Introduction
Hemophilia A and B are the most common severe bleeding disorders. Improvements in carrier detection and prenatal diagnosis of hemophilia have practical implications for family planning as well as peri- and antenatal pregnancy management. Access to counselling and testing is heterogeneous. We evaluated the awareness and usage of prenatal genetic counselling, sex determination and procedures to determine fetal hemophilia status over time in carriers of hemophilia at our hemophilia treatment centre (HTC).
Methods
Carriers of hemophilia A or B were recruited through our HTC. Research was approved by our institutional ethics board approval. An online link was emailed to participants using Research Electronic Data Capture (REDCap) Clinical Research Unit software. Survey questions explored demographics, family members affected and severity, pregnancy history, awareness and utilization of carrier testing, genetic counselling, prenatal diagnostic technologies and terminations. Responses were analyzed by 2 reviewers for basic statistics and to identify themes in a descriptive qualitative design.
Results & Discussion
85 hemophilia carriers were identified; 3 were lost to follow up and 34 had missing or incorrect contact information. 48 survey invitations were distributed with 24 responses received (50% response rate). One response was excluded as the participant was not a carrier (spontaneous mutation in her son). 20 complete and 3 incomplete responses were analyzed.
Median age was 44 years (28-73), with sons most commonly affected family member (14/23, 61%). 3 participants reported no pregnancies, 2 did not respond and 1 did not list the years of her pregnancies. The majority received genetic counselling from HTC personnel.
Table 1. Awareness and utilization of carrier testing, counselling, pregnancy, prenatal technologies and termination.
* Denominator represents number of responses
**Chorionic villae and/or amniotic fluid testing
Responses were analyzed by year of pregnancy: prior to 2000 (n=8) or after 2000 (n=9). No pregnancy dates were given in 6 responses. 100% of participants with pregnancy after 2000 had carrier testing. The majority also received genetic counselling (n=8). Members of this group had access to and utilized prenatal diagnostic technologies; pre-implantation genetic diagnosis (n=1), early prenatal diagnosis (n=2) or invasive testing (n=4). Rationale given included: more time to prepare emotionally (n=3), optimize delivery management (n=2), and as a consideration to terminate pregnancy (n=1). Overall, there was increased but heterogeneous knowledge of available technologies potentially reflecting limited understanding during or ineffectively timed counselling, or limited knowledge by carriers who had completed their families when these technologies became available.
Identified categories and themes from text responses include:
· Impact of family experience with hemophilia:
o Themes: severely affected family members impact family planning and attitudes about hemophilia, prenatal diagnosis does not prompt termination due to improvements in hemophilia care
· Impact on medical care:
o Themes: early identification may prepare for delivery, concern about overtreatment of carriers during delivery
· Impact on psychosocial well-being:
o Themes: concern about others' opinions, guilt for having more than one affected child
· Need for education:
o Themes: importance of collaboration between HTC and health care providers, HTC as the primary source for hemophilia related information
Study challenges included limited responses precluding statistical analysis and the ability to submit incomplete responses due to sensitive subject matter.
Conclusion
Genetic technologies have shown significant advances and now allow early detection of those with hemophilia, including carriers. However, this study shows that experiences and knowledge of these technologies are still widely varied. As a result, hemophilia carriers may benefit from standardized educational materials which may compliment counselling provided by HTCs and may be useful for multigenerational knowledge dissemination.
Table 1 Table 1.
Disclosures
No relevant conflicts of interest to declare.
Attitudes Toward Prenatal Diagnosis and Pregnancy Management in Carriers of Hemophilia: A Qualitative Analysis Exploring the Views of Carriers in Southern Alberta