What are patients doing with their mosaic embryos? Decision making after genetic counseling

Besser, Andria G.; McCulloh, David H.; Grifo, James A.

doi:10.1016/j.fertnstert.2018.10.001

Cited by 30 publications

(30 citation statements)

References 18 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Zore et al observed a significant decrease in live birth rates for mosaic embryo transfer (30.0% vs. 53.8%) [ 19 ]. Another study showed that among patients who had no euploid embryos, those who chose to restart an additional PGT-A cycle had a significantly higher rate of ongoing pregnancy than those who chose to transfer mosaic embryos (51.2% vs. 27.6%) [ 20 ]. Due to the undeniable implantation potential and unsatisfactory transfer outcomes of mosaic embryos, accurate detection and management of these embryos has become a major challenge for PGT-A.…”

Section: Discussionmentioning

confidence: 99%

The inconsistency between two major aneuploidy-screening platforms—single-nucleotide polymorphism array and next-generation sequencing—in the detection of embryo mosaicism

Chen

Ding

et al. 2022

BMC Genomics

View full text Add to dashboard Cite

Background In preimplantation genetic testing for aneuploidy (PGT-A), appropriate evaluation of mosaic embryos is important because of the adverse implications of transferring embryos with high-level mosaicism or discarding those with low-level mosaicism. Despite the availability of multiple reliable techniques for PGT-A, data comparing the detection of mosaicism using these techniques are scarce. To address this gap in the literature, we compared the detection ability of the two most commonly used PGT-A platforms, next-generation sequencing (NGS) and the single-nucleotide polymorphism (SNP) array, for mosaic embryos. Results We retrospectively reviewed the data of PGT-A or preimplantation genetic testing for chromosomal structural rearrangements (PGT-SR) conducted at our center from January 2018 to October 2020, and selected blastocysts that underwent aneuploidy screening with both an SNP array and NGS. Trophectoderm biopsy, multiple displacement amplification (MDA), and aneuploidy screening with an SNP array were conducted on the enrolled blastocysts. When the SNP array indicated mosaicism, NGS was performed on the corresponding MDA product for verification. Among the 105 blastocysts diagnosed with mosaicism with the SNP array, 80 (76.19%) showed mosaicism in NGS, with complete and partial concordance rates of 47.62% (50/105) and 18.10% (19/105), respectively. The complete discordance rate of the two platforms was 34.29% (36/105). That is, 10.48% (11/105) of the blastocysts were diagnosed with completely different types of mosaicism with the two platforms, while 13.33% (14/105) and 10.48% (11/105) of the embryos diagnosed as showing mosaicism with SNP were detected as showing aneuploidy and euploidy with NGS, respectively. Conclusions The consistency of NGS and the SNP array in the diagnosis of embryo mosaicism is extremely low, indicating the need for larger and well-designed studies to determine which platform is more accurate in detecting mosaic embryos.

show abstract

Section: Discussionmentioning

confidence: 99%

The inconsistency between two major aneuploidy-screening platforms—single-nucleotide polymorphism array and next-generation sequencing—in the detection of embryo mosaicism

Chen

Ding

et al. 2022

BMC Genomics

View full text Add to dashboard Cite

show abstract

“…For the 16 couples with only mosaic embryos available for transfer, it was difficult to predict potential embryonic and postnatal growth outcomes. It was reported the lower implantation potential, reduced clinical pregnancy rate, and higher spontaneous abortion rate when transferring mosaic embryos were, especially transferring the embryos with high mosaicism percentage (Besser et al, 2019; Fragouli et al, 2017). Therefore, with the couples fully informed consent, the mosaic embryos were not used for transfer and the couples continued with another PGT cycle.…”

Section: Discussionmentioning

confidence: 99%

Chromosomal analysis for embryos from balanced chromosomal rearrangement carriers using next generation sequencing

