Cornel M C, Leurquin P, de Walle H E, Staal-Schreinemachers A L, Beekhuis J R
Rijksuniversiteit, vakgroep Medische Genetica, EUROCAT-registratie van aangeboren afwijkingen, Groningen.
Ned Tijdschr Geneeskd. 1997 Nov 15;141(46):2239-44.
To describe the epidemiological impact of prenatal diagnosis and selective abortion on the frequency of neural tube defects (NTD) in the period 1980-1992 in the Northern Netherlands in comparison with data from other European regions.
Descriptive.
17 'European registration of congenital anomalies' (EUROCAT) registrations, localized in 10 European countries.
Data were collected actively and retrospectively from multiple sources fed by voluntary registration of congenital anomalies in live births, stillbirths and pregnancies terminated because of congenital anomalies.
In Europe the total birth prevalence of NTD in the period 1980-1992 ranged from 5.3 per 10,000 in Switzerland to 29.0 per 10,000 in Glasgow, a difference of a factor 5.5. In live births the difference was ninefold: ranging from 2.0 per 10,000 in Paris to 18.8 per 10,000 in Dublin. The Netherlands had a conspicuously high prevalence among live births, higher than in other regions in continental Europe. For spina bifida the live birth prevalence both in other continental regions and in Glasgow was also lower than in the Netherlands. In Glasgow serum alpha-foetoprotein screening apparently led to frequent early prenatal diagnosis of NTD and to frequent termination of pregnancy. In Paris the use of ultrasound screening appears to lead to frequent later prenatal diagnosis, as well as frequent termination of pregnancy.
In the Netherlands the impact of prenatal diagnosis and selective abortion is limited, so that primary prevention (periconceptional use of folic acid) is more important than in some other European countries.
描述1980 - 1992年期间荷兰北部产前诊断和选择性流产对神经管缺陷(NTD)发生率的流行病学影响,并与其他欧洲地区的数据进行比较。
描述性研究。
位于10个欧洲国家的17个“欧洲先天性异常登记处”(EUROCAT)。
通过自愿登记活产、死产及因先天性异常而终止妊娠中的先天性异常情况,从多个来源积极且回顾性地收集数据。
在欧洲,1980 - 1992年期间NTD的总出生患病率范围为瑞士每10000例中有5.3例,至格拉斯哥每10000例中有29.0例,相差5.5倍。在活产中,差异为9倍:从巴黎每10000例中的2.0例至都柏林每10000例中的18.8例。荷兰活产中的患病率显著较高,高于欧洲大陆其他地区。对于脊柱裂,其他欧洲大陆地区以及格拉斯哥的活产患病率也低于荷兰。在格拉斯哥,血清甲胎蛋白筛查显然导致NTD的早期产前诊断频繁,以及妊娠终止频繁。在巴黎,超声筛查的使用似乎导致后期产前诊断频繁,以及妊娠终止频繁。
在荷兰,产前诊断和选择性流产的影响有限,因此一级预防(受孕前使用叶酸)比其他一些欧洲国家更为重要。