Emerging technologies for prenatal diagnosis: The application of whole genome and RNA sequencing

Abstract DNA sequencing technologies for clinical genetic testing have been rapidly evolving in recent years, and steadily become more important within the field of prenatal diagnostics. This review aims to give an overview of recent developments and to describe how they have the potential to fill the gaps of the currently clinically implemented methods for prenatal diagnosis of various genetic disorders. It has been shown for postnatal testing that whole genome sequencing provides a set of added benefits compared to exome sequencing, and it is to be expected that this will be the case for prenatal testing as well. RNA‐sequencing, already used postnatally, can provide valuable complementary data to DNA‐based testing, and aid in variant interpretation. While not ready for clinical implementation, emerging technologies such as long‐read and Hi‐C sequencing analyses might add to the toolbox for interpreting the expanding genetic data sets generated by genome‐wide sequencing. Lastly, we also discuss some more practical implications of introducing these emerging technologies, which generate larger and larger genomic data sets, in the prenatal field.