本文利用PCP体外基因放大新技术成功地对1例单卵双胎的水肿胎儿综合征进行了产前诊断,同时确定了此双胎复合β地中海贫血的1种突变——β41/42(—4bp),此种病例国内外属首次报道,甚为罕见。 In this paper, prenatal diagnosis of edema fetal syndrome in one case of monozygotic twins was successfully performed using PCP gene amplification in vitro. At the same time, one mutation of β41 / 42 (-4 bp ), This case was first reported at home and abroad, is very rare.