Overcoming Challenges in Reproductive Health Applications by Deploying More Sensitive and Accurate Molecular Technologies

Abstract

The field of reproductive health is progressing rapidly from traditional non-molecular technologies based on visual microscope-based techniques to the latest molecular technologies, that are more accurate, objective, and efficient, and some of which are less invasive. Genome-wide technologies have been applied at different stages of the reproductive health lifecycle, such as preimplantation genetic testing, prenatal and postnatal testing, and preconception carrier screening. Next-generation sequencing is currently the platform of choice when it comes to preimplantation genetic testing, and analysis using cell-free DNA offers a potential non-invasive alternative to current methods. Molecular tests of endometrial receptivity identify the optimum timing for embryo implantation, thereby improving in vitro fertilisation (IVF) success rates for patients with recurrent implantation failure of endometrial origin. In the prenatal and postnatal settings, new technologies, such as microarrays and next-generation sequencing, have increased the diagnostic yield and fuelled the rate of discovery of new genetic syndromes. Expanded carrier screening panels have replaced multiple single-gene tests with a single assay and have been shown to be more effective at identifying carriers of genetic disorders. These innovations are accompanied by new challenges regarding their implementation and use. Patient access to new technologies varies greatly and several factors have been identified as barriers to uptake. Genetic counselling has become increasingly important as the amount of genetic information provided by these technologies continues to rise. This review discusses specific challenges associated with traditional non-molecular and older-generation molecular techniques in reproductive health, and suggests potential solutions provided by recent advances in genetic technologies.