EPIDEMIOLOGY OF TRISOMY AND AGING

长期目标是阐明导致三体的过程。 三体是新生儿和婴儿中最常见的染色体异常 临床上公认的自然流产并导致(三体) 21)严重或中度精神发育迟滞的最普遍形式。 按年龄段计算的产妇年龄偏高是导致 三体。拟议的项目测试了三体是否会作为一种函数出现 卵母细胞池的大小，特别是，假设 患有早产儿的妇女在特定年龄段的风险增加 卵母细胞闭锁率，因此卵母细胞池较小。自闭锁以来 心率是绝经年龄的决定因素，这一假设导致了 预测患有三体的女性更年期更早 与染色体正常妊娠的妇女相比， 按时间顺序排列的年龄。 这项研究利用了之前参加过一项研究的私人患者 1974-1986年间。样本包括患有自发性精神分裂症的女性 已知核型的流产和分娩妇女的对照组 在28周或以后。45岁或以上患有三体的女性 自然流产(n=149)，染色体正常自然流产 (n=210)，或染色体正常活产(n=261)将被定位并 就月经功能等因素进行访谈。大概有两个- 将对尚未达到更年期的三分之一(n=397)患者进行随访 每隔6个月，超过48个月。具体目标是： 1.测试既往有绝经史女性的绝经年龄是否较早 与染色体正常的妇女相比，三体自发流产 自然流产或染色体正常的活产， 以设计和分析相结合的方法控制研究中的年龄 怀孕和随访。 2.利用在跟进期间收集的月经数据 探讨月经周期不规律的开始是否是一个指标 与卵母细胞池的大小和荷尔蒙变化有关的是 既往有三体自然流产史的女性比 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.