Embryo Assessment: Preimplantation Genetic Testing (PGT)
摘要
Preimplantation Genetic Testing (PGT) has revolutionized reproductive medicine, allowing improvements in pregnancy outcomes, with the ultimate goal of having a healthy baby. Trophectoderm biopsy (TE)-based PGT continues to increase its presence worldwide due to the ever-growing number of IVF cycles, and the new approaches for analysis, such as next-generation sequencing (NGS). PGT for aneuploidy screening (PGT-A) remains the most commonly performed type of PGT. This can be offered as a standalone test or in combination with other PGT types, such as PGT-M (indicated for the identification and diagnosis of monogenic disorders in the embryo), PGT-SR (indicated for couples with a known structural rearrangement), and more recently, PGT-P which aims to reduce the risk of polygenic disorders. Nevertheless, some controversy regarding mosaic results in PGT-A remains, and PGT-P has introduced more controversy related to ethics and clinical benefit for patients. On the other hand, the progressive incorporation of more in-depth DNA analysis combined with new biomarkers for embryo selection can pave the way for further improvements in the field. Research innovations in embryonic cell-free DNA in culture medium are leading to the transition towards non-invasive approaches for the genetic assessment of preimplantation embryos.