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在英国,遗传咨询门诊工作量的主要部分,是接待其子女有神经管缺陷(NTD)复发风险的夫妇,因为他们已有一个患病的孩子或有明显的家族史。所提到的风险是以经验为根据的,并且也来自对整个人群所作的几项主要的、详细的和全面的家族史的研究。同时,这也表明英国NTD发病率存在着由东南到西北逐渐升高的倾向,而且随着这种病人发病率的增高,其子女的复发率也增高。因而,从整个英国看来,虽然NTD复发率一般说是5%左右,但高发病区如贝尔发斯特是8.87%,在大伦敦低发病区却是4.45%。所以,遗传咨询门诊可根据地理位置来修正未来父母的NTD患儿的复发风险。另外,Nevin最近指出,贝尔发斯特NTD的复发率与社会阶层有关,在较高的社会阶层内复发率是较低的。如果遗传咨询门诊的对象是属于特殊阶层,那么,来自对一般人群中NTD的复发率就不适用于他们。为此,作者检查了英国东南部遗传咨询门诊病人中NTD的复发率。材料和方法本研究包括曾在泰晤士河东南区卫生局(SETRHA)遗传中心咨询的全部已有过NTD患儿的妇女,她们已怀孕或准备怀孕,在1972年中期到1979年6月30日,为得到遗传的劝告,到Guy’S医院小儿科研究室进行
In the UK, the major part of the genetic counseling clinic is the couple who receive their children at risk of recurrent neural tube defects (NTD) because they already have a sick child or have a clear family history. The risks mentioned are based on experience and also come from several major, detailed and comprehensive family history studies of the entire population. At the same time, it also shows that the incidence of NTD in Britain tends to increase gradually from southeast to northwest, and the incidence of relapse of children increases as the incidence of NTD increases. Thus, it seems from the UK as a whole that while the prevalence of NTD is generally around 5%, the prevalence is 8.87% in Belfast, and 4.45% in Greater London. Therefore, genetic counseling clinics can be based on geographic location to amend the future parents of children with NTD risk of relapse. In addition, Nevin recently pointed out that the relapse rate of Belfast’s NTD was related to the social class, with a lower relapse rate in the higher social class. If the genetic counseling clinic is a special class, then the relapse rate from the NTD in the general population does not apply to them. To do this, the authors examined the relapse rate of NTD in genetic counseling outpatient southeastern United Kingdom. Materials and Methods This study included all women who had had NTD children who had consulted at the SETRHA Genetic Center and who were pregnant or preparing to become pregnant. Between mid-1972 and June 30, 1979, For genetic counseling, go to Guy’S Hospital Pediatric Laboratory