Preimplantation genetic diagnosis of hereditary hearing loss: a narrative review

Abstract

Preimplantation genetic diagnosis (PGD) uses molecular biological techniques to genetically diagnose embryos before in vitro fertilization. The information obtained through PGD can help clinicians select healthy embryos for implantation, prevent the transmission of inherited diseases and help affected families have healthy children. This paper reviews the development of PGD technology, the history of its application to hereditary hearing loss, and the general process of how PGD is applied to screen for hereditary hearing loss. The aim of this review is to demonstrate the reliability of PGD in the primary prevention of hereditary hearing loss, assist clinicians in counseling patients at risk of transmitting an inherited disease, and explore the journey from PGD to in vitro fertilization. Given that the application of PGD technology to hereditary hearing loss varies in different countries and regions, there is still a long way to go before PGD is routinely applied for the primary prevention of hereditary hearing loss.