Hemophilia Carriers Voice Need for Better Pregnancy, Childbirth Care
Women who are carriers for hemophilia — meaning they can pass the disease-causing mutation to their children — think a more individually tailored, information-rich healthcare approach could improve the experience of getting or being pregnant, a small study found.
“Healthcare professionals could use these insights to adapt their consultations to meet the needs of these women when they are preparing for having children,” its authors suggested.
The study, “A qualitative study on the experiences of haemophilia carriers before, during and after pregnancy,” was published in the journal Haemophilia by a team of researchers in the Netherlands.
Women are identified as carriers if they have a hemophilia-causing mutation in a gene (typically, F8 for hemophilia A, and F9 for hemophilia B) on one of their X chromosomes. They may have mild bleeding symptoms due to low levels of some clotting factor proteins needed for proper blood clotting, but they do not have a bleeding disorder.
For women wanting to conceive, doctors consider it important that they know of their carrier status to best ensure a healthy pregnancy and a safe delivery.
Genetic counseling is also recommended for carriers, as they could give birth to a child with hemophilia. This “complicates reproductive decision-making and introduces additional choices, including preimplantation genetic diagnosis, prenatal diagnostics and termination of pregnancy,” the researchers wrote, adding that few studies have focused on relationship between hemophilia carrier status and reproductive choices.
Through face-to-face group discussions and phone interviews, researchers collected and evaluated the experiences of hemophilia carriers before, during, and after pregnancy.
Their study included 15 women, all hemophilia carriers who had gone through childbirth within the previous five years. The group’s median age was 33. Over the first two months of 2020, 11 participated in three focus group discussions, each lasting about two hours, and four were interviewed.
Five main themes emerged: communication by healthcare professionals, lack of knowledge, insecurity, autonomy, and family experiences with hemophilia.
Most of these women believed that each of the four reproductive phases — preconception, pregnancy, childbirth, and postpartum — could benefit from certain improvements. These included timely access to comprehensive information during each phase, and a healthcare approach tailored to suit a family’s experience with hemophilia.
“The perceived severity of haemophilia and the coping of family members strongly influences reproductive choices,” the researchers noted.
Women also considered that their various choices, such as learning of the baby’s sex, deciding to undergo prenatal screening, or terminating a pregnancy, should be accepted and understood by doctors.
“I felt like I had to defend myself that I did not want to undergo that test. And actually, during each conversation with a doctor I was told, you haven’t done that test right? Why not? So during each consultation I had to say that again,” one woman said.
To prevent women from being placed in this situation, “these decisions, together with general care plans, should be carefully noted and shared with involved clinicians,” the researchers wrote.
A main concern during delivery was the baby’s health, including the risk of bleeding in both boys and girls.
For the mother, “a detailed delivery plan including prophylaxis and anaesthetic pain management” should be shared among “all involved clinicians (midwife, gynaecologist, haematologist and anaesthetist),” the researchers wrote.
After birth, women felt that diagnostic testing of their baby was stressful, but should be done as early as possible.
“Future efforts to improve haemophilia care should be aimed at constructing accessible educational strategies and information transfer for involved clinicians and families with haemophilia,” the researchers concluded.