Roberts C J, Lloyd S
Br Med J. 1973 Oct 6;4(5883):20-2. doi: 10.1136/bmj.4.5883.20.
Data are presented from the South Wales Congenital Malformation Survey (92,982 births 1964-6 inclusive) showing that within areas in South Wales there exists an inverse relation between previous spontaneous abortion rate and the prevalence at birth of neural tube defect (anencephaly or spina bifida cystica or both). This relation is independent of social class, parity, and maternal age, and is not likely to be explained by area differences in accuracy of reporting previous spontaneous abortions.On the basis of these findings a hypothesis is advanced which proposes that the incidence of neural tube defects is uniform throughout South Wales and that the present substantial and relatively stable differences in area prevalence are controlled by small area differences in mortality of malformed embryos. This would seem to suggest that factors initiating the malformation are genetic and that any related environmental factors exert their effect on already abnormal fetuses by influencing, in one way or another, their capacity to survive.
南威尔士先天性畸形调查(涵盖1964年至1966年共92,982例出生病例)的数据表明,在南威尔士各地区,既往自然流产率与神经管缺陷(无脑儿、脊柱裂或两者兼有)的出生患病率之间存在负相关关系。这种关系不受社会阶层、产次和产妇年龄的影响,也不太可能是由于各地区报告既往自然流产的准确性差异所致。基于这些发现,我们提出了一个假设,即整个南威尔士神经管缺陷的发病率是一致的,目前各地区患病率存在显著且相对稳定的差异是由畸形胚胎死亡率的小区域差异所控制的。这似乎表明引发畸形的因素是遗传因素,而任何相关的环境因素都是通过以某种方式影响异常胎儿的存活能力,从而对已经异常的胎儿产生作用。