Mao

et al. 2021

Molecular Reproduction Devel

View full text Add to dashboard Cite

We aimed to use next generation sequencing (NGS) to investigate chromosomal abnormalities in blastocyst trophectoderm (TE) samples, and reproductive outcomes with the different types of chromosomal rearrangements (CR) and for each sex of CR carrier. A total of 1189 blastocyst TE samples were evaluated using NGS to detect chromosomal unbalanced translocations as well as aneuploidy, including blastocytes from 637 blastocysts from carriers of balanced CR and 552 blastocysts from carriers of normal chromosomes. The optimal embryos had lower chromosomal abnormality rates compared to the poor‐quality embryos. The experimental group had significantly reduced rates of normal embryos and euploidy, and higher rates of total abnormalities, aneuploidy and unbalanced chromosomal aberrations. Carriers of reciprocal translocations had a reduced rate of normal embryos and an increased percentage of embryos with total abnormalities and unbalanced chromosomal aberrations compared with carriers of Robertsonian translocations. Couples with female carriers of chromosomal abnormalities had significantly reduced rates of normal embryos and euploidy, and a higher percentage of embryos with total abnormalities, aneuploidy, and unbalanced chromosomal aberrations compared with couples of male carriers. Our preimplantation genetic testing (PGT) study identified higher rates of chromosomal abnormalities, including chromosomal unbalanced translocations and aneuploidy, in blastocysts from CR carriers, especially from the female carriers, in a Chinese population. The PGT cycles successfully improved clinical outcomes by increasing the fertilization rate and reducing the early spontaneous abortion rate compared with the in vitro fertilization and intracytoplasmic sperm injection cycles, especially for CR carriers.

show abstract

“…As mentioned above, transfer of mosaic blastocysts should be accompanied by patient counsel with emphasis on prenatal testing (particularly amniocentesis), because data on the exact risk to fetuses are still forthcoming [55,172]. A recent study by Besser and colleagues describing the experience in their center showed that approximately 30% of counselled patients opted for transfer of a mosaic embryo rather than pursuing an additional treatment cycle [173]. The likelihood of undergoing mosaic embryo transfer grew considerably with increasing patient age or number of prior retrievals.…”

Section: Management Of Mosaic Embryos In the Clinicmentioning

confidence: 99%

Preimplantation Genetic Testing for Chromosomal Abnormalities: Aneuploidy, Mosaicism, and Structural Rearrangements

Viotti

2020

Genes

View full text Add to dashboard Cite

There is a high incidence of chromosomal abnormalities in early human embryos, whether they are generated by natural conception or by assisted reproductive technologies (ART). Cells with chromosomal copy number deviations or chromosome structural rearrangements can compromise the viability of embryos; much of the naturally low human fecundity as well as low success rates of ART can be ascribed to these cytogenetic defects. Chromosomal anomalies are also responsible for a large proportion of miscarriages and congenital disorders. There is therefore tremendous value in methods that identify embryos containing chromosomal abnormalities before intrauterine transfer to a patient being treated for infertility—the goal being the exclusion of affected embryos in order to improve clinical outcomes. This is the rationale behind preimplantation genetic testing for aneuploidy (PGT-A) and structural rearrangements (-SR). Contemporary methods are capable of much more than detecting whole chromosome abnormalities (e.g., monosomy/trisomy). Technical enhancements and increased resolution and sensitivity permit the identification of chromosomal mosaicism (embryos containing a mix of normal and abnormal cells), as well as the detection of sub-chromosomal abnormalities such as segmental deletions and duplications. Earlier approaches to screening for chromosomal abnormalities yielded a binary result of normal versus abnormal, but the new refinements in the system call for new categories, each with specific clinical outcomes and nuances for clinical management. This review intends to give an overview of PGT-A and -SR, emphasizing recent advances and areas of active development.

show abstract

What are patients doing with their mosaic embryos? Decision making after genetic counseling

Cited by 30 publications

References 18 publications

The inconsistency between two major aneuploidy-screening platforms—single-nucleotide polymorphism array and next-generation sequencing—in the detection of embryo mosaicism

The inconsistency between two major aneuploidy-screening platforms—single-nucleotide polymorphism array and next-generation sequencing—in the detection of embryo mosaicism

Chromosomal analysis for embryos from balanced chromosomal rearrangement carriers using next generation sequencing

Preimplantation Genetic Testing for Chromosomal Abnormalities: Aneuploidy, Mosaicism, and Structural Rearrangements

Contact Info

Product

Resources

About