Question: I am a female with factor XI (11) deficiency (haemophilia C) and at the stage of pre-pregnancy planning. Is it recommended to get genetic testing and what is the safest delivery method?
If you have a bleeding disorder, pre-planning before pregnancy is important. A first step would be to make an appointment with your Haemophilia Treatment Centre (HTC) to discuss special issues around factor XI (11) deficiency during pregnancy and childbirth. If you would like to have genetic counselling, it would also be valuable to have this before you become pregnant. If you are not already a registered patient with the HTC, you may need a referral from your GP.
Genetic testing is an individual decision. The best case scenario is to talk to your HTC team before you are pregnant about the risk that your baby might have factor XI deficiency. They can explain inheritance patterns and discuss genetic testing options for your unborn baby.
You can be referred to a genetic counsellor if there are questions that you and your partner would like to think through before proceeding with pregnancy and testing. The genetic counselling service will provide up-to-date information on options for IVF and pre implantation genetic diagnosis (testing an embryo for haemophilia when using IVF), testing during pregnancy, etc. If you are already pregnant, you may be able to have an urgent referral to genetic counselling and they can help facilitate earlier access to genetic testing. Depending on where you live, there may be costs involved with genetic testing.
There are two steps in genetic testing:
- Your genetic test: you would need to have a blood test to determine the gene mutation in your family. Once this is identified, it can be used to identify the mutation in your baby.
- Genetic testing of your unborn baby: Collecting a sample for would involve a test such as amniocentesis or chorionic villus sampling (CVS), with a procedure where fluid or a small amount of tissue is taken for testing. Ask your haematologist if there needs to be any special care for you and your baby with having these procedures.
Another important aspect is for your HTC and obstetric teams to liaise with each other and plan a safe delivery for you and your baby with you. As you have a bleeding disorder, you will be considered to have a ‘high risk pregnancy’. Care for this involves delivery in a hospital with specialist services such as haematology and paediatric services.
there will be considerations around keeping you safe and preventing bleeding during and after childbirth, which may include a treatment plan from your haematologist as well as a plan to manage your delivery. Unless there are obstetric reasons, your HTC would recommend normal vaginal delivery, but there would be a quick recourse to caesarean section if the labour is prolonged.
For your baby:
A safe delivery plan for the baby would also be put in place with recommendations to prevent potential bleeding in your baby. It is always assumed that the baby has a bleeding disorder until proven otherwise.
For more information, including inheritance patterns, see
Janine Furmedge, Haemophilia Nurse Co-ordinator, Henry Ekert Haemophilia Treatment Centre, Melbourne
Anne Jackson, Nurse Consultant-Haemophilia, The Michael Rice Centre for Haematology/Oncology, Adelaide
Penny McCarthy, Clinical Nurse Consultant, Ronald Sawers Haemophilia Centre, Melbourne
Edited by: Suzanne O'Callaghan, HFA Policy Research and Education Manager
Answered by: Nurses