Chromosomal polymorphisms are independently associated with multinucleated embryo formation

Sun, Lijun; Chen, Zhiheng; Yang, Li; Yi, Cuixing; Li, Jun; Ou, Chun Quan

doi:10.1007/s10815-017-1037-9

Cited by 15 publications

(10 citation statements)

References 29 publications

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“…Then, the PGT data were analyzed for CTCPM carriers and CT carriers. Embryo development suggests that CPM is associated with multinucleated embryo formation (Sun et al, 2018) and has an impact on fertilization rate, embryo cleavage rate, high-quality embryo rate, and live birth rate (Liang et al, 2014;Ou et al, 2019). However, in our data, there was no statistical difference in fertilization rate, cleavage rate on Day 3, blastocysts rate, or highquality blastocyst rate between CPM carriers and patients with normal chromosomes.…”

Section: Discussioncontrasting

confidence: 77%

“…Madon and Athalye (2005) showed that CPM accounts for a high proportion of patients with primary infertility or repeated miscarriages. Some studies show that CPMs are independently associated with multinucleated embryo formation (Sun et al, 2018). It is even suggested that male CPMs are linked to a higher cumulative early miscarriage rate and lower live birth rate following in vitro fertilization (IVF) (Ni et al, 2017).…”

Section: Introductionmentioning

confidence: 99%

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The Influence of Chromosomal Polymorphism on Embryo Development and Embryonic Molecular Karyotype in Preimplantation Genetic Testing for Chromosomal Translocation

Shi

Niu

et al. 2020

Front. Physiol.

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Traditionally, chromosomal polymorphisms (CPMs) are normal genetic variants in individuals with no phenotypic variations. However, some studies have shown that CPM is related to reproductive diseases. We explored the influence of CPM on embryonic development and molecular karyotype in chromosomal translocation (CT) patients undergoing preimplantation genetic testing (PGT) between February 2013 and May 2019. Twenty-six cases with CPM and 56 controls with normal chromosomes were included. Furthermore, a 1:4 match pair analysis by female age included 39 cases with CTCPM and 185 controls with CT. There was no statistical difference in fertilization rate (78.48% vs. 78.33%), cleavage rate on Day 3 (90.32% vs. 89.16%), blastocyst rate (60.00% vs. 60.80%), and the high-quality blastocyst rate (36.31% vs. 35.22%) between CPM and normal chromosomes. The high-quality blastocyst rate of CTCPM was significantly lower than that for CT (26.78% vs. 38.89%). Moreover, there was no statistical difference in fertilization rate (70.65% vs. 70.37%), cleavage rate on Day 3 (88.67% vs. 89.53%), and blastocyst rate (48.48% vs. 53.17%) between CTCPM and CT. In addition, one CTCPM spouse had a lower high-quality blastocyst rate, especially of males with CTCPM. Abnormal embryo rates of CTCPM were significantly higher than those for CT (78.64% vs. 68.93%). Abnormal embryo rates were higher in both CTCPM and CPM paternal carriers with CT partners, respectively. For CT, CTCPM may have an impact on the high-quality blastocyst rate and embryonic molecular karyotype, especially in male patients. Patients with CTCPM are relatively rare, but this population would benefit from being explored using a larger sample size.

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Section: Discussioncontrasting

confidence: 77%

Section: Introductionmentioning

confidence: 99%

The Influence of Chromosomal Polymorphism on Embryo Development and Embryonic Molecular Karyotype in Preimplantation Genetic Testing for Chromosomal Translocation

Shi

Niu

et al. 2020

Front. Physiol.

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“…Without a reference standard other than between homologues, it is difficult to determine whether two similar-sized homologues are slightly smaller or larger than the normal ones [16]. In addition, we found that the diagnostic criteria in different literatures were not uniform, although most of the literature was consistent with ours [8, 17], some did not mention the details of the judgment criteria [9, 18]. This could be one of the reasons for conflicting reports of heteromorphisms impact human reproduction.…”

Section: Discussionsupporting

confidence: 71%

C-banding and AgNOR-staining were still effective complementary methods to indentify chromosomal heteromorphisms and some structural abnormalities in prenatal diagnosis

