PRENATAL TESTING IN A FETUS AT RISK FOR AUTOSOMAL-DOMINANT POLYCYSTICKIDNEY-DISEASE AND AUTOSOMAL RECESSIVE JUNCTIONAL EPIDERMOLYSIS-BULLOSA WITH PYLORIC ATRESIA

Amniocentesis and fetal skin biopsies were performed at 18 weeks of ge station in a fetus at risk for autosomal dominant polycystic kidney di sease (ADPKD) and autosomal recessive junctional epidermolysis bullosa (EBJ) with pyloric atresia. A previous son of the couple under invest igation had died at 3 months of EBJ. The mother of the propositus has ADPKD. Genetic linkage studies were carried out in 11 relatives (4 wit h ADPKD), and on fetal DNA obtained from cultured amniocytes, using 8 flanking DNA markers tightly linked to the PKD1 locus on chromosome 16 p, and a DNA marker linked to another putative ADPKD locus on chromoso me 2p. The linkage results indicated that the fetus had not inherited the ADPKD chromosome from the affected mother, with a diagnostic accur acy of >99%. Ultrastructural and immunohistochemical analyses of multi ple fetal skin biopsies showed no EBJ-associated abnormalities. Thus, combining recent morphological and molecular diagnostic methods, we co uld show that the fetus was free from both diseases. After 40 weeks of gestation, a normal male infant was delivered. (C) 1993 Wiley-Liss, I nc.