Prenatal Diagnosis of Ingenited Metabolic Disorders Using Maternal Blood

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Prenatal diagnosis by maternal blood is non-invasive manner for mother and fetus. Blood from 3-4 months pregnant mother contain fetal trophoblasts, 1 to 2-30, 000 mother cells. These nucleated erythrocytes exhibit surface antigens such as glycophorin A, CD-71, CD36, Y specific probe and hemoglobin F. Using these markers, we tried to isolate fetal fells using magnetic beads method, lectin method and fluorocytometer methods. We have detected fetal cells and applied to the DNA diagnosis of chromosomal aberrations such as Down syndrome, Aneuploidy syndrome and genetic diseases (Gaucher, Fabry disease)(1) Isolation method of fetal cells from maternal blood :Fctal nucleated cells were isolated from 20 ml pregnant mothers which we obtained informed consent. Using lectin column, magnetic beads column, and fluorocytometry methods, we could isolated fetal nucleated cells. Furthermore, using D18S474 microsatelite marker, we could demonstrated male fetal cells from maternal blood. Furthermore, usi … More ng cDNA micro array method, we tried to study mNA expression in fetal single cells. The results suggest we need more cells to demonstrate.(2) Chromosomal disorders for DNA diagnosis by fetal cells We attempt to demonstrate to give a DNA diagnosis of Down syndrome and aneuploidy syndrome by maternal blood. In order to give a diagnosis these disorders, first we attempted to determine pathogenesis of Aneuploidy syndrome. Several data suggest that This disorder is caused by gene defect in spindle assembly checkpoints.(3) Genetic disorders by DNA diagnosis by fetal cells :We attempted to determine DNA diagnosis in Japanese patients with Gaucher and Fabry disease. We determined the common mutations in Japanese Gaucher disease as follows : L444P, 32%, F2 1 3 I, 17%, D409H, 5.2%, ecNcl, 4.2%. In other hand, Several mutations in Fabry disease from Japanese patients were follows ; L 1 6 H, A37Vm W209X, 342Q, IVS1-1, IVS5-2, IVS5-2, IVS6+1 and etc. These results could be applied for prenatal diagnosis by maternal blood. Less