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

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