Larsen Severin Olesen, Hansen Jan, Christiansen Michael, Nørgaard-Pedersen Bent
Klinisk biokemisk afdeling, Statens Serum Institut, DK-2300 København S.
Ugeskr Laeger. 2002 Sep 23;164(39):4532-6.
The aim of the study was to describe maternal age-based screening for Down's syndrome (DS) in Denmark, 1980-1998, and to describe and discuss the possibilities for more effective screening procedures.
The prenatally diagnosed and delivered infants with DS as registered in the Danish Cytogenetic Registry, were compared with the expected number calculated from each year's maternal age distribution and the age-dependent DS incidence, taking into account the high probability of miscarriage in DS pregnancies. The expected performance of various screening procedures was calculated by Monte Carlo simulation.
Because of an older maternal age in the pregnant population, the annual expected number of infants with DS rose from about 60 in 1980 to about 110 in 1998. Despite a high frequency (about 11%) of invasive diagnostic procedures, the annual number of DS births also increased in the same period, namely from about 45 to about 65. It is calculated that a change from age-based screening to screening based on a serological risk evaluation could--with the full participation of all pregnant women--have reduced the total number of DS births in this period by about 300.
Revised guidelines from age-based screening to serological screening may potentially reduce the number of DS births cases in Denmark from about 65 per year to about 15.
本研究旨在描述1980 - 1998年丹麦基于孕妇年龄的唐氏综合征（DS）筛查情况，并描述和讨论采用更有效筛查程序的可能性。
将丹麦细胞遗传学登记处登记的产前诊断并分娩的唐氏综合征婴儿，与根据每年孕妇年龄分布及年龄相关的唐氏综合征发病率计算出的预期数量进行比较，同时考虑到唐氏综合征妊娠中流产的高概率。通过蒙特卡洛模拟计算各种筛查程序的预期表现。
由于孕妇群体年龄增大，每年唐氏综合征婴儿的预期数量从1980年的约60例增至1998年的约110例。尽管侵入性诊断程序的频率较高（约11%），同期唐氏综合征出生病例数仍有所增加，即从约45例增至约65例。据计算，如果所有孕妇都充分参与，从基于年龄的筛查转变为基于血清学风险评估的筛查，在此期间可使唐氏综合征出生总数减少约300例。
从基于年龄的筛查修订为血清学筛查指南，可能会使丹麦每年的唐氏综合征出生病例数从约65例降至约15例。
