EPIDEMIOLOGY OF TRISOMY AND OVARIAN AGE

描述：（改编自研究者摘要） 长期目标是阐明导致三体的过程，最重要的是 在人类出生和临床上经常看到染色体畸变 公认的自然流产和严重精神疾病的一个主要原因 迟钝 高龄产妇是三体性的主要危险因素。 拟议的项目测试这种关联是否反映了加速 生理老化，无论是在卵巢具体或更普遍。 他们假设三体的出现是卵母细胞大小的函数 池（卵巢年龄），卵母细胞池较小的女性风险增加 在任何特定的年龄段，发育中的卵泡都较少。 卵泡 出生前最高，随着年龄的增长而下降;同样， 青春期，每个月经周期中发育的卵泡数量 随着女性年龄的增长而减少。 虽然不能在体内测量总池， 经阴道超声检查的最新进展现在允许对发育中的 毛囊 该项目的目的是检测不同数量的 在有和没有三体的女性之间发育卵泡。 样品 将包括60名三体性自然流产妇女（例）和2名 对照组：80例染色体正常的自然流产妇女 和60名染色体正常的孕妇。 具体目标如下：1. 为了测试卵巢数量是否减少 卵泡发育（表明卵巢年龄更大）的情况下， 控制相同的实际年龄。 2. 为了测试是否还有两个 容易获得的卵巢年龄指标--卵泡刺激素 和卵巢成熟度表明病例组的卵巢年龄较对照组提前。 3. 如果卵泡计数和激素指标均 与三体性相关，以对比它们在区分 病例和对照。 4. 为了探究关联是否是特定于 通过测试卵巢中的一个非卵巢指标， 生理年龄淋巴细胞的X-非整倍体提示晚期生理 案件中的年龄 调查人员表示，他们的假设得到了证实。 这对研究三体形成机制和 评估生理年龄指标的临床效用， 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.