Prenatal diagnosis of haemophilia

Research output: Contribution to journalReview articlepeer-review


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.
Original languageEnglish
Pages (from-to)84-87
Number of pages4
Issue number2
Publication statusPublished - 1999 Nov 25

Subject classification (UKÄ)

  • Hematology
  • Pediatrics


  • Factor IX
  • Factor VIII
  • Haemophilia A
  • Haemophilia B
  • Prenatal diagnosis
  • chorion villus sampling
  • diagnostic accuracy
  • DNA polymorphism
  • genetic counseling
  • genetic linkage
  • genotype
  • gestational age
  • hemophilia A
  • hemophilia B
  • heterozygote detection
  • human
  • prenatal diagnosis
  • priority journal
  • short survey
  • social psychology


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