Lopez P M, Stone D, Gilmour H
Department of Public Health, University of Glasgow.
Paediatr Perinat Epidemiol. 1995 Jul;9(3):331-40. doi: 10.1111/j.1365-3016.1995.tb00149.x.
The aim of the study was to investigate aspects of the epidemiology of Down's syndrome (DS) in a population subjected to continuous surveillance. Data were obtained from the Glasgow Register of Congenital Anomalies. Over the period 1980-90, 173 cases of DS were identified (1.2 per 1000 births), of which 135 (78.1%) were livebirths, five (2.9%) were stillbirths and 33 (19.1%) were terminations following prenatal diagnosis. The increasing risk of DS with advancing maternal age was confirmed, although most DS pregnancies occurred in women aged under 35. While the birth prevalence of DS did not vary significantly over time, there was a significant increase in DS pregnancy prevalence. The proportion of all DS pregnancies terminated showed a statistically significant rise from 14% in 1980-87 to 31% in 1988-90 following the introduction of a new screening marker for DS risk. Almost half of DS pregnancies in women aged 35 and over ended in termination following prenatal diagnosis compared with only 7% in women under 35. There was a statistically significant excess risk of DS pregnancy in the more prosperous areas of the city; this excess persisted, but was not statistically significant, after standardising the rates for maternal age. These findings suggest that there is no scope for reducing service provision for DS children on the basis of the epidemiological trends, that the antenatal screening programme, while benefiting from the recent introduction of serum markers of risk, continues to have a greater impact on older women, and that further aetiological research using population based registries is required.
本研究的目的是调查在持续监测人群中唐氏综合征(DS)的流行病学情况。数据来源于格拉斯哥先天性异常登记处。在1980年至1990年期间,共识别出173例DS病例(每1000例出生中有1.2例),其中135例(78.1%)为活产,5例(2.9%)为死产,33例(19.1%)为产前诊断后终止妊娠。尽管大多数DS妊娠发生在35岁以下的女性中,但随着母亲年龄的增加,DS的风险增加得到了证实。虽然DS的出生患病率随时间没有显著变化,但DS妊娠患病率有显著增加。在引入一种新的DS风险筛查标志物后,所有DS妊娠终止的比例从1980 - 1987年的14%上升到1988 - 1990年的31%,具有统计学意义。35岁及以上女性中,几乎一半的DS妊娠在产前诊断后终止妊娠,而35岁以下女性中这一比例仅为7%。在城市较富裕地区,DS妊娠的风险显著过高;在对母亲年龄进行标准化后,这种过高情况仍然存在,但无统计学意义。这些发现表明,基于流行病学趋势,没有理由减少为DS患儿提供的服务,产前筛查计划虽然受益于近期引入的血清风险标志物,但对老年女性的影响仍然更大,并且需要使用基于人群的登记处进行进一步的病因学研究。