15 - New advances in prenatal genetic testing: the parent perspective

Summary

Introduction

Antenatal Results and Choices (ARC), which was established in 1988, is the only UK charity providing non-directive information and specialised support to parents before, during and after antenatal testing and when an abnormality is diagnosed in an unborn baby. Continuing support is offered for as long as required, whatever decision is made about the future of the pregnancy. ARC also runs a well-established training programme for healthcare professionals in communication skills, breaking bad news and supporting parent decision making, all in the context of antenatal testing

For more than 20 years, ARC's core support service has been its national helpline. We take calls from across the UK on all aspects of antenatal testing and its aftermath. This chapter will use ARC's extensive experience with expectant parents to explore the potential implications for them of new techniques in prenatal genetic testing, particularly advances in non-invasive prenatal diagnosis (NIPD).

Throughout the chapter I will refer to women and their partners as parents and the fetus as a baby, as this is how the vast majority of callers to ARC conceptualise themselves and their fetus from the earliest stages of the pregnancy.

ARC's contact with parents making decisions about invasive diagnostic tests

By far the most common call on the ARC helpline is from parents after a screening result or ultrasound finding, when they are deciding whether to have a diagnostic procedure, either chorionic villus sampling (CVS) or amniocentesis. Approximately half of all helpline contacts by phone or email are of this kind.