care ◽  
Singleton Pregnancy ◽  
Aneuploidy Screening ◽  
Non Invasive ◽  
Contingency Model ◽  
The Uk ◽  
High Chance

ObjectiveTo evaluate patient choices and uptake of non-invasive prenatal testing (NIPT) for aneuploidy screening offered in a contingency model as part of routine care.MethodWe retrospectively reviewed data for all women with a singleton pregnancy attending for routine first trimester screening over an 18-month period. Women with a ‘high-chance’ of trisomy 21, 18 or 13 (≥1:150) were offered the choice of no further testing, NIPT or invasive testing, in line with the screening pathway recommended by the UK National Screening Committee.ResultsOf 9342 women attending for a first trimester ultrasound scan, 7939 women were included in this study. Of these, 352 had a high-chance screening result for trisomy 21, and 291 (82.7%) opted for NIPT. The proportion of women opting for NIPT decreased as the chance of trisomy 21 increased: uptake was 93.2%, 90.0%, 77.1% and 47.2% for women with a chance of 1:100–150, 1:50–99, 1:10–49 and >1:10, respectively. 516 women (5.5%) accessed primary NIPT screening in the private sector, and 638 women (6.8%) declined any aneuploidy screening or testing.ConclusionImplementation of NIPT testing in a contingency model has a high uptake in a non-research National Health Service setting; the rate of uptake is related to the combined test risk result.

scholarly journals Aneuploidy screening by non-invasive prenatal testing in twin pregnancy

2017 ◽  
Vol 49 (4) ◽  
pp. 470-477 ◽  
Author(s):  
L. Fosler ◽  
P. Winters ◽  
K. W. Jones ◽  
K. J. Curnow ◽  
A. J. Sehnert ◽  
...  
Keyword(s):  
Twin Pregnancy ◽  
Prenatal Testing ◽  
Aneuploidy Screening ◽  
Non Invasive

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

Introduction of non-invasive prenatal testing as a first-tier aneuploidy screening test: A survey among Dutch midwives about their role as counsellors

Midwifery ◽  
2018 ◽  
Vol 56 ◽  
pp. 1-8 ◽  
Author(s):  
Linda Martin ◽  
Janneke T. Gitsels-van der Wal ◽  
Marjon A. de Boer ◽  
Meredith Vanstone ◽  
Lidewij Henneman
Keyword(s):  
Screening Test ◽  
Prenatal Testing ◽  
Aneuploidy Screening ◽  
Non Invasive

scholarly journals PREIMPLANTATION GENETIC TESTING: Non-invasive prenatal testing for aneuploidy, copy-number variants and single-gene disorders

Reproduction ◽  
2020 ◽  
Vol 160 (5) ◽  
pp. A1-A11
Author(s):  
J Shaw ◽  
E Scotchman ◽  
N Chandler ◽  
L S Chitty
Keyword(s):  
Copy Number ◽  
Sex Chromosome ◽  
Single Gene ◽  
Copy Number Variants ◽  
Prenatal Testing ◽  
Aneuploidy Screening ◽  
Preimplantation Genetic Testing ◽  
Non Invasive ◽  
Single Gene Disorders ◽  
Cell Free Fetal Dna

The discovery of cell-free fetal DNA (cffDNA) in maternal plasma has enabled a paradigm shift in prenatal testing, allowing for safer, earlier detection of genetic conditions of the fetus. Non-invasive prenatal testing (NIPT) for fetal aneuploidies has provided an alternative, highly efficient approach to first-trimester aneuploidy screening, and since its inception has been rapidly adopted worldwide. Due to the genome-wide nature of some NIPT protocols, the commercial sector has widened the scope of cell-free DNA (cfDNA) screening to include sex chromosome aneuploidies, rare autosomal trisomies and sub-microscopic copy-number variants. These developments may be marketed as ‘expanded NIPT’ or ‘NIPT Plus’ and bring with them a plethora of ethical and practical considerations. Concurrently, cfDNA tests for single-gene disorders, termed non-invasive prenatal diagnosis (NIPD), have been developed for an increasing array of conditions but are less widely available. Despite the fact that all these tests utilise the same biomarker, cfDNA, there is considerable variation in key parameters such as sensitivity, specificity and positive predictive value depending on what the test is for. The distinction between diagnostics and screening has become blurred, and there is a clear need for the education of physicians and patients regarding the technical capabilities and limitations of these different forms of testing. Furthermore, there is a requirement for consistent guidelines that apply across health sectors, both public and commercial, to ensure that tests are validated and robust and that careful and appropriate pre-test and post-test counselling is provided by professionals who understand the tests offered.

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