Zhu

Cai

et al. 2019

Mol Cytogenet

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Background In prenatal diagnosis, CMA has begun to emerge as a favorable alternative to karyotype analysis, but it could not identify balanced translocations, triploidies, inversion and heteromorphisms. Therefore, conventional cytogenetic and specific staining methods still play an important role in the work-up of chromosome anomaly. This study investigated the application of C-banding and AgNOR-staining techniques in prenatal diagnosis of chromosomal heteromorphisms and some structure abnormalities. Results Among the 2970 samples, the incidence of chromosomal heteromorphisms was 8.79% (261/2970). The most frequent was found to be chromosome Y (2.93%, 87/2970), followed by chromosome 1 (1.65 %, 49/2970), 9 (1.52 %, 45/2970), 22 (0.77 %, 23/2970) and 15 (0.64 %, 19/2970). We compared the incidence of chromosomal heteromorphisms between recurrent spontaneous abortion (RSA) group and control group. The frequency of autosomal hetermorphisms in RSA group was 7.63% higher than that in control group (5.78%), while the frequency of Y chromosomal heteromorphisms was 4.76% lower than that in control group (5.71%). Here we summarized 4 representative cases, inv (1) (p12q24), psu dic (4;17) (p16.3;p13.3), r(X)(p11; q21) and an isodicentric bisatellited chromosome to illustrate the application of C-banding or AgNOR-staining, CMA or NGS was performed to detect CNVs if necessary. Conclusions This study indicated that C-banding and AgNOR-staining were still effective complementary methods to identify chromosomal heteromorphisms and marker chromosomes or some structural rearrangements involving the centromere or acrocentric chromosomes. Our results suggested that there was no evidence for an association between chromosomal heteromorphisms and infertility or recurrent spontaneous abortions. Undoubtedly, sometimes we needed to combine the results of CMA or CNV-seq to comprehensively reflect the structure and aberration of chromosome segments. Thus, accurate karyotype reports and genetic counseling could be provided.

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“…Finally, a previous study found that chromosomal polymorphisms were independently associated with the formation of multinucleated embryos . Of note, the good quality embryos rate in the multinucleated embryo group was lower than that recorded in the normal embryo group, which suggested that the good quality embryos rate might also be affected by semen quality.…”

Section: Discussionmentioning

confidence: 84%

Meta‐analysis of the association between chromosomal polymorphisms and outcomes of embryo transfer following in vitro fertilization and/or intracytoplasmic sperm injection

Yin

Chen

et al. 2018

Intl J Gynecology & Obste

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Background The outcomes of in vitro fertilization and/or intracytoplasmic sperm injection (IVF/ICSI) are contradictory among individuals with chromosomal polymorphisms. Objectives To assess whether chromosomal polymorphisms affect the outcomes of assisted reproductive technologies. Search strategy Four online databases were searched from inception to September 18, 2017, using terms including “chromosomal polymorphisms” and “In vitro fertilization.” Selection criteria The meta‐analysis included studies published in any language on IVF/ICSI outcomes in relation to male and/or female chromosomal polymorphisms (n=8). Data collection and analysis Data were extracted using a predesigned form. The IVF/ICSI outcomes were then pooled and their heterogeneity assessed. Main results Male chromosomal polymorphisms showed lowered values for fertilization rate (odds ratio [OR] 1.29, 95% confidence interval [CI] 1.09–1.54; P=0.004); cleavage rate (OR 2.65, 95% CI 1.88–3.72; P<0.001); good quality embryos rate (OR 1.26, 95% CI 1.15–1.39; P<0.001); and live birth rate (OR 1.42, 95% CI 1.10–1.83; P=0.007). By contrast, early spontaneous abortion rate, clinical pregnancy rate, and ongoing pregnancy rate were not affected in this group. No relationship was found between IVF/ICSI outcomes and female chromosomal polymorphisms. Conclusions Male, but not female, chromosomal polymorphisms were associated with lowered values for some outcomes of IVF/ICSI.

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Chromosomal polymorphisms are independently associated with multinucleated embryo formation

Abstract: Chromosomal polymorphisms were independently associated with multinucleation embryo formation. A higher LH level on the day of HCG triggering was associated with a decreased chance of multinucleation.

Cited by 15 publications

References 29 publications

The Influence of Chromosomal Polymorphism on Embryo Development and Embryonic Molecular Karyotype in Preimplantation Genetic Testing for Chromosomal Translocation

The Influence of Chromosomal Polymorphism on Embryo Development and Embryonic Molecular Karyotype in Preimplantation Genetic Testing for Chromosomal Translocation

C-banding and AgNOR-staining were still effective complementary methods to indentify chromosomal heteromorphisms and some structural abnormalities in prenatal diagnosis

Meta‐analysis of the association between chromosomal polymorphisms and outcomes of embryo transfer following in vitro fertilization and/or intracytoplasmic sperm injection

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