Pregnancy is traditionally a time of elation and joy, but for female carriers of hemophilia, it can sometimes be a period of stress and anxiety. For anyone that is concerned that his or her child may be born with hemophilia, prenatal testing and genetic counseling can help ease this stress.
Since prenatal testing can be done early in the pregnancy, at the 10- to 12-week gestation period, the mother or couple has extra time to educate and prepare themselves and family members about hemophilia. Also, it is important to know your family history before deciding on a prenatal test, since hemophilia is a recessive x-linked trait, meaning the child inherits the trait from the mother. However, out of the all of the male births with Hemophilia A, about one-third may result from a new genetic mutation, which would not be linked to family history. The two most common types of hemophilia, A and B, only occur in boys. Hemophilia C is very rare, but can also occur in girls.
If you are interested in testing, discuss with your obstetrician if you think you are a carrier. If there is no family history of the trait, the best way to approach testing is to find out the sex of the child using an ultrasound at 16 weeks gestation.
If the ultrasound results indicate that the baby is male and there is an extensive history of hemophilia in the family, the next step would be to conduct a chorionic villus sampling or CVS. This test samples membrane that surrounds the developing fetus. There are many other methods available to test for hemophilia, but CVS is capable of being done as early as 11 weeks into a pregnancy, which is much earlier than many other tests.
While testing can sometime be an overwhelming process, many women find consulting with a genetic counselor to be very helpful. A genetic counselor can help guide you through the scientific aspects as well as the emotional issues that can distress many expectant mothers or couples regarding hemophilia. The counselor can help prepare you and your family for a child with hemophilia.
For anyone dealing with issues of hemophilia during pregnancy, there is plenty of time to make proactive decisions. Simple testing and counseling to discuss the process, concerns and therapy options can help alleviate stress and make pregnancy easier for both the mother and child. Contact your local obstetrician for your options.
Sources:
UCSF Medical Center – Hemophilia http://www.ucsfhealth.org/adult/medical_services/blood/hemophilia/conditions/hemophilia/diagnosis.html
UCSF Benioff Children’s Hospital – Hemophilia http://www.ucsfbenioffchildrens.org/conditions/hemophilia/
The Canadian Hemophilia Society – The Diagnosis of Hemophilia http://www.hemophilia.ca/en/bleeding-disorders/hemophilia-a-and-b/the-diagnosis-of-hemophilia/
Thereforyou.com – The Online Hemophilia Source: Hemophilia and Genetics Counseling http://www.thereforyou.com/about-hemophilia/gist-of-genetics/genetics-counseling.html