Information about prenatal screening for Down syndrome

2009 ◽  
Vol 77 (2) ◽  
pp. 279-288 ◽  
Author(s):  
Mirjam P. Fransen ◽  
Hajo Wildschut ◽  
Ineke Vogel ◽  
Johan Mackenbach ◽  
Eric Steegers ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Prenatal Screening

scholarly journals Routinization of prenatal screening with the non-invasive prenatal test: pregnant women’s perspectives

2021 ◽  
Author(s):  
Karuna R. M. van der Meij ◽  
Annabel Njio ◽  
Linda Martin ◽  
Janneke T. Gitsels-van der Wal ◽  
Mireille N. Bekker ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Pregnant Women ◽  
Prenatal Screening ◽  
Screening Program ◽  
Informed Choice ◽  
Aneuploidy Screening ◽  
Non Invasive ◽  
Fetal Aneuploidy ◽  
Societal Pressure ◽  
Prenatal Test

AbstractDue to the favorable test characteristics of the non-invasive prenatal test (NIPT) in the screening of fetal aneuploidy, there has been a strong and growing demand for implementation. In the Netherlands, NIPT is offered within a governmentally supported screening program as a first-tier screening test for all pregnant women (TRIDENT-2 study). However, concerns have been raised that the test’s favorable characteristics might lead to uncritical use, also referred to as routinization. This study addresses women’s perspectives on prenatal screening with NIPT by evaluating three aspects related to routinization: informed choice, freedom to choose and (personal and societal) perspectives on Down syndrome. Nationwide, a questionnaire was completed by 751 pregnant women after receiving counseling for prenatal screening. Of the respondents, the majority (75.5%) made an informed choice for prenatal screening as measured by the multidimensional measure of informed choice (MMIC). Education level and religious affiliation were significant predictors of informed choice. The main reason to accept screening was “seeking reassurance” (25.5%), and the main reason to decline was “every child is welcome” (30.6%). The majority of respondents (87.7%) did not perceive societal pressure to test. Differences between test-acceptors and test-decliners in personal and societal perspectives on Down syndrome were found. Our study revealed high rates of informed decision-making and perceived freedom to choose regarding fetal aneuploidy screening, suggesting that there is little reason for concern about routinization of NIPT based on the perspectives of Dutch pregnant women. Our findings highlight the importance of responsible implementation of NIPT within a national screening program.

New Developments in Prenatal Screening for Down Syndrome

2003 ◽  
Vol 120 (suppl_1) ◽  
pp. S14-S24
Author(s):  
Jeffrey P. Baliff ◽  
Robert A. Mooney
Keyword(s):  
Down Syndrome ◽  
Prenatal Screening ◽  
New Developments

scholarly journals Isochromosome 21q is overrepresented among false-negative cell-free DNA prenatal screening results involving Down syndrome

2018 ◽  
Vol 26 (10) ◽  
pp. 1490-1496 ◽  
Author(s):  
Karin Huijsdens-van Amsterdam ◽  
Lieve Page-Christiaens ◽  
Nicola Flowers ◽  
Michael D Bonifacio ◽  
Katie M Battese Ellis ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Prenatal Screening ◽  
False Negative ◽  
Cell Free Dna ◽  
Free Dna ◽  
Negative Cell

Desirable features in a decision aid for prenatal screening – what do pregnant women and their partners think? A mixed methods pilot study

2020 ◽  
Author(s):  
Titilayo Tatiana Agbadje ◽  
Samira Abbasgholizadeh Rahimi ◽  
Mélissa Côté ◽  
Andrée-Anne Tremblay ◽  
Mariama Penda Diallo ◽  
...  
Keyword(s):  
Decision Making ◽  
Down Syndrome ◽  
Mixed Methods ◽  
Pilot Study ◽  
Pregnant Women ◽  
Technology Acceptance ◽  
Decision Aid ◽  
Prenatal Screening ◽  
Values Clarification ◽  
Quebec City

