How do I prepare for pregnancy?
With good management, women who carry the gene alteration causing haemophilia gene have no more problems with delivering a healthy baby than other mothers. However, it is very important to plan and prepare as much as possible.
This involves:
- If planning a pregnancy, discussing this with a haemophilia specialist. If discussing family planning, they may refer to a genetic counsellor
- When the pregnancy is confirmed, contacting the Haemophilia Treatment Centre for advice on local obstetric services with experience of haemophilia
- Asking the haemophilia and obstetrics teams to consult with each other to plan for a smooth and safe pregnancy and delivery and care for the newborn
- Checking with the Haemophilia Treatment Centre before having any invasive procedures, such as chorionic villus sampling or amniocentesis
- Discussing suitable choices for anaesthesia, especially an epidural, with the Haemophilia Treatment Centre and obstetrics teams
- A normal vaginal delivery is usually recommended unless there are obstetric complications
- Your HTC and your obstetrics team will work together to prepare a birth plan that is specific to you and your baby.
Identifying the sex of the baby
If a pregnant woman knows she carries the gene alteration causing haemophilia, it is advisable to determine the sex of the baby before birth, preferably with a non-invasive test with minimal risk to the fetus, such as ultrasound.
- A male baby is more likely to be affected by severe haemophilia than a female.
- The woman and her partner can choose if they want to be told the sex of the baby or not before delivery even if the haemophilia and obstetric teams are aware.
- If neither the couple nor the medical staff know the sex of the baby and no other genetic testing of the fetus has been carried out, the pregnancy and birth will be managed as if the baby has haemophilia to ensure the baby is delivered safely.
Testing for haemophilia before birth
For a woman or couples who wish to test for haemophilia before birth, there are two main testing options:
- Prenatal diagnostic testing: a test during the pregnancy to check the sex of the baby. If it is male, further testing can check for the family gene mutation or alteration, which will show if the baby has haemophilia
- IVF with pre-implantation genetic diagnosis (PGD): using IVF technology to test embryos for the family gene alteration, before embryo implantation and pregnancy.
For these options to be available the gene alteration in the family must be known.
Prenatal diagnostic testing to check for the family gene alteration also involves testing with a procedure such as:
- Amniocentesis: testing the amniotic fluid that surrounds the fetus in the uterus
- Chorionic villus sampling (CVS): testing the placenta that connects the fetus to the mother’s uterus.
These tests are invasive and have a small risk for the mother and the fetus.
A genetic counsellor can explore these reproductive options with the woman or the couple in further detail, along with any implications. There can be substantial costs for these tests and procedures, and it is recommended to clarify this and options for support beforehand.
If a pregnant woman has or suspects she has a history of haemophilia in her family and does not know if she carries the gene alteration, it is important to let the obstetrics team know so that they can plan a safe delivery of the baby with the haemophilia team.