Preimplantation genetic screening (PGS) or preimplantation genetic diagnosis (PGD) has been suggested to be able to be used in IVF to select an embryo that appears to have the greatest chances for successful pregnancy. However, a systematic review and meta-analysis of existing randomised controlled trials came to the result that there is no evidence of a beneficial effect of PGS with cleavage-stage biopsy as measured by live birth rate. On the contrary, for those of advanced maternal age, PGS with cleavage-stage biopsy significantly lowers the live birth rate. Technical drawbacks, such as the invasiveness of the biopsy, and non-representative samples because of mosaicism are the major underlying factors for inefficacy of PGS.
Still, as an expansion of IVF, patients who can benefit from PGS/PGD include:
* Those who have a family history of inherited disease
* Those who want prenatal sex discernment. This can be used to diagnose monogenic disorders with sex linkage. It can potentially be used for sex selection, wherein a fetus is aborted if having an undesired sex.
* Those who already have a child with an incurable disease and need compatible cells from a second healthy child to cure the first, resulting in a "saviour sibling" that matches the sick child in HLA type.
PGS screens for numeral chromosomal abnormalities while PGD diagnosis the specific molecular defect of the inherited disease. In both PGS and PGD, individual cells from a pre-embryo, or preferably trophectoderm cells biopsied from a blastocyst, are analysed during the IVF process. Before the transfer of a pre-embryo back to a person's uterus, one or two cells are removed from the pre-embryos (8-cell stage), or preferably from a blastocyst. These cells are then evaluated for normality. Typically within one to two days, following completion of the evaluation, only the normal pre-embryos are transferred back to the uterus.  Alternatively, a blastocyst can be cryopreserved via vitrification and transferred at a later date to the uterus. In addition, PGS can significantly reduce the risk of multiple pregnancies because fewer embryos, ideally just one, are needed for implantation.