EPIDEMIOLOGY OF TRISOMY AND OVARIAN AGE

描述：(改编自《调查人员摘要》)调查人员的 长期目标是阐明导致三体的过程，最 人类出生和临床常见的染色体异常 公认的自然流产和严重精神疾病的主要原因 智力迟缓。孕妇年龄增大是三体畸形的主要危险因素。 拟议的项目测试了这种关联是否反映了加速 生理衰老，特别是在卵巢中或更普遍的情况下。 他们假设三体的出现与卵母细胞的大小有关 卵池(卵巢年龄)，卵细胞池较小的女性风险增加 在任何给定的年龄段，发育中的卵泡较少。卵泡 数量在出生前最高，随着年龄的增长而下降；同样，出生后 青春期，每个月经周期内发育的卵泡数量 随着女性年龄的增长而减少。虽然总的池不能在活体内测量， 经阴道超声检查的最新进展现在可以计算出 毛囊。该项目旨在检测在数量上的差异 有三体和无三体的女性之间的卵泡发育。样本 将包括60名患有三体自然流产的妇女(病例)和两名 对照组：80例染色体正常的自然流产妇女 以及60名染色体正常的活产妇女。 具体目标如下：1.测试卵巢是否减少 卵泡发育(表明卵巢年龄更高)的病例比 年龄相同的对照组。2.测试是否还有另外两个 容易获得的卵巢年龄指标--卵泡刺激素 抑制素提示患者的卵巢年龄比对照组更高。 3.在卵泡计数和激素指标均为 与三体相关，以对比它们在区分 病例和对照。4.探索关联是否特定于 通过检测卵巢中的一个非卵巢指标 淋巴细胞生理性年龄X-异倍体提示高级生理学 案例中的年龄。 调查人员表示，对他们的假设的证实已经 对三体形成机制的探索和对 评估生理年龄指标的临床实用性，是否 卵巢或非卵巢。

DESCRIPTION: (Adapted from Investigator's Abstract) The investigators' long-term goal is to elucidate the processes leading to trisomy, the most frequent chromosomal aberration seen among human births and clinically recognized spontaneous abortions and a major cause of severe mental retardation. Advancing maternal age is the primary risk factor for trisomy. The proposed project tests whether this association reflects accelerated physiologic aging, either in the ovary specifically or more generally. They hypothesize that trisomy arises as a function of the size of the oocyte pool (ovarian age), with risk increased in women with smaller oocyte pools and fewer developing follicles at any given chronologic age. Follicle counts are highest before birth and decrease as women age; similarly, after puberty, the numbers of follicles that develop during each menstrual cycle decrease as women age. While the total pool cannot be measured in vivo, recent advances in transvaginal sonography now allow counts of developing follicles. The project is designed to detect a difference in the numbers of developing follicles between women with and without trisomies. The sample will comprise 60 women with trisomy spontaneous abortions (cases) and two control groups: 80 women with chromosomally normal spontaneous abortions and 60 women with chromosomally normal livebirths. The specific aims are as follow: 1. To test whether fewer ovarian follicles develop (indicating more advanced ovarian age) in cases than in controls of the same chronological age. 2. To test whether two more readily obtained indicators of ovarian age -- follicle stimulating hormone and inhibin indicate more advanced ovarian age in cases than in controls. 3. In the event that both follicle counts and hormonal indicators are related to trisomy, to contrast their utility in discriminating between cases and controls. 4. To explore whether associations are specific to aging in the ovary by testing whether one non-ovarian indicator of physiologic age X-aneuploidy in lymphocytes suggests advanced physiologic age in cases. The investigators state that confirmation of their hypothesis has implications both for the search for mechanisms of trisomy formation and for evaluating the clinical utility of indicators of physiologic age, whether ovarian or non-ovarian.