Introduction: Newly developed non-invasive prenatal diagnostic techniques, using maternal blood samples, have the potential to reduce or obviate the need for invasive prenatal diagnostic practices such as amniocentesis or chorionic villous sampling. This will lead to a change in how obstetric care is extended by health care providers to pregnant women at-risk of bearing an aneuploid child.
Areas covered: The process leading to the development of fetal aneuploidy detection via the analysis of cell-free DNA in maternal plasma by massive parallel sequencing. Optimization of these strategies and approaches used in the recent or up-coming commercial launches. In addition, this review provides insight into legal implications, potential patent disputes, ethical and societal concerns raised by this development, such as whole genome data storage, retrieval and access.
Expert opinion: There is a need for engagement by professional societies, to ensure correct usage of these newly emerging technologies and their restriction to high-risk pregnancies. National agencies need to ensure the necessary degree of high quality required for prenatal diagnosis.