已生过神经管缺损婴儿的母亲,再孕时,可进行产前诊断,其再现危险率为1/20。有些伴发神经管缺损的疾病是由于单基因异常引起的,因而再现危险率很高。Holmes等1976年提示:有1/4再现危险率的Meckel综合征几乎占有神经管缺损新生儿的5％。本文报导了一个25岁健康妇女,曾分娩一患枕骨脑膨出和多指(Meckel综合征)的女性死胎。本次妊娠发现:胎儿左右顶骨直径小于妊娠龄(停经17周测得直径为 A mother who has had a birth defect of a neural tube defect may be given a prenatal diagnosis when re-implanted and the risk of reproduction is 1/20. Some of the diseases associated with neural tube defects are due to single-gene abnormalities, so the reproductive risk is high. Holmes et al. (1976) suggest that Meckel syndrome, which has a reproductive risk of 1/4, accounts for almost 5% of neonatal neural tube defects. This article reports on a 25-year-old healthy woman who had given birth to a stillborn fetus with occipital bulging and multiple fingers (Meckel’s syndrome). The pregnancy found: fetal parietal diameter less than gestational age (17-week menopause measured diameter