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LW Hoyer, CA Carta, MS Golbus, JC Hobbins and MJ Mahoney
During the period from 1978 to 1983, 92 pregnancies have been evaluated by
fetoscopy for the prenatal diagnosis of hemophilia A. Satisfactory fetal
plasma samples were obtained in 80 instances and the diagnosis-- or
exclusion--of hemophilia was made by immunoradiometric assay of the factor
VIII coagulant protein (VIII:CAg). The accuracy of the diagnosis
established by fetoscopy has been verified after delivery or termination,
and there have been no misdiagnoses resulting from laboratory error.
Additional evidence for the accuracy of the analysis was the observation
that the frequency of hemophilia in pregnancies of obligate carriers of the
hemophilia gene, and of women whose plasma assays were indicative of the
carrier state, was 29 of 59 fetuses at risk. In one case of cross-reacting
material-positive hemophilia, samples obtained at fetoscopy and from the
newborn infant had normal VIII:CAg levels but the infant had decreased
factor VIII procoagulant activity. There were five fetal deaths resulting
from fetoscopy in 55 pregnancies not intentionally terminated. Although
only a small percentage of pregnant hemophilia carriers in the United
States have elected to undergo fetoscopy for prenatal diagnosis, this
procedure has allowed a number of pregnancies to go to term with delivery
of normal males in families that were not willing to accept the risk of a
hemophilic child. In eight instances, fetoscopic evaluation was sought for
two successive pregnancies.
This article has been cited by other articles:
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| Copyright © 1985 by American Society of Hematology Online ISSN: 1528-0020 | |||||||||
