Risk factors related to chromosomal mosaicism in human blastocysts

Ai, Xixiong; Shi, You; Liu, Lok-Wan; Xu, Yan; Zhang, Han; Liu, Yi; Wang, Jing; Ding, Chenhui; Cai, Bing; Zhou, Canquan; Xu, Yaowu

doi:10.1016/j.rbmo.2022.02.016

Cited by 8 publications

(4 citation statements)

References 39 publications

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“…Our findings did not show significant associations for other factors such as BMI, AMH levels, or blood types. Moreover, embryo quality, while not significantly associated with mosaicism in our study, has been debated in the literature, with a report indicating that poor-quality embryos may increase the incidence of mosaicism [ 11 ].…”

Section: Discussionmentioning

confidence: 62%

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Factors Associated With Mosaicism in Human Embryos: A Retrospective Study

Nguyen,

Tran,

et al. 2024

Cureus

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Objective This study aims to identify factors associated with mosaicism in human embryos at Hung Vuong Hospital. Methods We performed a retrospective analysis of data from 2018 to 2022, approved by the Hung Vuong Hospital Ethics Committee (CS/HV/23/15). We analyzed variables such as demographic characteristics, clinical measurements, and in-vitro fertilization (IVF) cycle outcomes to investigate their relationship with embryo mosaicism. Results A total of 73 couples undergoing IVF with preimplantation genetic testing (PGT) were included in the analysis. Among 308 embryos, 98 (31.8%) were mosaic, 124 (40.3%) were euploid, and 86 (27.9%) were aneuploid. Univariable analysis revealed that female age was significantly associated with increased odds of mosaicism (odd ratio (OR) = 1.11, 95% confidence interval (CI): 1.04 - 1.19, p = 0.003). Male age demonstrated a marginal association with mosaicism (OR = 1.05, 95% CI: 1.00 - 1.11, p = 0.07). Other factors, including body mass index (BMI), anti-Mullerian hormone (AMH) levels, blood types, and sperm quality, were not significantly associated with mosaicism. In the multivariable analysis, controlling for both female and male age, female age showed a trend toward significance (OR = 1.12, 95% CI: 1.02 - 1.23, p = 0.02), while male age showed no significant effect (OR = 0.99, 95% CI: 0.92 - 1.06, p = 0.75). Conclusions The findings suggest that female age is a critical factor influencing the occurrence of mosaicism in embryos. Further research is needed to fully understand the mechanisms underlying mosaicism in human embryos.

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Section: Discussionmentioning

confidence: 62%

“…Additionally, paternal age or male factors have been linked to mosaicism in embryos [ 10 ]. Poor-quality embryos or those developing slowly are more likely to exhibit mosaicism [ 11 ]. Furthermore, studies have shown associations between mosaicism and semen quality, fertilization methods, and biopsy protocols [ 12 , 13 ].…”

Section: Introductionmentioning

confidence: 99%

Factors Associated With Mosaicism in Human Embryos: A Retrospective Study

Nguyen,

Tran,

et al. 2024

Cureus

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“…Our findings agree with prior studies that observed few differences in mosaicism rates across US clinics ( 21 , 22 ). However, some previous studies have demonstrated higher mosaicism rates in certain laboratories, which may be attributable to a specific laboratory environment, embryologist technique, or embryo quality ( 23 , 24 ). Rather than a true biological phenomenon, mosaic embryos may represent ultimately the limitations of our NGS testing, as several studies have shown that mosaic embryos have equivalent live birth rates to euploid embryos ( 13 , 25 ).…”

Section: Discussionmentioning

confidence: 95%

The nature of embryonic mosaicism across female age spectrum: an analysis of 21,345 preimplantation genetic testing for aneuploidy cycles

Armstrong¹,

Kroener²,

Miller³

et al. 2023

F&S Reports

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“…Some factors, such as slow developing, poor-quality blastocysts, semen quality, paternal age might increase the incidence of mosaicism. Different biopsy protocols may also have an impact on the mosaic blastocyst rate [ 28 – 31 ]. Since the first successful pregnancies after transfer of mosaic embryos reported by Greco et al [ 32 ], the scientific community has aroused great interest in the clinical outcome of 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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Risk factors related to chromosomal mosaicism in human blastocysts

Cited by 8 publications

References 39 publications

Factors Associated With Mosaicism in Human Embryos: A Retrospective Study

Factors Associated With Mosaicism in Human Embryos: A Retrospective Study

The nature of embryonic mosaicism across female age spectrum: an analysis of 21,345 preimplantation genetic testing for aneuploidy cycles

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

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