Immunological, Biological and Molecular Genetic Study on Prenatal Diagnosis of Hemophilia

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1) Carrier detection(1) Clotting and immunochemical diagnosis ; It was confirmed that FVIII : C, FVIII : Ag and vWF : Ag were useful for carrier detection of hemophilia A, and that FIX : C, FIX : Ag and ox brain PT were useful for that of hemophilia B.(2) Restriction fragment length polymorphism (RFLP) ; BcII/intron 18 (frequency 27-30%) and XbaI/intron22 (67%) polymorphism in the FVIII locus were useful for carrier detection of hemophilia A. SstI/pX58dIIIc (frequency 40%) and TaqI/pX45h (30%) polymorphism closely to the FIX gene were useful for hat of hemophilia B.2) Sex diagnosis(1) First trimester diagnosis by chorionic villus sampling (CVS) Sex diagnosis was achieved at 9-11 weeks of gestation by the use of RFLP of EcoRI/DYZ1 (Y-chromosome specific gene probe).(2) Second trimester diagnosis by amniocentesis ; Sex diagnosis was also performed by chromosome analysis of amniotic fluid cells.(3) Prenatal diagnosis of hemophilia A by fetal blood sampling10 female fetuses out of 33 fetus … More es went to term uneventfully. For accurate mid-trimester prenatal diagnosis, fetal liver or cord blood from 23 male fetuses at 50% risk was sampled using a needle guided by ultrasound. FVIII : C and FVIII : Ag in the fetal plasma were assayed. Then, 6 affected fetuse were artificially aborted and the remaining 17 fetuses went to term.4) Prenatal diagnosis of hemophilia A by CVSFor accurate first-trimester prenatal diagnosis CVS from 9 fetuses at 25% risk was performed. According to RFLP analysis, 3 cases of 6 female fetuses were carrier and 3 cases were not carrier. Both of them went to term. Two out of the remaining 3 male fetuses were found to be affected and aborted. One was not affected and went to term.5) Prenatal diagnosis of hemophilia BEleven fetuses of 6 carriers were investigated. Four were female and went to term. Three of 7 male fetuses were aborted without prenatal diagnosis. Two of the 4 male fetuses were diagnosed to be affected and aborted, whereas the remaining 2 were not affected and went to term. One woman gave birth to a normal male, however, the other gave birth to hemophilia B patient. This was an only one case of wrong diagnosis. Less