Hemophilia is a disease of inheritance. Therefore genetic counseling and prenatal diagnosis are important measures to help people.
Genetic counseling helps people with hemophilia, carriers, and their families make more informed choices about having children where there is a possibility of having a child with hemophilia. It includes a wide range of tests for diagnostic and carrier detection, as well as individual counseling.
Prenatal diagnosis is usually offered when termination of the pregnancy would be considered if an affected fetus was identified. However, it may also be done for helping the family to be prepared and for planning delivery. Assisted delivery is best avoided if the fetus has hemophilia.
Prenatal diagnosis is done by following tests
Chorionic villous sampling
Chorionic Villous Sampling or biopsy, is the main method of prenatal diagnosis and can be done earliest at 10-11 weeks of gestation. It is avoided before this period as it may cause with fetal limb abnormalities.
Amniocentesis is another procedure can be done at 12-15 of weeks of gestation and involves withdrawal of amniotic fluid.
All invasive methods used for prenatal diagnosis may cause feto-maternal hemorrhage, and anti-D immunoglobulin should be given if the mother is Rh D negative.
These procedures are carried out early in a pregnancy before the factor VIII level has risen significantly, hemostatic support may be required to prevent maternal bleeding, if the maternal levels are below 50%.
