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PGT-A后染色体多态性不明原因复发性流产夫妇的非整倍体率及妊娠结局分析

Analysis of Aneuploidy Rate and Pregnancy Outcomes in Unexplained Recurrent Pregnancy Loss Couples With Chromosome Polymorphism After PGT-A.

作者信息

Cao Mingzhu, Zhang Qian, Zhou Wei, Zhu Yueting, Li Hongchang, Yan Junhao

机构信息

Center for Reproductive Medicine, Cheeloo College of Medicine, Shandong University, Jinan, China.

Key Laboratory of Reproductive Endocrinology of Ministry of Education, Shandong University, Jinan, China.

出版信息

Front Med (Lausanne). 2022 Mar 31;9:803988. doi: 10.3389/fmed.2022.803988. eCollection 2022.

DOI:10.3389/fmed.2022.803988
PMID:35433744
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9008326/
Abstract

PURPOSE

The study aims to investigate whether chromosomal polymorphism affects embryo development and pregnancy outcomes of unexplained recurrent pregnancy loss (uRPL) couples undergoing PGT-A.

METHODS

A total of 585 couples with uRPL history who performed PGT-A were included in the retrospective study from January 2016 to December 2020. We included 415 couples with normal karyotype and 170 couples with chromosomal polymorphism. Furthermore, the polymorphism group was divided into two subgroups: 113 couples in the male group and 57 couples in the female group. The embryo development and pregnancy outcomes were analyzed in different groups.

RESULTS

The blastocyst rate and aneuploidy rate are statistically different in the normal group, male polymorphism group, and female polymorphism group. Compared with normal and female groups, the male group has a lower blastocyst rate, which is statistically different (48.3 vs. 53.9%, = 0.003; 48.3 vs. 54.1%, = 0.043). Moreover, the aneuploidy rate of the male polymorphism group is significantly higher than female carriers (29.5 vs. 18.6%, = 0.003). However, there were no statistically significant differences in clinical pregnancy rate, early miscarriage rate, and live birth rate after PGT-A ( > 0.05).

CONCLUSION

Male with chromosome polymorphism (CPM) have a lower blastocyst rate and a higher aneuploidy rate than female carriers in uRPL couples undergoing PGT-A. However, when a euploid blastocyst was first transferred, no difference in pregnancy outcomes was found between the male and female polymorphism carriers. It indicated that CPM may have an adverse effect on the embryos of male carriers with uRPL history, and the occurrence of uRPL may be decreased in male polymorphism carriers after PGT-A.

摘要

目的

本研究旨在调查染色体多态性是否会影响接受植入前遗传学检测非整倍体(PGT-A)的不明原因复发性流产(uRPL)夫妇的胚胎发育和妊娠结局。

方法

本回顾性研究纳入了2016年1月至2020年12月期间共585例行PGT-A的有uRPL病史的夫妇。我们纳入了415例核型正常的夫妇和170例有染色体多态性的夫妇。此外,多态性组又分为两个亚组:男性组113对夫妇和女性组57对夫妇。分析不同组别的胚胎发育和妊娠结局。

结果

正常组、男性多态性组和女性多态性组的囊胚率和非整倍体率存在统计学差异。与正常组和女性组相比,男性组的囊胚率较低,具有统计学差异(48.3%对53.9%,P = 0.003;48.3%对54.1%,P = 0.043)。此外,男性多态性组的非整倍体率显著高于女性携带者(29.5%对18.6%,P = 0.003)。然而,PGT-A后的临床妊娠率、早期流产率和活产率没有统计学显著差异(P>0.05)。

结论

在接受PGT-A的uRPL夫妇中,具有染色体多态性的男性(CPM)比女性携带者的囊胚率更低,非整倍体率更高。然而,当首次移植整倍体囊胚时,男性和女性多态性携带者之间的妊娠结局没有差异。这表明CPM可能对有uRPL病史的男性携带者的胚胎有不良影响,PGT-A后男性多态性携带者的uRPL发生率可能会降低。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/995b/9008326/0a4c561a39c5/fmed-09-803988-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/995b/9008326/ee42ac8080fd/fmed-09-803988-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/995b/9008326/0a4c561a39c5/fmed-09-803988-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/995b/9008326/ee42ac8080fd/fmed-09-803988-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/995b/9008326/0a4c561a39c5/fmed-09-803988-g002.jpg

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本文引用的文献

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Front Physiol. 2020 Nov 26;11:543188. doi: 10.3389/fphys.2020.543188. eCollection 2020.
2
Co-occurrences of polymorphic heterochromatin regions of chromosomes and effect on reproductive failure.染色体多态性异染色质区的共存及其对生殖失败的影响。
Reprod Biol. 2020 Mar;20(1):42-47. doi: 10.1016/j.repbio.2019.12.006. Epub 2019 Dec 30.
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Sperm DNA fragmentation and recurrent pregnancy loss: a systematic review and meta-analysis.
精子 DNA 碎片化与复发性妊娠丢失:系统评价与荟萃分析。
Fertil Steril. 2019 Jul;112(1):54-60.e3. doi: 10.1016/j.fertnstert.2019.03.003. Epub 2019 May 2.
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Meta-analysis of the association between chromosomal polymorphisms and outcomes of embryo transfer following in vitro fertilization and/or intracytoplasmic sperm injection.体外受精和/或胞浆内单精子注射后胚胎移植结局与染色体多态性的关联:荟萃分析。
Int J Gynaecol Obstet. 2019 Feb;144(2):135-142. doi: 10.1002/ijgo.12702. Epub 2018 Nov 16.
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Chromosomal polymorphisms are independently associated with multinucleated embryo formation.染色体多态性与多核胚胎形成独立相关。
J Assist Reprod Genet. 2018 Jan;35(1):149-156. doi: 10.1007/s10815-017-1037-9. Epub 2017 Sep 12.
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J Assist Reprod Genet. 2017 Aug;34(8):1017-1025. doi: 10.1007/s10815-017-0951-1. Epub 2017 Jun 1.
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Recurrent pregnancy loss: current perspectives.复发性流产:当前观点
Int J Womens Health. 2017 May 17;9:331-345. doi: 10.2147/IJWH.S100817. eCollection 2017.
8
The incidence of long heterochromatic polymorphism variants in infants conceived through assisted reproductive technologies.
Reprod Biomed Online. 2017 Aug;35(2):219-224. doi: 10.1016/j.rbmo.2017.04.008. Epub 2017 May 15.
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Chromosomal polymorphisms are associated with female infertility and adverse reproductive outcomes after infertility treatment: a 7-year retrospective study.染色体多态性与女性不孕及不孕治疗后的不良生殖结局相关:一项7年回顾性研究。
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Y chromosome polymorphisms may contribute to an increased risk of male-induced unexplained recurrent miscarriage.Y染色体多态性可能会增加男性因素导致的不明原因复发性流产的风险。
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