Healthy live births from transfer of low-mosaicism embryos after preimplantation genetic testing for aneuploidy

Lee, Chun‐I; Cheng, En‐Hui; Lee, Maw‐Sheng; Lin, Pin‐Yao; Chen, Yi‐Chun; Chen, Chien‐Hong; Huang, Lii-Shung; Huang, Chun‐Chia; Lee, Tsung-Hsien

doi:10.1007/s10815-020-01876-6

Cited by 32 publications

(18 citation statements)

References 38 publications

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“…In 2015, Greco et al reported for the first time that transferring mosaic embryos could result in live births [ 5 ], and this phenomenon has been confirmed in subsequent studies [ 16 ]. Recent studies have reported that mosaic embryos can develop into healthy babies with a completely normal karyotype [ 6 , 7 ], which supports the ability of mosaic embryos to show a certain degree of self-correction [ 17 ]. However, in comparison with the outcomes of euploid embryo transfer, the implantation rate of mosaic embryos transfer was significantly lower (30.1 vs 55.8%) and the miscarriage rate was significantly higher (55.6% vs 17.2%) [ 18 ].…”

Section: Discussionmentioning

confidence: 86%

“…As the third type of embryo, other than euploid and aneuploid embryos, the transfer of mosaic embryos into the uterus as well as the risks associated with transfer have increasingly attracted the attention of clinicians and patients undergoing PGT-A cycles. At present, there is increasing evidence suggesting that mosaic embryos have definite reproductive potential and can result in healthy live births after transfer [ 4 – 7 ]. However, in comparison with euploid embryos, mosaic embryos lead to a higher miscarriage rate and poorer clinical outcomes [ 8 ].…”

Section: Introductionmentioning

confidence: 99%

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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

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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.

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Section: Discussionmentioning

confidence: 86%

Section: Introductionmentioning

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

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“…Some studies found that low-level mosaicism was related to improvement in ongoing pregnancy rates [38], while others did not find statistically significant results [40,42,43]. Embryos with low-level mosaicism are more likely to develop into healthy babies than high-level mosaic embryos, whereas high-level mosaic embryos increase the risk of miscarriage [35,38,41,44]. A recent prospective study found that embryos with more than 50% mosaicism have a significantly lower implantation rate (24.4% vs. 54.6%; p < 0.002), clinical pregnancy rate (15.2% vs. 46.4%; p < 0.001), and live birth rate (15.2% vs. 46.6%; p < 0.001) compared to euploid embryos in the NGS profile [38].…”

Section: The Degree Of Mosaicismmentioning

confidence: 99%

Preimplantation genetic testing for aneuploidy: The management of mosaic embryos

Kim

Park

et al. 2022

Clin Exp Reprod Med

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As the resolution and accuracy of diagnostic techniques for preimplantation genetic testing for aneuploidy (PGT-A) are improving, more mosaic embryos are being identified. Several studies have provided evidence that mosaic embryos have reproductive potential for implantation and healthy live birth. Notably, mosaic embryos with less than 50% aneuploidy have yielded a live birth rate similar to euploid embryos. This concept has led to a major shift in current PGT-A practice, but further evidence and theoretically relevant data are required. Proper guidelines for selecting mosaic embryos suitable for transfer will reduce the number of discarded embryos and increase the chances of successful embryo transfer. We present an updated review of clinical outcomes and practice recommendations for the transfer of mosaic embryos using PGT-A.

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“…The ongoing pregnancy rate was even lower with transfer of complex mosaic embryos at 9% [ 15 ]. Most studies comparing clinical outcomes after transfer of mosaic embryos with segmental mosaicism and those with single whole chromosome mosaicism did not find a significant difference [ 15 , 30 , 41 , 42 ]. Table 1 summarizes clinical outcomes after transfer of mosaic embryos including various subtypes.…”

Section: Considerations When Transferring Mosaic Embryosmentioning

confidence: 99%

Pregnancy and Neonatal Outcomes after Transfer of Mosaic Embryos: A Review

Abhari

Kawwass

2021

JCM

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Preimplantation genetic testing for aneuploidy (PGT-A) seeks to identify embryos with a normal chromosome complement during in vitro fertilization (IVF). Transfer of one euploid embryo at a time maximizes the chance of implantation while minimizing the risk of multiple pregnancy. The emergence of new technologies including next generation sequencing (NGS) has led to increased diagnosis of embryonic mosaicism, suggesting the presence of karyotypically distinct cells within a single trophectoderm (TE). Clinical implications of embryonic mosaicism are important in both naturally conceived and IVF pregnancies. Although information regarding outcomes after mosaic embryo transfer (MET) is limited, more than 100 live births have now been documented with rather reassuring outcomes with no abnormal phenotype. Here, we aim to provide a summary of recent data regarding clinical and neonatal outcomes after transfer of mosaic embryos in IVF/PGT-A cycles.

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Healthy live births from transfer of low-mosaicism embryos after preimplantation genetic testing for aneuploidy

Cited by 32 publications

References 38 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

Preimplantation genetic testing for aneuploidy: The management of mosaic embryos

Pregnancy and Neonatal Outcomes after Transfer of Mosaic Embryos: A Review

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