HOLOPROSENCEPHALY IN HUMAN EMBRYOS - EPIDEMIOLOGIC STUDIES OF 150 CASES
HOLOPROSENCEPHALY IN HUMAN EMBRYOS - EPIDEMIOLOGIC STUDIES OF 150 CASES
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DOI：
10.1002/tera.1420160304
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发表时间：
1977-01-01
期刊：
影响因子：
--
通讯作者：
SHIOTA, K
中科院分区：
文献类型：
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作者：
MATSUNAGA, E;SHIOTA, K
1962~1974年经人工流产术获得的36,380个胚胎中，发现无前脑畸形胚胎150个，总发生率为0.4%。这种情况在很大程度上是随时间随机发生的，没有发现特定年份或月份的流行病，但冬季因受孕而产生的病例似乎比夏季月份多。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，尽管这些病例都不是核型，但与母亲年龄密切相关的染色体异常，如13和18三体，可能不是人类胚胎全前脑的主要原因。产妇年龄并不因有无相关的外部异常而有所不同。没有发现父亲的年龄，父母的血缘关系或母亲的病史，包括月经周期不规律，以及吸烟和饮酒习惯。有迹象表明，这些母亲容易反复流产，这支持了某种母亲的易感性是导致无前脑畸形的原因的观点。有人认为，除了各种染色体异常是这种畸形的原因外，多基因机制可能是大多数正常核型的原因。
One hundred fifty embryos with holoprosencephaly were found among the total of 36,380 conceptuses obtained through induced abortion in 1962-1974, giving an overll incidence of 0.4%. 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 the cases were karyotypes, chromosome aberrations such as trisomies 13 and 18 that are closely associated with maternal age may not consitiute a major part as causes of holoprosencephaly in human embryos. Maternal age did not differ by the presence or absence of associated external anomalies. No association was found with paternal age, parental consanguinity nor 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.