Matsunaga E, Shiota K
Teratology. 1977 Dec;16(3):261-72. doi: 10.1002/tera.1420160304.
One hundred fifty embryos with holoprosencephaly were found among the total of 36,380 conceptuses obtained through induced abortion in the period from 1962 to 1974, giving an overall incidence of 0.4 percent. The occurrence was period from 1962 to 1974, giving an overall incidence of 0.4 percent. The occurrence was largely at random through time, and no "epidemic" was noted in particular years or months, but there appeared more cases derived from conceptions in winter than in summer months. The mean maternal age did not differ significantly from that of the general embryonic population, indicating that, although none of our cases were karyotyped, chromosome aberrations such as trisomies 13 and 18 that are closely associated with maternal age may not constitute a major part as causes of holoprosencephaly in human embryos. Materal age did not differ by the presence or absence of associated external anomalies. No association was found with paternal age, parental consanguinity nor with maternal medical history, including irregularity of menstrual cycles, and smoking and drinking habits. There was an indication that the mothers were prone to have repeated miscarriages, supporting the view that some kind of maternal predisposition is responsible for the causation of holoprosencephaly. Argument was made that, apart from various chromosome aberrations well documented as causes of this malformation, polygenic mechanism probably accounts for the majority of the cases with normal karyotype.
在1962年至1974年期间通过人工流产获得的36380个孕体中，发现了150例患全前脑畸形的胚胎，总体发病率为0.4%。发病时间为1962年至1974年，总体发病率为0.4%。发病在时间上基本是随机的，在特定年份或月份未发现“流行”情况，但冬季受孕产生的病例似乎比夏季月份更多。母亲的平均年龄与一般胚胎群体的平均年龄没有显著差异，这表明，尽管我们的病例均未进行核型分析，但与母亲年龄密切相关的染色体畸变，如13三体和18三体，可能不是人类胚胎全前脑畸形的主要病因。母亲年龄不因是否存在相关外部异常而有所不同。未发现与父亲年龄、父母近亲结婚以及母亲的病史（包括月经周期不规律、吸烟和饮酒习惯）有关。有迹象表明，母亲容易反复流产，这支持了某种母体易感性是全前脑畸形病因的观点。有人认为，除了各种已充分证明是这种畸形病因的染色体畸变外，多基因机制可能是大多数核型正常病例的病因。
