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Non-invasive prenatal diagnosis (NIPD) will offer new options in prenatal diagnosis for carriers of single gene disorders. This will affect carrier couples and health professionals involved in prenatal care. The aim of this study was to determine health professional opinions on NIPD for single gene disorders to guide development of infrastructure required(More)
OBJECTIVES Fetal sex determination is performed for women who carry X-linked conditions, for example Duchenne muscular dystrophy (DMD), or those associated with ambiguous genitalia, for example congenital adrenal hyperplasia (CAH). Non-invasive prenatal diagnosis (NIPD) using cell-free fetal DNA (cffDNA) in maternal plasma is an alternative to invasive(More)
Non-invasive prenatal testing (NIPT) using cell-free DNA for aneuploidy is a highly accurate screening test; however, concerns exist around the potential for routinisation of testing. The multidimensional measure of informed choice (MMIC) is a quantitative instrument developed to assess informed choice for Down syndrome screening (DSS). We have validated a(More)
Non-invasive prenatal testing (NIPT) for aneuploidy is currently only available in the UK through the private sector outside of the research arena. As part of an implementation study in the UK National Health Service we conducted a mixed methods study to assess women's experience of being offered NIPT using validated measures of decisional conflict,(More)
For over a decade, researchers have focused their attention on the development of non-invasive prenatal diagnosis tests based on cell-free fetal DNA circulating in maternal blood. With the possibility of earlier and safer testing, non-invasive prenatal diagnosis has the potential to bring many positive benefits to prenatal diagnosis. Non-invasive prenatal(More)
Recently, we have witnessed the rapid translation into clinical practice of non-invasive prenatal testing for the common aneuploidies, most notably within the United States and China. This represents a lucrative market with testing being driven by companies developing and offering their services. These tests are currently aimed at women with(More)
OBJECTIVE The aim of this study was to determine service users' experiences of and preferences for service delivery of fetal sex determination by noninvasive prenatal diagnosis (NIPD) using cell-free fetal DNA. METHODS We used a qualitative approach using semistructured interviews. Thirty-eight women and six of their partners were recruited. RESULTS(More)
Prenatal fetal sex determination is clinically indicated for women who are at risk of having a child with a serious genetic disorder affecting a particular sex. Ultrasound has been the traditional method used, but early fetal sex determination using non-invasive prenatal diagnosis (NIPD) can now be performed using cell-free fetal DNA in maternal plasma. The(More)
PURPOSE To compare the preferences of women and health professionals for key attributes of noninvasive prenatal diagnosis for Down syndrome relative to current invasive tests. METHODS A questionnaire incorporating a discrete choice experiment was used to obtain participants' stated preference for diagnostic tests that varied according to four attributes:(More)