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Prenatal diagnosis of haemophilia
1Department of Paediatrics, University of Lund, University Hospital, Malmö, Sweden. Rolf.Ljung@paediatrik.mas.lu.se
Abstract:
Genotype assessment based on direct identification of the pathogenic mutation in a chorionic villi sample obtained in the 11-12th gestational week is the most reliable method for prenatal diagnosis and should be used if available. Genetic linkage studies of polymorphisms should be the second choice in the assessment of carriers and in prenatal diagnosis. Carriers of haemophilia should be offered adequate psychosocial support before, during and after the prenatal diagnostic procedures.