包心倒位(Inv)1 变异患者的囊胚染色体异常率较高。

IF 2.1 4区 医学 Q2 OBSTETRICS & GYNECOLOGY
Human Fertility Pub Date : 2023-12-01 Epub Date: 2023-02-20 DOI:10.1080/14647273.2023.2179896
Miaomiao Jia, Xia Xue
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引用次数: 0

摘要

本研究的目的是评估 1 号染色体包心反转(PEI-1)携带者囊胚期胚胎中不平衡染色体重排的发生率。对来自 22 个 PEI-1 携带者的 98 个胚胎进行了非平衡重排检测,这些非平衡重排来自倒位携带者和整体非整倍体。逻辑回归分析表明,倒位片段大小与染色体长度的比值是 PEI-1 携带者发生不平衡染色体重排的一个具有统计学意义的风险因素(p = 0.003)。预测染色体不平衡重排风险的最佳临界值为 36%,而 PEI-1 携带者的发生率为 2.0%。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Higher chromosomal abnormality rate in blastocysts from a subset of patients with pericentric inversion (Inv) 1 variant.

The purpose of this study was to evaluate the incidence of unbalanced chromosome rearrangement in blastocyst-stage embryos from carriers of pericentric inversion of chromosome 1 (PEI-1). A total of 98 embryos from 22 PEI-1 carriers were tested for unbalanced rearrangements, originating from inversion carriers, and overall aneuploidy. Logistic regression analysis indicated that the ratio of inverted segment size to chromosome length was a statistically significant risk factor for unbalanced chromosome rearrangement from PEI-1 carriers (p = 0.003). The optimal cut-off values to predict the risk of unbalanced chromosome rearrangement was 36%, with the incidence being 2.0% in the <36% group and 32.7% in the ≥36% group. The unbalanced embryo rate was 24.4% in male carriers compared to 12.3% in female carriers. Inter-chromosomal effect analysis was performed using 98 blastocysts from PEI-1 carriers and 116 blastocysts from age-matched controls. PEI-1 carriers had similar sporadic aneuploidy rates compared to those of age-matched controls at 32.7 vs. 31.9%, respectively. In conclusion, the risk of unbalanced chromosome rearrangement is affected by inverted segment size in PEI-1 carriers.

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来源期刊
Human Fertility
Human Fertility OBSTETRICS & GYNECOLOGY-REPRODUCTIVE BIOLOGY
CiteScore
3.30
自引率
5.30%
发文量
50
期刊介绍: Human Fertility is a leading international, multidisciplinary journal dedicated to furthering research and promoting good practice in the areas of human fertility and infertility. Topics included span the range from molecular medicine to healthcare delivery, and contributions are welcomed from professionals and academics from the spectrum of disciplines concerned with human fertility. It is published on behalf of the British Fertility Society. The journal also provides a forum for the publication of peer-reviewed articles arising out of the activities of the Association of Biomedical Andrologists, the Association of Clinical Embryologists, the Association of Irish Clinical Embryologists, the British Andrology Society, the British Infertility Counselling Association, the Irish Fertility Society and the Royal College of Nursing Fertility Nurses Group. All submissions are welcome. Articles considered include original papers, reviews, policy statements, commentaries, debates, correspondence, and reports of sessions at meetings. The journal also publishes refereed abstracts from the meetings of the constituent organizations.
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