Mosaic embryo transfer: a cautionary tale

Franasiak, Jason M.

doi:10.1016/j.xfre.2022.07.005

Cited by 3 publications

(2 citation statements)

References 5 publications

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“…The majority of the experts agree that MET should only be performed in situations in which no euploid embryos are available for transfer, and after thorough discussions with the family about the implications of the procedure and alternative options. Moreover, MET should be followed by comprehensive genetic counseling, emphasizing on prenatal diagnostic testing, in order to prepare and enlighten the family on potential future outcomes ( Franasiak, 2022 ; Surrey, 2021 ). In the reported case, considering the advanced maternal age and male infertility, and the fact that after two IVF cycles only aneuploid or mosaic embryos were available for transfer, MET was performed.…”

Section: Discussionmentioning

confidence: 99%

Birth after low-level +20 Aneuploid Mosaic Embryo Transfer: A Case Report

Hentschke,

Petzold,

Badalotti-Teloken

et al. 2024

JBRA

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Objective Recently, it has been discussed whether or not mosaic embryo transfers should be performed since they might result in viable pregnancies, although they often end up being discarded. We report a case of successful pregnancy, after a mosaic embryo transfer from an in vitro matured egg and frozen PESA sperm. Case Description Tests performed on a female aged 40 years and a male aged 37 years seeking fertility treatment found she had an adequate ovarian reserve and patent fallopian tubes. He had a history of cryptorchidism and inguinal hernia repair. The spermogram showed azoospermia, and testicular ultrasound showed an atrophic left testicle and a normal right testis. The vas deferens was palpated during physical examination. Intracytoplasmic sperm injection with percutaneous epididymal sperm aspiration (PESA) was indicated. Two cycles of IVF after controlled ovarian stimulation with follitropin delta was performed. In the first cycle, seven mature eggs were inseminated, two fertilized normally, resulting in one blastocyst biopsied and analyzed by NGS with complex aneuploid results. In the second cycle, frozen sperm from PESA was used. Three eggs were inseminated on the day of the procedure (resulting in 2 blastocysts), and three in vitro matured eggs were inseminated after 24 hours (resulting in 1 blastocyst). NGS analysis showed two complex aneuploid embryos and one 40% low-level trisomy 20 aneuploid mosaicism (+20) for the post 24-hour embryo. A mosaic embryo transfer was performed, resulting in clinical pregnancy and birth of a healthy baby girl with a normal blood karyotype. Discussion Mosaic embryo transfer is a topic for discussion. Certain levels of mosaicism do not seem to pose risks to the development of the fetus.

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Section: Discussionmentioning

confidence: 99%

Birth after low-level +20 Aneuploid Mosaic Embryo Transfer: A Case Report

Hentschke,

Petzold,

Badalotti-Teloken

et al. 2024

JBRA

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“…Besides, the limited number of biopsied TE cells, which originate from extraembryonic lineage, may not be representative of the whole embryo or even the whole TE itself [ 38 ]. Although many reports of mosaic embryo transfer have shown apparently healthy live births, a few cases regarding the risk of live birth caused by the genetic abnormality have also been reported [ 39 – 42 ]. Combining conclusions from those studies suggested that we should take an optimistic, but cautious attitude towards the mosaic embryo transfer.…”

Section: Discussionmentioning

confidence: 99%

A healthy live birth after mosaic blastocyst transfer in preimplantation genetic testing for GATA1-related cytopenia combined with HLA matching

Xu,

Pu,

et al. 2024

BMC Med Genomics

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Background GATA1-related cytopenia (GRC) is characterized by thrombocytopaenia and/or anaemia ranging from mild to severe. Haematopoietic stem cell transplantation (HSCT) is a healing therapeutic choice for GRC patients. We identified a novel pathogenic variant (GATA1: c.1019delG) in a boy with GATA1-related cytopenia. Then we performed preimplantation genetic testing (PGT) in this GRC family. After a mosaic embryo transfered, a healthy and HLA-compatible with the proband baby was delivered. Case presentation The proband is a 6-year-old boy who was diagnosed to have transfusion-dependent anaemia since 3 year old. Whole-exome sequencing (WES) showed that the proband has a hemizygous variant c.1019delG in GATA1, which is inherited from his mother. His parents decided to undergo PGT to have a health and HLA-compatible offspring. After whole genome amplification (WGA) of biopsied trophectoderm (TE) cells, next generation sequencing (NGS)-based PGT was preformed to analyse embryos on chromosomal aneuploidy, target mutation and HLA typing. There were 3 embryos HLA-matched to the proband. The genotypes of the 3 embryos were heterozygous variant, hemizygous variant, normal respectively. After a heterozygous, mosaic partial trisomy (chr)16, and HLA-matched embryo transfer, a healthy baby was delivered and whose HSCT is compatible with the proband. Conclusions NGS-based PGT-HLA is a valuable procedure for the treatment of GATA1-related cytopenia caused by GATA1 variants, or other haematological disorders, oncological and immunological diseases. Furthermore, our study reconfirms that mosaic embryos transfer would bring healthy offspring.

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