Evidence-based management of preimplantation chromosomal mosaicism: lessons from the clinic

Clinical policies and patient counseling for mosaicism should reflect current data. While mosaic embryos may have reduced reproductive potential, there is no evidence of increased risk for ongoing pregnancies.

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VOLUME 116, ISSUE 5, P1220-1224

Authors:

Andria G. Besser, M.S., Emily L. Mounts, M.S., James A. Grifo, M.D., Ph.D.

Abstract:

Mosaic results obtained through preimplantation genetic testing for aneuploidy pose ongoing challenges to clinical practice. Thorough genetic counseling for patients considering mosaic embryo transfer is consistently recommended by many best-practice statements, and providers are charged with the task of assessing and explaining potential prenatal, neonatal, and long-term risks. However, an increasing amount of outcome data from transferred embryos with mosaic results do not show any evidence of increased risk to ongoing pregnancies or newborns. This article examines how to reconcile these data with the current practices for patient education about preimplantation genetic testing for aneuploidy and mosaic embryo risk assessment, through an evidence-based lens.

Fertility and Sterility

Editorial Office, American Society for Reproductive Medicine

Fertility and Sterility® is an international journal for obstetricians, gynecologists, reproductive endocrinologists, urologists, basic scientists and others who treat and investigate problems of infertility and human reproductive disorders.