PRENATAL DIAGNOSIS OF CLASSIC HEMOPHILIA

Prenatal diagnosis of classic hemophilia (hemophilia A) in mid-trimester was achieved by means of immunoradiometric assays for factor VIII on fetal plasma and amniotic-fluid mixtures obtained by fetoscopy. Samples were analyzed from six male fetuses at risk for severe hemophilia and from nine control fetuses for which fetoscopy was carried out to attempt prenatal diagnosis of other genetic disorders. The factor VIII coagulant-antigen values for the control (non-hemophilic) samples were 17 to 94, and the factor VIII related-antigen concentrations were 50 to 155 U per deciliter. Three of the fetuses at risk for hemophilia had factor VIII values in the control range, and these infants were normal at birth. The other three fetuses had low concentrations of factor VIII coagulant antigen but normal concentrations of factor VIII related antigen. These values and the diagnoses of severe hemophilia were confirmed with blood from the abortuses. (N Engl J Med 300:937–941, 1979) CLASSIC hemophilia (hemophilia A) is an X-linked hereditary bleeding disorder, observed almost exclusively in male patients. Severely affected patients suffer recurrent hemorrhages as a consequence of deficient factor VIII coagulant activity. Treatment consists primarily of replacement therapy with factor VIII preparations. Although home transfusion programs have markedly reduced the frequency of hospital visits, the threat of serious hemorrhage continues to represent an emotional, financial and physical burden for patient and family. With the development of accurate prenatal sex determination, many women who are known or potential carriers of hemophilia have chosen to terminate all pregnancies involving male fetuses, to avoid. © 1979, Massachusetts Medical Society. All rights reserved.