Assessing the true incidence of mosaicism in preimplantation embryos

Larger studies focused on the consequences of transferring mosaic embryos will help us to understand the risks of discarding a possibly viable embryo versus transferring one with lower implantation potential.

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Volume 107, Issue 5, Pages 1107–1112

Authors:

Maria Vera-Rodriguez, Ph.D., Carmen Rubio, Ph.D.

Abstract:

Modern technologies applied to the field of preimplantation genetic diagnosis for aneuploidy screening (PGD-A) have improved the ability to identify the presence of mosaicism. Consequently, new questions can now be addressed regarding the potential impact of embryo mosaicism on diagnosis accuracy and the feasibility of considering mosaic embryos for transfer. The frequency of chromosomal mosaicism in products of conception (POCs) of early miscarriages has been reported to be low. Mosaic embryos with an aneuploid inner cell mass are typically lost during the first trimester owing to spontaneous miscarriages. Most of the mosaics in established pregnancies would derive from placental mosaicism or placental aneuploidy, and mosaic embryos with aneuploid inner cell mass should be lost mainly due to first-trimester spontaneous miscarriages. The well described clinical outcomes of live births from mosaic embryos suggest a wide spectrum of phenotypes, from healthy to severely impaired. Therefore, there is a need to balance the risks of discarding a possibly viable embryo with that of transferring an embryo that may ultimately have a lower implantation potential.


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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. The journal publishes juried original scientific articles in clinical and laboratory research relevant to reproductive endocrinology, urology, andrology, physiology, immunology, genetics, contraception, and menopause. Fertility and Sterility® encourages and supports meaningful basic and clinical research, and facilitates and promotes excellence in professional education, in the field of reproductive medicine.

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