Abstract Number: PB0595
Meeting: ISTH 2020 Congress
Background: No genetic defects are found in the coagulation factor VIII gene of approximately 2% of patients with hemophilia A by routine DNA analysis. It confers a big challenge in genetic counseling and prenatal diagnosis for fetus, whose mother gave birth to children with hemophilia A or might be carrier of hemophilia A based on linkage analysis with genetic markers.
Aims: We aim to make a better strategy for the prenatal diagnosis for fetuses, whose mothers were carriers without confirmed genetic defects.
Methods: From 2010 to 2019, 57 cases of hemophilia A carriers, without confirmed genetic defects by routine DNA analysis, were performed prenatal diagnosis for fetuses. All fetuses were detected by linkage analysis utilizing five microsatellite markers. Additionally, FVIII:C level in cord blood of three male fetuses diagnosed to be genetical hemophilia A patients were evaluated.
Results: 18 fetuses were diagnosed as genetical hemophilia A patients, and 8 fetuses were carriers of hemophilia A. 18 male fetuses and 14 female fetuses were genetical normal. In the FVIII clotting activity assay, the FVIII:C level was less than 1% in two of the there male fetuses. The FVIII:C level was 55% in the other one male fetus and for one year’s follow up he was doing normal. In one year’s follow up, the coagulation was normal in all of the 18 male fetuses diagnosed as genetical normal.
Conclusions: The combination of linkage analysis and evaluation of FVIII:C level in fetuses may be an efficient way to prevent the birth of children with hemophilia A, and makes an alternative strategy for those pregnant carriers with the urgent requirement of prenatal diagnosis for fetus but with no genetic defect found.
To cite this abstract in AMA style:Li Y, Jin W, Li Q, Li L. A Strategy for the Prenatal Diagnosis for Fetus with Hemophilia A without Genetic Defects [abstract]. Res Pract Thromb Haemost. 2020; 4 (Suppl 1). https://abstracts.isth.org/abstract/a-strategy-for-the-prenatal-diagnosis-for-fetus-with-hemophilia-a-without-genetic-defects/. Accessed February 27, 2024.
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