Stoll C, Alembik Y, Dott B, Roth M P
Institut de Puériculture, Centre Hospitalo-Universitaire, Strasbourg, France.
Ann Genet. 1994;37(4):179-83.
Examination of data from our regional registry of congenital anomalies indicated that 217 children with Down syndrome (DS) were registered (liveborn, stillborn or termination of pregnancy) to mothers living in the Strasbourg area from 1980 to 1992 inclusive. This represents a period prevalence of 1.25 per 1000 total births. From 1980 to 1987, 93 children with DS were registered (prevalence of 0.79 per 1000) whereas from 1988 to 1992, 124 trisomic 21 were identified (prevalence of 1.81 per 1000). In our country since 1980, prenatal diagnosis is offered, free of charge, to all women being 38 years old or more. The percentage of women in whom prenatal diagnosis was performed was "en plateau" since 1986, around 60 per cent. No screening program based on detection of markers in maternal serum (AFP, hCG, U3) is available in our region. A changing pattern of risk in relation to maternal age was identified. In the general population, women under 35 years gave births to 91.7 per cent of all children in 1986 and to 81.1 per cent of all children in 1990. From 1980 to 1987 34.7 per cent of the children with DS were registered in mothers older than 35 years of age, from 1988 to 1992 this percentage was 46.3. From 1982 to 1987, 33 DS were born alive from mothers over 35 years whereas from 1988 to 1992, 25 livebirths DS were born from mothers over 35 years although interruption of DS pregnancies was more frequent in women older than 35 years of age.(ABSTRACT TRUNCATED AT 250 WORDS)
对我们地区先天性异常登记处的数据进行检查后发现,1980年至1992年(含)期间,居住在斯特拉斯堡地区的母亲所生的患有唐氏综合征(DS)的儿童(活产、死产或终止妊娠)共有217例登记在册。这代表每1000例总出生数的期间患病率为1.25。1980年至1987年,登记有93例患有DS的儿童(患病率为每1000例中有0.79例),而1988年至1992年,确诊124例21三体患儿(患病率为每1000例中有1.81例)。自1980年以来,在我国,所有38岁及以上的女性均可免费接受产前诊断。自1986年以来,接受产前诊断的女性比例一直“稳定”在60%左右。我们地区没有基于检测母血清标志物(甲胎蛋白、人绒毛膜促性腺激素、未结合雌三醇)的筛查项目。发现了与母亲年龄相关的风险变化模式。在一般人群中,35岁以下的女性在1986年生育了所有儿童的91.7%,在1990年生育了所有儿童的81.1%。1980年至1987年,34.7%的患有DS的儿童登记在35岁以上的母亲名下,1988年至1992年,这一比例为46.3%。1982年至1987年,33例DS患儿为35岁以上母亲的活产婴儿,而1988年至1992年,25例DS活产婴儿为35岁以上母亲所生,尽管35岁以上女性中断DS妊娠的情况更为频繁。(摘要截选至250字)