Improved clinical outcomes of preimplantation genetic testing for aneuploidy using MALBAC-NGS compared with MDA-SNP array

Niu, Wenbin; Wang, Linlin; Xu, Jiawei; Liu, Ying; Shi, Hao; Li, Gang; Jin, Haixia; Song, Wenyan; Wang, Fang

doi:10.1186/s12884-020-03082-9

Cited by 13 publications

(12 citation statements)

References 30 publications

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“…The cases in this article all use the SNP or NGS method, which is currently a relatively extensive method for the diagnosis of embryo chromosome abnormality ( 19 ). They can screen 23 pairs of chromosomes comprehensively, which has obvious advantages compared with FISH technique which can only carry out hybridization detection of a limited number of chromosomes ( 26 ). What is more, trophoblastic cell biopsy can not only control the damage to the embryo, but also ensure the accuracy of the sequencing results ( 27 ).…”

Section: Discussionmentioning

confidence: 99%

Effects of Gender of Reciprocal Chromosomal Translocation on Blastocyst Formation and Pregnancy Outcome in Preimplantation Genetic Testing

et al. 2021

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ObjectiveTo determine the effect of gender of reciprocal chromosomal translocation on blastocyst formation and pregnancy outcome in preimplantation genetic testing, including different parental ages.MethodsThis was a retrospective cohort study that enrolled 1034 couples undergoing preimplantation genetic testing-structural rearrangement on account of a carrier of reciprocal chromosomal translocation from the Reproductive Medicine Center of the First Affiliated Hospital of Zhengzhou University from January 2015 to December 2019. Group A represented 528 couples in which the man was the carrier of reciprocal translocation and group B represented 506 couples in which the woman was the carrier of reciprocal translocation. All patients were divided into two groups according to their age: female age<35 and female age≥35. Furthermore, the differences in blastocyst condition and pregnancy outcome between male and female carriers in each group were further explored according to their father’s age.ResultsThe blastocyst formation rate of group A (55.3%) is higher than that of group B (50%) and the results were statistically significant (P<0.05). The blastocyst formation rate of group A is higher than that of group B, no matter in young maternal age or in advanced maternal age (P<0.05). The blastocyst formation rate in maternal age<35y and paternal age<30y in group A(57.1%) is higher than that of Group B(50%); Similarly, the blastocyst formation rate in maternal age≥35 and paternal age≥38y(66.7%) is higher than that of Group B(33.3%)(all P<0.05). There was no difference in fertilization rate, aeuploidy rate, clinical pregnancy rate, miscarriage rate and live birth rate between Group A and Group B.ConclusionWhen the carrier of reciprocal translocation is male, the blastocyst formation rate is higher than that of female carrier. While there is no significant difference between the two in terms of fertilization rate, aeuploidy rate, clinical pregnancy rate, miscarriage rate and live birth rate.

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Section: Discussionmentioning

confidence: 99%

Effects of Gender of Reciprocal Chromosomal Translocation on Blastocyst Formation and Pregnancy Outcome in Preimplantation Genetic Testing

et al. 2021

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“…Friedenthal et al observed 548 and 368 PGT-A-FET cycles based on NGS and aCGH, respectively, and found that NGS can exclude more mosaic embryos, embryos with segmental aneuploidy, and trisomy embryos as well as yield better pregnancy outcomes [ 10 ]. Furthermore, Niu et al compared the clinical outcomes of 805 NGS-PGT-A cycles and 613 SNP array-PGT-A cycles, and showed that the clinical pregnancy rate and healthy live birth rate in the NGS-PGT-A group were significantly higher [ 11 ]. Moreover, the rate of miscarriage was lower in the NGS-PGT-A group, presumably because NGS can exclude more mosaic embryos [ 11 ].…”

Section: Discussionmentioning

confidence: 99%

“…Furthermore, Niu et al compared the clinical outcomes of 805 NGS-PGT-A cycles and 613 SNP array-PGT-A cycles, and showed that the clinical pregnancy rate and healthy live birth rate in the NGS-PGT-A group were significantly higher [ 11 ]. Moreover, the rate of miscarriage was lower in the NGS-PGT-A group, presumably because NGS can exclude more mosaic embryos [ 11 ]. Consistent with this, a recent study based on 6427 blastocysts showed that NGS yielded a significantly higher mosaicism detection rate (23.3% vs 7.7%), and lower spontaneous abortion rate (6.33% vs 10.07%) than the SNP array in PGT cycles [ 23 ].…”

Section: Discussionmentioning

confidence: 99%

“…Among CCS platforms, NGS has emerged as a research hot spot in the field of PGT-A in recent years. Not only is the resolution of NGS higher than that of aCGH and SNP [ 3 ], but better clinical results can be obtained by applying PGT-A based on NGS [ 10 , 11 ]. At present, the gold standard for detecting mosaic embryos has not been accurately described.…”

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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“…The TE cells in blastocysts from the RA-T group were analyzed for chromosome aneuploidy using SNP microarray analysis, as described previously (17). The next-generation sequencing was used for analyzing clinical PGT chromosome aneuploidy, which was described in a previous study (17).…”

Section: Chromosome Aneuploidy Analysismentioning

confidence: 99%

Calcium Ionophore (A23187) Rescues the Activation of Unfertilized Oocytes After Intracytoplasmic Sperm Injection and Chromosome Analysis of Blastocyst After Activation

Yao

Niu

et al. 2021

Front. Endocrinol.

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Calcium is a crucial factor in regulating the biological behavior of cells. The imbalance of calcium homeostasis in cytoplasm will cause abnormal behavior of cells and the occurrence of diseases. In intracytoplasmic sperm injection (ICSI) cycle, the dysfunction of oocyte activation caused by insufficient release of Ca2+ from endoplasmic reticulum is one of the main reasons for repeated fertilization failure. Calcium ionophore (A23187) is a highly selective calcium ionophore, which can form stable complex with Ca2+ and pass through the cell membrane at will, effectively increasing intracellular Ca2+ levels. It has been reported that calcium ionophore (A23187) can activate oocytes and obtain normal embryos. However, there are few studies on unfertilized oocytes after calcium ionophore (A23187) rescue activation in ICSI cycle. The purpose of this study was to analyze the effects of calcium ionophore (A23187) rescue activation on the activation of unfertilized oocytes, embryonic development potential, embryonic development timing and chromosomal aneuploidy, and to compare and analyze the clinical data of patients with calcium ionophore (A23187) activation in clinical application. The results showed that a certain proportion of high-quality blastocysts with normal karyotype could be obtained after calcium ionophore (A23187) rescue activation of unfertilized oocytes, and it did not have a significant effect on the timing of embryo development. In clinical practice, direct activation with calcium ionophore (A23187) after ICSI was better than rescue activation the next day. In conclusions, the studies on the effectiveness and safety of calcium ionophore (A23187) rescue activation for oocytes with ICSI fertilization failure can enable some patients to obtain usable, high-quality embryos during the first ICSI cycle.

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Improved clinical outcomes of preimplantation genetic testing for aneuploidy using MALBAC-NGS compared with MDA-SNP array

Cited by 13 publications

References 30 publications

Effects of Gender of Reciprocal Chromosomal Translocation on Blastocyst Formation and Pregnancy Outcome in Preimplantation Genetic Testing

Effects of Gender of Reciprocal Chromosomal Translocation on Blastocyst Formation and Pregnancy Outcome in Preimplantation Genetic Testing

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

Calcium Ionophore (A23187) Rescues the Activation of Unfertilized Oocytes After Intracytoplasmic Sperm Injection and Chromosome Analysis of Blastocyst After Activation

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