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VOLUME 4 , ISSUE 2 ( July-December, 2020 ) > List of Articles


Transferring Mosaic Embryos during ART Cycles: Increasing the Load of Genetic Diseases in Human Generations—A Critical Analysis

Simranpreet Kaur, Inder MS Sandhu, Madhu Nagpal

Keywords : Intracytoplasmic sperm injection, Mosaic embryos, Mosaicism, Preimplantation genetic testing,Genetic load

Citation Information : Kaur S, Sandhu IM, Nagpal M. Transferring Mosaic Embryos during ART Cycles: Increasing the Load of Genetic Diseases in Human Generations—A Critical Analysis. Curr Trends Diagn Treat 2020; 4 (2):112-116.

DOI: 10.5005/jp-journals-10055-0100

License: CC BY-NC 4.0

Published Online: 22-03-2021

Copyright Statement:  Copyright © 2020; Jaypee Brothers Medical Publishers (P) Ltd.


“Mosaic” as an adjective describes any type of work or art which is produced by joining of many small pieces differing in size and color. Virtually all multicellular organisms are mosaics of cells with different forms and functions. Normal developmentally determined mosaicism involves permanent changes in the DNA of somatic cells giving rise to specialized cells of various organ systems of the body. Several mechanisms, such as cell cycle dysregulation, centrosome overduplication, and cancer formation, have been reported as end products of mosaicism, either chromosomal or germline, arisen prenatally or postnatally, in many cases. There is an extensive literature present which describes the presence of genetic mosaicism in human diseases. With the development of more advanced molecular genetic diagnostic techniques, it has been recognized that genetic mosaicism is involved in many monogenic and polygenic complex diseases. This review highlights the dilemma between the creation and transferring of the mosaic embryos detected by preimplantation genetic diagnosis aneuploidy testing during assisted reproductive technology cycles. The main question of concern is not only the implantation potential of the accepted mosaic embryos but also the well-being of future generations to follow from these phenotypically normal mosaic individuals.

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