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本文引用的文献

1
Effect of parental origin and predictors for obtaining a euploid embryo in balanced translocation carriers.亲代来源及平衡易位携带者获得整倍体胚胎的预测因素的影响
Reprod Biomed Online. 2022 Jan;44(1):72-79. doi: 10.1016/j.rbmo.2021.09.007. Epub 2021 Sep 21.
2
Effect of carriers' sex on meiotic segregation patterns and chromosome stability of reciprocal translocations.载玻片性别对相互易位减数分裂分离模式和染色体稳定性的影响。
Reprod Biomed Online. 2021 Dec;43(6):1011-1018. doi: 10.1016/j.rbmo.2021.08.017. Epub 2021 Aug 24.
3
Reproductive outcomes in individuals with chromosomal reciprocal translocations.染色体相互易位个体的生殖结局。
Genet Med. 2021 Sep;23(9):1753-1760. doi: 10.1038/s41436-021-01195-w. Epub 2021 May 10.
4
Genetic counseling prior to assisted reproductive technology.辅助生殖技术前的遗传咨询。
Reprod Med Biol. 2020 Dec 31;20(2):133-143. doi: 10.1002/rmb2.12361. eCollection 2021 Apr.
5
Chromosomal analysis for embryos from balanced chromosomal rearrangement carriers using next generation sequencing.使用下一代测序技术对染色体平衡重排携带者的胚胎进行染色体分析。
Mol Reprod Dev. 2021 May;88(5):362-370. doi: 10.1002/mrd.23469. Epub 2021 Mar 29.
6
PGT-SR (reciprocal translocation) using trophectoderm sampling and next-generation sequencing: insights from a virtual trial.使用滋养层取样和下一代测序的 PGT-SR(相互易位):虚拟试验的见解。
J Assist Reprod Genet. 2021 Aug;38(8):1971-1978. doi: 10.1007/s10815-021-02174-5. Epub 2021 Mar 27.
7
The Effectiveness of Next-Generation Sequencing-Based Preimplantation Genetic Testing for Balanced Translocation Couples.基于新一代测序的胚胎植入前遗传学检测对平衡易位携带者的有效性。
Cytogenet Genome Res. 2020;160(11-12):625-633. doi: 10.1159/000512847. Epub 2021 Feb 25.
8
Conventional ICSI improves the euploid embryo rate in male reciprocal translocation carriers.传统的卵胞浆内单精子注射(ICSI)可提高男性相互易位携带者的整倍体胚胎率。
J Assist Reprod Genet. 2021 Jan;38(1):129-138. doi: 10.1007/s10815-020-02013-z. Epub 2020 Nov 23.
9
Improved clinical outcomes of preimplantation genetic testing for aneuploidy using MALBAC-NGS compared with MDA-SNP array.使用 MALBAC-NGS 进行胚胎植入前遗传学检测非整倍体与 MDA-SNP 阵列相比,改善了临床结局。
BMC Pregnancy Childbirth. 2020 Jul 3;20(1):388. doi: 10.1186/s12884-020-03082-9.
10
Does the prognosis after PGT for structural rearrangement differ between female and male translocation carriers?PGT 用于结构重排后,女性和男性易位携带者的预后是否不同?
Reprod Biomed Online. 2020 May;40(5):684-692. doi: 10.1016/j.rbmo.2020.01.025. Epub 2020 Feb 5.

女性和男性平衡易位携带者的卵巢反应和可移植胚胎数量是否不同?

Are ovarian responses and the number of transferable embryos different in females and partners of male balanced translocation carriers?

机构信息

Reproductive Medical Center, Henan Province Key Laboratory for Reproduction and Genetics, The First Affiliated Hospital of Zhengzhou University, 1# Jianshe East, Zhengzhou, Henan Province, China.

出版信息

J Assist Reprod Genet. 2022 Sep;39(9):2019-2026. doi: 10.1007/s10815-022-02563-4. Epub 2022 Aug 4.

DOI:10.1007/s10815-022-02563-4
PMID:35925537
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9474960/
Abstract

PURPOSE

To compare ovarian response and the number of transferable embryos between women with balanced autosomal translocations and women whose partners carry the translocation (control group). To investigate the predictive value of metaphase II (MII) oocyte number and biopsied embryo number for gaining at lowest one transferable embryo.

DESIGN

We retrospectively analyzed 1942 preimplantation genetic testing for structural rearrangements (PGT-SR) cycles of 1505 balanced autosomal translocation couples over 8 years. All cycles were divided into two subgroups: Robertsonian and reciprocal translocations (ROBT and ReBT). Receiver operator characteristic (ROC) curves were plotted to ascertain a cutoff of MII oocytes and biopsied embryos as predictors of gaining at lowest one transferable embryo.

RESULT

There were no statistical differences in baseline features or ovarian response indicators regarding the number of retrieved/MII oocytes, E2 level on the day of HCG, and ovarian sensitivity index (OSI) between women with balanced autosomal translocations and control group (P > 0.05). A decreased number of transferable embryos were found in women with balanced autosomal translocations regardless of the type of translocation. The cutoff values for gaining at lowest one transferable embryo are 12.5 MII oocytes and 4.5 biopsied embryos, respectively.

CONCLUSION

Women with balanced autosomal translocations have a normal ovarian response, but fewer transferable embryos, meaning that higher gonadotropin (Gn) doses may be required to increase transferable embryos. When fewer than 12.5 MII oocytes or 4.5 blastocysts are obtained in a PGT-SR cycle, couples should be notified that the likelihood of gaining a transferable embryo is low.

摘要

目的

比较平衡染色体易位妇女与配偶携带易位的妇女(对照组)之间的卵巢反应和可移植胚胎数量。探讨中期 II(MII)卵母细胞数量和活检胚胎数量对获得至少一个可移植胚胎的预测价值。

设计

我们回顾性分析了 8 年来 1505 对平衡常染色体易位夫妇的 1942 个胚胎植入前遗传学检测结构重排(PGT-SR)周期。所有周期均分为两个亚组:罗氏易位和相互易位(ROBT 和 ReBT)。绘制受试者工作特征(ROC)曲线,以确定 MII 卵母细胞和活检胚胎的截断值作为获得至少一个可移植胚胎的预测因子。

结果

在基础特征或卵巢反应指标方面,包括获卵数/ MII 卵母细胞数、HCG 日 E2 水平和卵巢敏感指数(OSI),平衡易位组与对照组之间无统计学差异(P>0.05)。无论易位类型如何,平衡易位妇女的可移植胚胎数量均减少。获得至少一个可移植胚胎的截断值分别为 12.5 个 MII 卵母细胞和 4.5 个活检胚胎。

结论

平衡常染色体易位妇女的卵巢反应正常,但可移植胚胎较少,这意味着需要更高剂量的促性腺激素(Gn)来增加可移植胚胎。当 PGT-SR 周期中获得的 MII 卵母细胞少于 12.5 个或活检胚胎少于 4.5 个时,应告知夫妇获得可移植胚胎的可能性较低。