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Duchenne muscular dystrophy and reproductive decision-making : implications of newborn screening

Lloyd, Amy 2009. Duchenne muscular dystrophy and reproductive decision-making : implications of newborn screening. PhD Thesis, Cardiff University.

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Newborn screening programmes once focused on identifying treatable conditions. In recent years, increasing numbers of untreatable genetic conditions have been included in newborn screening programmes, on the premise that families will benefit from the provision of information, support and reproductive choice. However, there is a paucity of research documenting families' experiences of newborn screening and the implications of screening for untreatable conditions. This study focuses on one untreatable condition, Duchenne muscular dystrophy (DMD). Using both quantitative and qualitative methods, this study explores the implications of two different diagnostic pathways for reproductive decision-making newborn screening and a later clinical diagnosis (which occurs when the child is an average age of 4.5 years). Quantitative data on reproductive behaviour were collected from 72 families 38 families who received a later clinical diagnosis (LCD) in the west of Scotland, and 34 families in Wales, who received a diagnosis through newborn screening (NBS), between 1990 and 2006. Qualitative data (in-depth interviews) were collected from a subset of 19 families to explore reproductive decision-making 8 families from the LCD cohort, and 11 families from the NBS cohort. The quantitative data highlighted varied effects of providing families with an earlier awareness of risk. Families in the newborn screening cohort were more likely to continue family building, and significantly more likely to use prenatal testing (p=0.05). However, there was no association between carrier risk and reproductive behaviour and little difference in the number of second affected boys. Participants in the qualitative interviews were often ambivalent about the provision of reproductive choice. Mothers' descriptions of the importance of "choice" were juxtaposed against accounts of "ignorant bliss", profound appreciation of the "carefree years", and relief at the avoidance of "difficult decisions". The medical information provided to families was often perceived to lack experiential validity. In addition, few families felt supported. The findings suggest a need for greater consideration of the true value of providing information, "choice" and support.

Item Type: Thesis (PhD)
Status: Unpublished
Schools: Medicine
ISBN: 9781303191664
Date of First Compliant Deposit: 30 March 2016
Last Modified: 02 Oct 2014 14:00

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