PRENATAL-DIAGNOSIS OF INFANTILE NEURONAL CEROID-LIPOFUSCINOSIS - A COMBINED ELECTRON-MICROSCOPIC AND MOLECULAR-GENETIC APPROACH

Based on two unrelated index patients afflicted with INCL, fetal chori on tissues were studied from subsequent pregnancies of the two respect ive mothers resulting in the prenatal diagnosis of INCL in two of the three pregnancies, Documentation of INCL was based on electron microsc opy and DNA studies of the biopsied chorion tissue, later confirmed in the two affected fetuses after termination of their pregnancies by de monstrating INCL-specific lipopigments in post-mortem tissues, in the liver of both aborted fetuses and, additionally, in spleen and skeleta l muscle of one of the affected fetuses, The autolysis of the aborted tissues, however, precluded a systematic documentation of all affected cell types and tissues, Thus, prenatal diagnosis of INCL is feasible and reliable for both Finnish and non-Finnish families,