Sutherland G R, Clisby S R, Bloor G, Carter R F
Med J Aust. 1979 Jul 28;2(2):58-61. doi: 10.5694/j.1326-5377.1979.tb112703.x.
In a survey of Down's syndrome in South Australia, 921 persons, both living and deceased, were identified; 717 individuals with the disorder were living in South Australia. Cytogenetic confirmation of the diagnosis had been made in 774 cases. From 1955 to 1977, the over-all incidence of Down's syndrome at birth was found to be 1.175/1000 live births. The incidence of Down's syndrome was significantly lower over the last five years of this period than for the first 18 years; thus it appears that the incidence of Down's syndrome in South Australia is falling. Analysis of maternal age changes with time has not revealed any changes to the maternal age-specific rates for Down's syndrome, although the rate for mothers aged 25 years or younger appears to be falling. The proportion of Down's syndrome babies born to women aged 35 years or more has decreased from 65.7% for those born before 1950 to 30.4% for those born from 1975 to 1977; similarly, the median maternal age has fallen from 37.12 years to 28.25 years. Regression analyses of maternal age rates for Down's syndrome by single years have produced figures suitable for genetic counselling. A plea is made that Down's syndrome should become a notifiable condition.
在一项对南澳大利亚唐氏综合征的调查中,共识别出921人,包括在世者和已故者;其中717名患有该疾病的个体居住在南澳大利亚。774例病例已通过细胞遗传学确诊。1955年至1977年期间,唐氏综合征的总体出生发病率为1.175/1000活产。在此期间的最后五年,唐氏综合征的发病率显著低于前18年;因此,南澳大利亚唐氏综合征的发病率似乎正在下降。对随时间变化的母亲年龄进行分析后发现,尽管25岁及以下母亲的发病率似乎在下降,但唐氏综合征按母亲年龄划分的发病率并无变化。35岁及以上女性所生唐氏综合征婴儿的比例已从1950年前出生者的65.7%降至1975年至1977年出生者的30.4%;同样,母亲年龄中位数也从37.12岁降至28.25岁。按单一年龄对唐氏综合征母亲年龄发病率进行的回归分析得出了适用于遗传咨询的数据。有人呼吁将唐氏综合征列为应报告疾病。