作者对日本开展遗传代谢病产前诊断的主要十五家医院做了一次调查。接受检查的有风险的孕妇共有263人,涉及37个病种。其中195人(74.3%)诊断为正常,64人的(34.3%)诊断为受累,4例无法确诊,3例误诊为正常。最常遇到的遗传代谢病是家族黑朦性痴 The authors conducted a survey of 15 major hospitals in Japan that conducted prenatal diagnosis of inherited metabolic diseases. A total of 263 pregnant women were examined at risk, covering 37 diseases. Of these, 195 (74.3%) were diagnosed as normal, 64 (34.3%) were diagnosed as having involvement, 4 were not diagnosed and 3 were misdiagnosed as normal. The most commonly encountered inherited metabolic disease is a familial darkness