EPIDEMIOLOGY OF TRISOMY AND AGING

长期目标是阐明导致三体的过程。 三体是出生时最常见的染色体畸变， 临床上公认的自然流产，并引起（如三体 21)最常见的重度或中度智力迟钝。 高龄产妇是导致妊娠的主要危险因素。 三体性 拟议的项目测试是否三体出现作为一个功能 卵母细胞池的大小，特别是假设， 在特定的生理年龄， 卵母细胞闭锁率和因此较小的卵母细胞池。 由于闭锁 率是绝经年龄的决定因素，这一假设导致 预测患有三体综合征的女性更年期发生得更早 与染色体正常妊娠的妇女相比， 年代年龄 这项研究利用了在以前的研究中登记的私人患者， 1974-1986年期间。 样本包括自发性 已知核型的流产妇女和对照组的分娩妇女 28周或更晚。 45岁或以上患有三体综合征的女性 自然流产（n=149），染色体正常自然流产 （n=210），或染色体正常的活产（n=261）将被定位， 关于月经功能和其他因素的访谈。 大致两个- 三分之一（n=397）尚未达到绝经期的患者将接受随访 在48个月内每隔6个月进行一次。 具体目标是： 1.为了测试绝经年龄是否早于先前患有 染色体正常的女性中， 自然流产或染色体正常的活产， 通过设计和分析控制研究时的实足年龄 妊娠和随访。 2.为了利用随访期间收集的月经数据， 探讨月经周期不规律是否发病的一个指标 与卵母细胞池的大小和激素变化有关， 先前三体自然流产的妇女比 染色体正常的自然流产或活产妇女。

The long-term goal is to elucidate the processes leading to trisomy. Trisomy is the most frequent chromosomal aberration among births and clinically recognized spontaneous abortions and gives rise (as trisomy 21) to the most prevalent form of severe or moderate mental retardation. Advancing chronologic maternal age is the primary risk factor for trisomy. The proposed project tests whether trisomy arises as a function of the size of the oocyte pool and, in particular, the hypothesis that risk at given chronologic ages is increased in women with accelerated rates of oocyte atresia and hence smaller oocyte pools. Since atresia rate is a determinant of age at menopause, this hypothesis leads to the prediction that menopause occurs earlier among women with trisomic pregnancies than women with chromosomally normal pregnancies at the same chronologic age. The study draws on private patients who enrolled in a previous study over the period 1974-1986. The sample includes women with spontaneous abortions of known karyotype and a control group of women with deliveries at 28 weeks or later. Women who are 45 years or older who had trisomic spontaneous abortions (n=149), chromosomally normal spontaneous abortions (n=210), or chromosomally normal live births (n=261) will be located and interviewed about menstrual function and other factors. The roughly two- thirds (n=397) who will not yet have reached menopause will be followed at six-month intervals over 48 months. The specific aims are: 1. To test whether age at menopause is earlier among women with prior trisomic spontaneous abortions than among women with chromosomally normal spontaneous abortions or with chromosomally normal live births, controlling both by design and analysis for chronologic age at study pregnancy and follow-up. 2. To take advantage of menstrual data collected during follow-up to explore whether onset of menstrual cycle irregularity, an indicator related both to size of the oocyte pool and to hormonal changes, is earlier among women with prior trisomic spontaneous abortions than among women with chromosomally normal spontaneous abortions or live births.