scholarly journals Down Syndrome: Clinical and Genetic Aspects, Genetic Counseling and Prenatal Screening and Diagnosis

Down Syndrome ◽  
10.5772/52950 ◽  
2013 ◽  
Author(s):  
Erika Cristina ◽  
Joice Matos ◽  
Walter Pinto ◽  
Eny Maria Goloni Bertollo
Keyword(s):  
Down Syndrome ◽  
Genetic Counseling ◽  
Prenatal Screening ◽  
Screening And Diagnosis

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.

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

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
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