Abstract Background To help pregnant women and their partners make informed value-congruent decisions about Down syndrome prenatal screening, our team developed two successive versions of a decision aid (DAv2017 and DAv2014). We aimed to assess pregnant women and their partners’ perceptions of the usefulness of the two DAs for preparing for decision making, their relative acceptability and their most desirable features. Methods This is a mixed methods pilot study. We recruited participants of study (women and their partners) when consulting for prenatal care in three clinical sites in Quebec City. To be eligible, women had to: (a) be at least 18 years old; (b) be more than 16 weeks pregnant; or having given birth in the previous year and (c) be able to speak and write in French or English. Both women and partners were invited to give their informed consent. We collected quantitative data on the usefulness of the DAs for preparing for decision making and their relative acceptability. We developed an interview grid based on the Technology Acceptance Model and Acceptability questionnaire to explore their perceptions of the most desirable features. We performed descriptive statistics and deductive analysis. Results Overall, 23 couples and 16 individual women participated in the study. The majority of participants were between 25 and 34 years old (79% of women and 59% of partners) and highly educated (66.7% of women and 54% of partners had a university-level education). DAv2017 scored higher for usefulness for preparing for decision making (86.2 ± 13 out of 100 for DAv2017 and 77.7 ± 14 for DAv2014). For most dimensions, DAv2017 was more acceptable than DAv2014 (e.g. the amount of information was found “just right” by 80% of participants for DAv2017 against 56% for DAv2014). However, participants preferred the presentation and the values clarification exercise of DAv2014. In their opinion, neither DA presented information in a completely balanced manner. They suggested adding more information about raising Down syndrome children, replacing frequencies with percentages, different values clarification methods, and a section for the partner. Conclusions A new user-centered version of the prenatal screening DA will integrate participants’ suggestions to reflect end users’ priorities.

Budget impact of incorporating non-invasive prenatal testing in prenatal screening for Down syndrome in Turkey

2019 ◽  
Vol 8 (4) ◽  
pp. 402-407
Author(s):  
Zeynep Guldem Okem ◽  
Gokcen Orgul ◽  
Berna Tari Kasnakoglu ◽  
Mehmet Cakar ◽  
Mehmet Sinan Beksac
Keyword(s):  
Down Syndrome ◽  
Prenatal Screening ◽  
Budget Impact ◽  
Prenatal Testing ◽  
Non Invasive

scholarly journals Trisomy 21 in both fetuses in a DCDA twin pregnancy

2019 ◽  
Vol 12 (4) ◽  
pp. e227608
Author(s):  
Jiawen Ong ◽  
Arundhati Gosavi ◽  
Arijit Biswas ◽  
Mahesh Choolani
Keyword(s):  
Down Syndrome ◽  
Trisomy 21 ◽  
Twin Pregnancy ◽  
Prenatal Screening ◽  
Chorionic Villus ◽  
Screening Tests ◽  
In Vitro Fertilisation ◽  
Chorionic Villus Sampling ◽  
Detection Rates

A woman’s chances of having a child with Down syndrome increases with age. By age 40, the risk of conceiving a child with Down syndrome is about 1 in 100. We report a rare case of dizygotic dichorionic diamniotic twin pregnancy conceived via in vitro fertilisation, with both twins having trisomy 21. Both fetuses were independently detected to be at high risk of autosomal trisomy, initially via first-trimester screening and subsequently via invasive definitive diagnostic tests (ie, chorionic villus sampling and amniocentesis).Diagnosis of trisomy 21 has to be made via initial non-invasive prenatal screening, followed by further rigorous and accurate invasive pregnancy testing for confirmation. The gravity of the results necessitates high detection rates and high specificity of prenatal screening tests. Management of the patient must be multidisciplinary and supportive in nature, involving extensive and non-directive pregnancy counselling and management, genetic counselling and management of psychological distress.

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