Prenatal diagnosis of pyloric atresia-junctional epidermolysis bullosa syndrome in a fetus not known to be at risk

Junctional epidermolysis bullosa with pyloric atresia (PA-JEB) is a highly lethal, inherited, autosomal recessive disease. Thus far, prenatal diagnosi s of this syndrome was only realized on pregnancies at risk for recurrence. We report the case of a 26-year-old woman, first cousin to her husband, wh o had undergone amniocentesis for polyhydramnios. The karyotype was normal but the amniotic fluid contained acetylcholinesterase. A targeted scan at 2 5 weeks' gestation did not find spina bifida, but polyhydramnios with a dil ated stomach, and several other anomalies: echogenic particles in the amnio tic fluid, a thin skin which closely adhered to the nasal bones, narrow nos trils, abnormal ears, fisted hands, malposition of both first toes, and kid ney malformation. Despite no previous case in the family, it was thought th at sonographic findings were suggestive of the PA-JEB syndrome. A fetal ski n biopsy was carried out at 28 weeks' gestation. The ultrastructural examin ation of fetal skin displayed JEB. Genetic analysis detected a homozygous m utation in the gene encoding integrin alpha 6. Termination of pregnancy was carried out at 29 weeks' gestation. These results illustrate that in the c ase of a fetus not known to be at risk, diagnosis of PA-JEB can be achieved by ultrasound findings leading to fetal skin biopsy and ultrastructural ex amination of blistered epidermis. Some new sonographic signs should raise t he possibility of significant cutaneous desquamation and blister formation in a fetus, especially when there is positive amniotic acetylcholinesterase coupled with elevated alpha-fetoprotein or suspected pyloric atresia. Copy right (C) 2000 John Wiley & Sons, Ltd.