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畸形精子症对人类胚胎性染色体的影响。

The Effect of Teratozoospermia on Sex Chromosomes in Human Embryos.

作者信息

Mostafa Nayel Dalia, Salah El Din Mahrous Hanan, El Din Khalifa Emad, Kholeif Soha, Mohamed Elhady Ghada

机构信息

Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt.

Department of Obstetrics and Gynecology, Faculty of Medicine, Alexandria University, Alexandria, Egypt.

出版信息

Appl Clin Genet. 2021 Mar 11;14:125-144. doi: 10.2147/TACG.S299349. eCollection 2021.

Abstract

PURPOSE

The aim of this study is to evaluate the effect of abnormal semen morphology on the frequency of sex chromosomal abnormalities in embryos obtained by ICSI, which represents the first to be studied in Egyptian population.

METHODS

Forty-two couples suffering from male infertility due to teratozoospermia were divided into two groups: patients with severe and moderate teratozoospermia (group A and B, respectively). All involved couples were subjected to careful history taking and had a normal clinical examination and karyotype. Females were subjected to hormonal assays, pelvic ultrasound, hysterosalpingography and yielded normal results, while male partners were subjected to computerized semen analysis. Preimplantation genetic diagnosis was performed for all suitably developed embryos including embryo biopsy, fixation of biopsied cells and fluorescent in situ hybridization (FISH) analysis.

RESULTS

Couples included in the two groups were found to be homogenous in terms of age of both partners and duration of infertility. Interpretation of FISH results was performed by evaluation of embryos' chromosomal constitution as regards abnormalities in chromosomes X, Y and 18. Twenty-seven embryos (48.2%) were found chromosomally abnormal in group A, while only 14 embryos (25.0%) were found chromosomally abnormal in group B. Aneuploidies involved only sex chromosomes were tripled in group A embryos when compared to their frequency in group B embryos (26.8% and 8.3%, respectively) with statistically significant difference between the two groups (p=0.002). Monosomies were the most common type of aneuploidy and were significantly higher in group A (14.3%) when compared to group B (3.6%) (p=0.047). Embryos with mosaic abnormalities were more common in group A (12.5%) when compared to group B (3.6%), however not statistically significantly different (p= 0.162). A significant difference between the two studied groups as regards the total number of potentially viable chromosomal abnormalities detected and the potentially viable sex chromosomal aneuploidies detected (p<0.001 and p=0.002), respectively.

CONCLUSION

The cases with severe teratozoospermia undergoing ICSI treatment can display a higher rate of sex chromosome aneuploidies in their embryos (threefold) than cases with moderate teratozoospermia.

摘要

目的

本研究旨在评估异常精液形态对通过卵胞浆内单精子注射(ICSI)获得的胚胎中性染色体异常频率的影响,这是在埃及人群中首次进行的此类研究。

方法

42对因畸形精子症导致男性不育的夫妇被分为两组:重度和中度畸形精子症患者(分别为A组和B组)。所有参与的夫妇都进行了详细的病史采集,临床检查和核型均正常。女性进行了激素测定、盆腔超声、子宫输卵管造影,结果均正常,而男性伴侣进行了计算机辅助精液分析。对所有发育良好的胚胎进行植入前基因诊断,包括胚胎活检、活检细胞固定和荧光原位杂交(FISH)分析。

结果

两组夫妇在双方年龄和不孕持续时间方面具有同质性。通过评估胚胎染色体X、Y和18的异常情况来解读FISH结果。A组中27个胚胎(48.2%)被发现染色体异常,而B组中只有14个胚胎(25.0%)被发现染色体异常。与B组胚胎相比,A组胚胎中仅涉及性染色体的非整倍体增加了两倍(分别为26.8%和8.3%),两组之间差异有统计学意义(p = 0.002)。单体是最常见的非整倍体类型,A组(14.3%)明显高于B组(3.6%)(p = 0.047)。A组中具有嵌合异常的胚胎(12.5%)比B组(3.6%)更常见,但差异无统计学意义(p = 0.162)。在检测到的潜在可行染色体异常总数和检测到的潜在可行性染色体非整倍体方面,两组之间存在显著差异(分别为p < 0.001和p = 0.002)。

结论

与中度畸形精子症患者相比,接受ICSI治疗的重度畸形精子症患者胚胎中的性染色体非整倍体率可能更高(三倍)。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/974e/7959001/7432e3f9507e/TACG-14-125-g0001.jpg

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