Huether C A, Ivanovich J, Goodwin B S, Krivchenia E L, Hertzberg V S, Edmonds L D, May D S, Priest J H
Department of Biological Sciences, University of Cincinnati, OH 45221-0006, USA.
J Med Genet. 1998 Jun;35(6):482-90. doi: 10.1136/jmg.35.6.482.
Our primary objective was to estimate, by one year and five year intervals, maternal age specific risk rates for Down syndrome among whites and among other races from two different populations, metropolitan Atlanta and south west Ohio, using live birth and prenatally diagnosed cases ascertained during 1970-1989. The five year estimates were also calculated separately for each of the five four year periods during these 20 years. Additionally, we compared two different methods of estimating these risk rates by using a third population of whites, and compared two different statistical methods of smoothing the risk rates. The results indicate good agreement between the metropolitan Atlanta and south west Ohio estimates within races, but show a statistically significant difference between the two race categories. Because 86% of live births in the "other races" category in the combined population are to blacks, these data may be seen as the first estimates of maternal age specific risk rates for Down syndrome among blacks calculated by one year intervals. We found excellent agreement in the risk rate estimates among the five four year time periods, between the estimates obtained by using the two different methods of estimation, and between the estimates obtained using the two different methods of statistical smoothing. Our estimated risk rates for white women in their 20s strongly reinforce those from previous studies currently being used for genetic counselling purposes. While we did find somewhat higher rates for women under 20, and increasingly higher rates for those over 30 years of age, these differences are not substantial. Thus, this study in general supports the risk rates estimated from data collected mostly during the 1960s and 1970s.
我们的主要目标是,利用1970年至1989年期间确定的活产和产前诊断病例,按一年和五年的间隔,估算来自两个不同人群(大都市亚特兰大地区和俄亥俄州西南部)的白人和其他种族中唐氏综合征的产妇年龄特异性风险率。还分别计算了这20年中五个四年期各自的五年估算值。此外,我们通过使用第三组白人人群比较了两种估算这些风险率的不同方法,并比较了两种平滑风险率的不同统计方法。结果表明,同一种族内大都市亚特兰大地区和俄亥俄州西南部的估算值之间吻合度良好,但两个种族类别之间存在统计学上的显著差异。由于合并人群中“其他种族”类别86%的活产是黑人的,这些数据可视为按一年间隔计算的黑人中唐氏综合征产妇年龄特异性风险率的首次估算值。我们发现在五个四年期的风险率估算值之间、使用两种不同估算方法获得的估算值之间以及使用两种不同统计平滑方法获得的估算值之间吻合度极佳。我们对20多岁白人女性的风险率估算值有力地强化了先前研究中目前用于遗传咨询目的的那些估算值。虽然我们确实发现20岁以下女性的风险率略高,30岁以上女性的风险率越来越高,但这些差异并不显著。因此,本研究总体上支持主要根据20世纪60年代和70年代收集的数据估算的风险率。