Abstract
Objectives. Pregnant women, referred because of an increased risk of fetal Down syndrome, who underwent an invasive prenatal procedure were offered a choice between karyotyping and rapid targeted testing. This study aims to assess women's attitudes and experiences towards what option to choose. Methods. A retrospective multicentre survey (2008–2010) was conducted among 1370 women. General questions were asked about decision making issues, followed by personal questions about their experiences in choice making, test preference, influence of others, and possible regrets. Results. In total, 90.1% of the respondents (N = 825) indicated that pregnant women are able to choose, although 33.1% stated that the choice can best be made by a professional. 18.4% indicated that making a choice places a burden on women. In 96.4%, respondents preferred to have the option to choose again in case of a next pregnancy, whereas 2.7% preferred the choice to be made by a professional. Regret was indicated by 1.2%. Decision making was influenced by others in 64.9%. A slightly higher preference for karyotyping was indicated by 52.7% of the respondents. Conclusions. Positive attitudes and experiences were expressed towards the option to choose. Respondents took decisions freely, although sometimes influenced by a partner or a professional, to follow their individual perspectives.
Highlights
In many prenatal centres, rapid targeted tests (QFPCR: quantitative fluorescent polymerase chain reaction or MLPA: multiplex ligation-dependent probe amplification) are used for the prenatal detection of common chromosomal aneuploidies
12 out of these 38 (31.6%) responded, which is much lower than the overall response
Not all responding women answered all survey items, which resulted in a variable number of respondents per question
Summary
In many prenatal centres, rapid targeted tests (QFPCR: quantitative fluorescent polymerase chain reaction or MLPA: multiplex ligation-dependent probe amplification) are used for the prenatal detection of common chromosomal aneuploidies. Analysis of large series of prenatal samples by QFPCR or MLPA has shown that both tests, deliberately targeted to the analysis of selected chromosomes, that is, Obstetrics and Gynecology International chromosomes 13, 18, and 21 with or without inclusion of the sex chromosomes, allow the detection of the vast majority of chromosome abnormalities in prenatal samples [3,4,5,6,7,8,9]. The application of such targeted tests as stand-alone tests is still strongly debated in various countries, and different approaches are presently applied. The question remains: what is the patients’ experience?
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