自1972年以来即用母体血清和羊膜液的甲种胎儿蛋白(AFP)来诊断胎儿神经管缺陷,在胃肠道、肾和其它器官先天性异常时其浓度升高。本文报告第一例常染色体显性遗传的大疱性表皮松解症患者的AFP升高。一位21岁初产妇,无明显疾病或家族病史,在妊娠16、17和18周时检查AFP浓度为150、165和160微克/升,明显高于正常值的上限(分别为90、100和124微克/升)。妊娠20周时检查羊膜液AFP浓度为26.5毫克/升,属正常范围(上限为28毫克/升)。39周后正常分娩一女婴。患儿小腿、腕和腹部 Fetal neural tube defects (AFP) have been diagnosed using fetal and fetal A-fetoprotein (AFP) since 1972 and have been shown to have elevated concentrations in congenital abnormalities of the gastrointestinal tract, kidneys and other organs. This article reports the first case of autosomal dominant epidermolysis bullosa in patients with elevated AFP. A 21-year-old primiparous patient with no apparent disease or family history examined AFP concentrations of 150, 165 and 160 μg / L at weeks 16, 17 and 18 of gestation, significantly above the upper limit of normal (90, 100 and 124, respectively Microgram / liter). Amniotic fluid AFP concentration of 26.5 mg / L at 20 weeks of gestation was in the normal range (upper limit of 28 mg / L). After 39 weeks of normal delivery a baby girl. Children calf, wrist and abdomen