OBJECTIVE To study karyotypes of more than 8,200 oocyte donor candidates in nulliparous or multiparous women compared to a reference population. DESIGN A retrospective observational multicentric study. SUBJECTS The study included two cohorts of oocyte donor candidates recruited between January 2005 and October 2021: multiparous women with at least one child at the time of recruitment, and nulliparous women. Both were compared to a reference population composed of female newborns from literature. EXPOSURE Not applicable. MAIN OUTCOME MEASURES Blood lymphocyte karyotype. RESULTS A total of 8229 oocyte donor candidates from 22 fertility centers were included in this study. Nulliparous women (n=1890) and multiparous ones (n=6339) were compared to 8102 female newborns. Overall, 65 candidates were carriers of chromosomal abnormalities and were therefore excluded from the donation process (0.79%, 95% CI: 0.60-0.98). The occurrence of balanced structural chromosomal rearrangements was globally increased in the study population (0.49%, 95% CI: 0.34-0.64) compared to female newborns (0.24%, 95% CI: 0.34-0.64, p=0.0086). The number of reciprocal translocations was increased 5-fold in nulliparous oocyte donor candidates (0.37%, 95% CI: 0.10-0.64, p=0.013). The incidence of sex chromosome mosaicism was notably increased in multiparous oocyte donor candidates, with 17 cases (0.27%, 95% CI: 0.14-0.40, p=0.0052). Among chromosomal aberration carriers only two nulliparous women (one reciprocal translocation and one sex chromosome mosaicism) had fertility issues with a diagnosis of premature ovarian failure. CONCLUSION In this comprehensive 16-years French experience of karyotyping in oocyte donor candidates, we confirmed an increased incidence of balanced structural chromosomal rearrangements, especially among those without children at the time of recruitment. Karyotyping could be considered to identify any chromosomal abnormalities that may not be easily detectable through medical questioning. These abnormalities pose an inherent genetic risk for gamete recipients if left undetected.

中文翻译：

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卵母细胞供体候选人的染色体异常：对 8200 多种核型的法国调查。


目的 与参考人群相比，研究未产妇或经产妇中 8,200 多例候选卵母细胞的核型。设计 一项回顾性观察性多中心研究。对象 该研究包括 2005 年 1 月至 2021 年 10 月期间招募的两组卵母细胞供体候选人：招募时至少有一个孩子的经产妇和未产妇。将两者都与文献中由女性新生儿组成的参考人群进行了比较。曝光 不适用。主要结局指标 血淋巴细胞核型。结果 本研究共纳入来自 22 个生育中心的 8229 例卵母细胞供体候选者。将未产妇 （n=1890） 和经产妇 （n=6339） 与 8102 名女性新生儿进行了比较。总体而言，65 名候选人是染色体异常的携带者，因此被排除在捐赠过程之外 （0.79%，95% CI： 0.60-0.98）。与女性新生儿 （0.24%，95% CI： 0.34-0.64，p=0.0086） 相比，研究人群 （0.49%，95% CI： 0.34-0.64） 平衡结构染色体重排的发生率总体增加。在未产卵母细胞供体候选者中，互易位的数量增加了 5 倍 （0.37%，95% CI： 0.10-0.64，p=0.013）。经产卵母细胞供体候选者性染色体嵌合体的发生率显著增加，有 17 例 （0.27%，95% CI： 0.14-0.40，p=0.0052）。在染色体畸变携带者中，只有两名未产妇 （1 名相互易位和 1 名性染色体嵌合体） 有生育问题，诊断为卵巢早衰。 结论 在卵母细胞供体候选者核型分析的 16 年法国综合经验中，我们证实了平衡结构染色体重排的发生率增加，尤其是在招募时没有孩子的人中。可以考虑进行核型分析以识别任何可能无法通过医学询问轻易检测到的染色体异常。如果不被发现，这些异常会给配子受体带来固有的遗传风险。