Bick D P, Balkite E A, Baumgarten A, Hobbins J C, Mahoney M J
Department of Human Genetics, Yale University School of Medicine, New Haven, Connecticut.
Prenat Diagn. 1987 Oct;7(8):543-9. doi: 10.1002/pd.1970070803.
We describe a fetus with epidermolysis bullosa dystrophica and a fetus with aplasia cutis congenita who were normal by careful ultrasound examination but whose midtrimester amniotic fluids exhibited elevated concentrations of alpha-fetoprotein and presence of acetylcholinesterase. These cases show that serious fetal skin pathology can be a source of amniotic fluid acetylcholinesterase and elevated alpha-fetoprotein concentration and should be considered as part of the differential diagnosis of these amniotic fluid findings.
我们描述了一名患有营养不良性大疱性表皮松解症的胎儿和一名患有先天性皮肤发育不全的胎儿，他们经仔细超声检查均正常，但孕中期羊水显示甲胎蛋白浓度升高且存在乙酰胆碱酯酶。这些病例表明，严重的胎儿皮肤病理状况可能是羊水乙酰胆碱酯酶和甲胎蛋白浓度升高的来源，在对这些羊水检查结果进行鉴别诊断时应予以考虑。
