Abstract
Our 10-year (1984-1993) study of prenatal diagnosis in hemophilia (total 83 cases, A 70 and B 13) and its prospects are described. First, the clients who were going to have a child were interviewed by an experienced genetic counselor. Second, the patient in each client family was exactly rediagnosed. Third, the woman who was going to get or had got pregnant was diagnosed whether she was a carrier or not. Fourth, the fetal sex was determined by CVS (chorionic villus sampling) during the first trimester or by amniocentesis during the second trimester. Finally, direct diagnosis of hemophilia was performed in all male fetuses. Sex diagnosis of 41 fetuses in the first trimester was performed by CVS. Prenatal diagnosis of hemophilia in 16 male fetuses was followed by RFLPs (restriction fragment length polymorphisms) analysis using Southern blot or PCR technique in the first trimester, or by fetal blood sampling in the second trimester. Sex diagnosis of 42 fetuses in the second trimester was performed by amniocentesis. Prenatal diagnosis of hemophilia in 29 male fetuses was followed by fetal blood sampling and FVIII/FIX determination. In the latter series, 2 fetuses had been once diagnosed as non-affected at the time of fetal blood detrermination, then went to term. These newborns, however, were identified as hemophilia. In both series all female fetuses (36 cases) went to term. In the near future, prenatal diagnosis of hemophilia will probably proceed to newer stage based on direct gene analysis using CVS and/or maternal peripheral blood sorting.
