Preimplantation genetic testing for aneuploidy: The management of mosaic embryos

Clin Exp Reprod Med. 2022 Sep;49(3):159-167. doi: 10.5653/cerm.2022.05393. Epub 2022 Aug 31.

Abstract

As the resolution and accuracy of diagnostic techniques for preimplantation genetic testing for aneuploidy (PGT-A) are improving, more mosaic embryos are being identified. Several studies have provided evidence that mosaic embryos have reproductive potential for implantation and healthy live birth. Notably, mosaic embryos with less than 50% aneuploidy have yielded a live birth rate similar to euploid embryos. This concept has led to a major shift in current PGT-A practice, but further evidence and theoretically relevant data are required. Proper guidelines for selecting mosaic embryos suitable for transfer will reduce the number of discarded embryos and increase the chances of successful embryo transfer. We present an updated review of clinical outcomes and practice recommendations for the transfer of mosaic embryos using PGT-A.

Keywords: Embryo transfer; Mosaicism; Preimplantation genetic testing.