Families' Experiences of Genetic Testing for Down Syndrome

Genetic testing for Down syndrome (a condition associated with certain health risks and some degree of learning disability) has been in place for over four decades. Prospective parents are offered screening and, if deemed 'higher risk,' subsequent diagnostic tests to determine whether a foetus has the condition. Diagnostic tests are invasive - requiring collection of cells from the uterus and thus involving some risk to the pregnancy. Recent advances in testing methods, using foetal DNA found in maternal blood, represent a substantial increase in the accuracy of screening tests. This may lead to a reduction in the number of invasive diagnostic tests that are carried out. As Non-Invasive Pre-Natal Testing, or NIPT, becomes more widely available in the UK and internationally, more expectant parents will have access to this more accurate screening strategy and the choices this involves.

There have been concerns raised - based on evidence from family-led organisations - that clear, balanced information is not consistently provided to inform prospective parents' decisions. NIPT was subject to a Nuffield Council for Bioethics review published in March 2017. NIPT is currently being piloted within the NHS in England, for Down syndrome and other genetic conditions; thus research in this field is very timely.

This project will contribute high-quality research evidence to the national and international discourse around NIPT, focusing on the experiences and perceptions of parents/prospective parents of the testing process for Down syndrome, and considering how support might be improved. The methodology will involve a rigorous synthesis of existing evidence and new data collection on current experiences of UK families.

Evidence synthesis methods:

1. A systematic review and meta-synthesis of international studies of parents' experiences and perceptions of testing for Down syndrome, including both qualitative and quantitative studies synthesised using narrative synthesis, meta-analysis and meta-ethnography methods.

2. A systematic review and meta-analysis of international studies exploring psychological well-being among parents of children with Down syndrome, alongside a synthesis of qualitative studies of parents' experiences of raising a child with Down syndrome. If data are available, state-of-the-art higher-level synthesis methods will be used, including meta-regression and ethnographic qualitative synthesis.

A protocol for each review will be registered on PROSPERO (the international prospective register of systematic reviews).

Survey methods

Down Syndrome UK (DSUK) have recently surveyed UK parents of a child with Down syndrome, using the data to inform their campaign to improve information available to parents going through the genetic testing process. We will re-design the survey in collaboration with DSUK, producing versions to explore the experiences both of 500+ parents of young children with Down syndrome (1-2 years of age), and of 200+ families who had a genetic test but did not have a child with Down syndrome (either due to termination or a negative test result). We will work to include different cultural, religious and socio-economic sub-groups. The anonymous surveys will focus on parents' experiences of the genetic testing pathway, including, but not necessarily limited to: how testing was introduced, information provided, professional support, whether genetic counselling was offered, broader family and societal responses and attitudes, and parents' well-being.

Each survey will be repeated and extended after 12-18 months, to begin to follow cohorts of families experiencing the Down syndrome genetic testing pathways in the NHS.