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https://www.worldscientific.com/doi/epdf/10.1142/S2661318221720014?fbclid=IwAR3-Bmou82BgYJJPKck8CG1ubRusuRJ-MDa33SkTrpw6f9leA0l-tI6BwiM

Healthy Genetically Normal Live-Birth After Mosaic Chromosome 5 Embryo Transfer: A Case Report

Tam M. Luu, Nhung C. Nguyen, Cam T. Tran, Anh H. Le, Bao G. Huynh, Tuong M. Ho
IVFMD, My Duc Hospital, 4 Nui anh, Tan Binh District, Ho Chi Minh City, Vietnam
HOPE Research Center, 4 Nui anh, Tan Binh District, Ho Chi Minh City, Vietnam
Abstract

Embryonic mosaicism is defined as two or more distinct cell lines within an embryo, which is originally developed from a zygote. Although the potential of mosaic embryos still remain unclear, recent reports have proved that mosaic embryo transfer can achieve healthy live-births. Up to now, there is no report of a live-birth having mosaic trisomy of full chromosome 5 following in-vitro fertilization (IVF). Our case is the first case proving that the transfer of medium-mosaicism embryo can result in a healthy live-birth.The couple are both carriers of balanced reciprocal translocations (46,XX,t(2;8)(p23;q24.3) and 46,XY,t(12;16)(q13.2;q23)). They had three IVF cycles combined with PGT-SR (Preimplantation Genetic Testing for Structural Rearrangement). A total of 18 blastocysts were biopsied and no euploid embryo was found. After the conselling, the patients chose to transfer a 40% mosaic trisomy chromosome 5 embryo. The follow-up pregnancy including prenatal diagnosis, amniocentesis and peripheral blood chromosome analysis of the newborn revealed no trisomy chromosome 5.

KEYWORDS:

Preimplantation Genetic Testing for Structural Rearrangement (PGT-SR); Balanced Translocations; Mosaicism Embryo Transfer; Trisomy Chromosome 5

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