Reproductive options considering hemophilia
For individuals with hemophilia—or a family history of hemophilia—there are several reproductive options to consider. It is important to know that there is no right or wrong answer. Reproductive decisions must be made by each woman and/or couple based on their own beliefs, life experiences, or family circumstances.
Many individuals or couples who are genetically predisposed to having a baby with hemophilia might choose natural conception. Natural conception thereby means no medical intervention or choice is made to alter the likelihood of having a hemophilic child.
A man with hemophilia or a woman who is a carrier might opt for gamete donation to avoid passing on their hemophilia-causing gene. This is done by using donated sperm or a donated egg to achieve conception with their partner.
Couples might turn to adoption if they decide they do not want to risk passing on hemophilia to their children and do not want to pursue other reproductive options.
Pre-implantation Genetic Diagnosis (PGD)
PGD is a procedure that allows fertilized embryos to be tested for the presence of the hemophilia-causing gene variant prior to implanting them in the mother. This is similar to going through an IVF infertility procedure, except the embryos implanted in the mother are selected based on genetic test results.
Prenatal diagnosis testing procedures are performed during the pregnancy on tissue surrounding the fetus. The tissue obtained can be tested for the presence or absence of the hemophilia-causing gene variant previously identified in the family.
Prenatal tests are available for women who are known to be carriers of hemophilia. These can help determine your risk of having a child who may have hemophilia or who may be a carrier. It is entirely the patient's choice whether any of these tests are performed, and the IHTC will offer guidance, education and counseling as requested.
Chorionic villus sampling (CVS)
CVS is performed during the first trimester, typically 10-13 weeks into the pregnancy by using an ultrasound and a transvaginal catheter to obtain a sample of tissue on the edge of the placenta. This can also be performed transabdominally using a needle. The risk for miscarriage associated with this procedure is approximately 1% (1/100).
Amniocentesis is typically performed after approximately 15 weeks into the pregnancy and is a process of obtaining a sample of the amniotic fluid surrounding the fetus. This fluid contains cells that can be tested for the familial hemophilia-causing gene variant. The risk for miscarriage associated with this procedure is approximately 0.3% (1/300).
You are encouraged to contact the IHTC’s genetic counselors for more information or if you would like to discuss this with someone.We can also refer you to the appropriate medical providers if you are interested in pursuing a specific option.