Prenatal diagnosis of haemophilia

• 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.

Subject headings

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Hematologi (hsv//swe)

MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Hematology (hsv//eng)

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Pediatrik (hsv//swe)

MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Pediatrics (hsv//eng)

Keyword

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

Publication and Content Type

for (subject category)

ref (subject category)