Prenatal Diagnosis of Classic Hemophilia

Abstract

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.

First trimester prenatal diagnosis of haemophilia a using factor VIII gene probe

“…The prenatal diagnosis of haemophilia A based on the measurement of F.VIII in fetal blood obtained by fetoscopy is made in the second trimester (Mibashan et aI., 1979;Firshein et al, 1979). Between 1985 and1988, ten pregnancies were evaluated in our department using a new and safer procedure for fetal blood sampling: ultrasound-guided fetal liver puncture (Koresawa et al, 1987).…”

“…Until recently prenatal diagnosis of haemophilia A has been carried out by conventional measurement of factor VIII procoagulant activity (F.ViII:C) as well as antigen (F.VIII:Ag) of fetal plasma between the 18th and 21st weeks of gestation (Mibashan et al, 1979;Firshein et al, 1979). This type of prenatal diagnosis in the second trimester may associate with a risk of fetal mortality and lead to late termination of pregnancy in affected cases.…”

Using Factor VII in Hemophilia Gene Therapy

“…rFVIII clotting index is lower than of derived plasma one (Goldenberg et al, 2006). Firshein and colleagues were diagnosed prenatal hemophilia A using radioimmunometric by fetal plasma and fetoscope by amniotic fluid at second trimester in pregnancy women (Firshein et al, 1979), other researchers were developed radoimmunometric method for measurements of FVIII antibody (Hoyer et al, 1985;Hellings et al, 1982;Ljung R, Holmberg, 1982). Antonarakis et al were analyzed FVIII gene for possibility detection of prenatal and hemophilia carrier through gene cloning method (Antonarakis et al, 1985), the problems and limitations of these methods were evaluated by other researchers (Graham et al, 1985).…”

Le diagnostic prénatal : interprétation culturelle et réflexions éthiques

“…L'idéologie de mise à part propre à la science classique isole l'être humain dans le monde : « S'il accepte ce message dans notre entière signification, il faut bien que l'Homme enfin se réveille de son rêve millénaire pour découvrir sa totale solitude, son étrangeté radicale 5 '. » Au contraire, dans le cadre de l'interprétation proposée, l'être humain ne se sépare plus de la nature : il en est solidaire.…”

“…Bientôt, un nouveau test rendra possible le dépistage de la fibrose kystique 4 . Déjà, certaines formes d'hémophilie peuvent être diagnostiquées 5 . L'augmentation des possibilités s'explique, entre autres, par le progrès de l'analyse biochimique des maladies innées du métabolisme.…”