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

Gang Li,Yingchun Su,Wenbin Niu,Yihong Guo,Jiawei Xu,Yingpu Sun,Weiyi Shi

doi:10.3389/fphys.2020.543188

Gang Li, Yingchun Su + Show 5 more

Open Access

https://doi.org/10.3389/fphys.2020.543188

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Abstract

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.

Highlights

Chromosomal polymorphism (CPM) is known as some minor variation of banding karyotype in normal people, and it is constant in an individual
With the exception of body mass index (BMI), there were no significant differences between the two groups within the baseline information (Table 1)
CPM is regarded as a normal variation in individuals, but recent studies have shown that CPM has a notable impact on reproductive outcome

Summary

Introduction

Chromosomal polymorphism (CPM) is known as some minor variation of banding karyotype in normal people, and it is constant in an individual. Most variations consist of heterochromatic regions, which are enriched with highly repetitive satellite DNA sequences. These are located in the non-coding sequences of DNA and often occur in the long or short arms of chromosomes 1, 9, and 16. Polymorphisms of D and G group chromosomes (13, 14, 15, 21, and 22) are included in the short arms, the satellites, and stalks of acrocentric chromosomes. CPM is a normal variant in an individual with no phenotypic variation. Some studies show that CPM has no effect on IVF/intracytoplasmic sperm injection (ICSI) outcome (Ou et al, 2019)

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