Abstract
This report considers a number of rapidly evolving genetic technologies that a woman may be offered, either during pregnancy or regarding embryos created by IVF (in-vitro fertilisation), including:
• Non-invasive prenatal testing (NIPT), which enables foetal information to be gleaned from a maternal blood test as early as 10 weeks into pregnancy;
• Chromosomal microarray testing that may be performed at about 18 weeks following invasive amniocentesis;
• Preimplantation genetic testing of IVF embryos involving the latest high-resolution, next generation sequencing.
The report is set out in two parts. Part I considers genomic testing in the general population, and considers the paediatric population separately, while Part II specifcally focuses on the reproductive realm. Chapter 1 provides a brief outline of the relevant science and various genetic/genomic tests, before examining a signifcant issue associated with the introduction of whole genome sequencing, which is the discovery of incidental fndings. Chapter 2 outlines the development of genetic and genomic testing in the paediatric context and reviews the social science literature regarding the clinical and ethical implications of genetic testing for children and parents. Chapter 3 canvasses the clinical, ethical and legal implications of the rapidly developing technology of noninvasive prenatal testing (NIPT), while Chapters 4 and 5 consider developing genomic tests in invasive prenatal diagnosis, and in the preimplantation, context respectively.