Staples A J, Sutherland G R, Haan E A, Clisby S
Department of Cytogenetics and Molecular Genetics, Adelaide Children's Hospital, South Australia.
Am J Hum Genet. 1991 Nov;49(5):1014-24.
During 1960-89 687 Down syndrome live births and 46 Down syndrome pregnancy terminations were identified in South Australia. Ascertainment was estimated to be virtually complete. The sex distribution of Down syndrome live births was found to be statistically different from the non-Down syndrome live-birth sex distribution (P less than .01). Smoothed maternal age-specific incidence was derived using both maternal age calculated to the nearest month and a discontinuous-slope regression model. The incidence of Down syndrome at birth for the study period was estimated to be 1.186 Down syndrome births/1,000 live births. Annual population incidence was shown to be correlated with trends in the maternal age distribution of confinements. If current trends in the maternal age distribution of confinements continue, the population incidence of Down syndrome in South Australia is predicted to exceed 1.5 Down syndrome births/1,000 live births during the 1990-94 quinquennium.
1960年至1989年期间,在南澳大利亚州确认了687例唐氏综合征活产病例以及46例唐氏综合征妊娠终止病例。据估计,病例确诊几乎已全部完成。研究发现,唐氏综合征活产儿的性别分布与非唐氏综合征活产儿的性别分布在统计学上存在差异(P值小于0.01)。采用精确到月的母亲年龄计算方法以及间断斜率回归模型得出了平滑的母亲年龄别发病率。研究期间唐氏综合征的出生发病率估计为每1000例活产中有1.186例唐氏综合征患儿出生。年度人口发病率与分娩时母亲年龄分布趋势相关。如果当前分娩时母亲年龄分布趋势继续下去,预计在1990 - 1994年这五年期间,南澳大利亚州唐氏综合征的人口发病率将超过每1000例活产中有1.5例唐氏综合征患儿出生。