Sickle Cell Disease (SCD) is an autosomal recessive hemoglobinopathy affecting 90-100,000 persons in the US and is associated with considerable morbidity and early mortality. Little is known regarding how having a child with SCD affects parents’ future reproductive decisions or acceptability of alternative family planning options.
We conducted semi-structured one-on-one interviews with parents of young children with SCD who are patients at The Children’s Hospital of Philadelphia. Interviews included open-ended questions regarding SCD, thoughts about their child’s SCD, family planning, attitudes about alternative reproductive options to decrease the risk of a future child having SCD (adoption, invitro fertilization with egg/sperm donations (IVFD), or IVF with preimplantation genetic diagnosis (IVF/PGD)), and advice to others. Inclusion criteria included being the biologic parent of a child with SCD, having 1 or 2 children younger than 6 years, and not being pregnant. We chose this time frame since parents may be more likely to be actively deciding on future children. Interviews were digitally recorded, transcribed, and analyzed by 2 reviewers. Interviews were conducted until thematic saturation of content was achieved. Analysis was based on a modified grounded theory.
Twenty parents completed the interview, 18 were female. Twelve had children with SCD 2 years or younger. Fourteen had children with SS-type SCD, with the remaining having SC-type. The mean age of parents was 26.4 years (SD 6.4 years). Thirteen had educational attainment beyond high school. Nine held private medical insurance. Nineteen identified at black or African American. One half (n=10) knew their hemoglobinopathy status prior to pregnancy though only two knew their partner’s status. Four believed it was possible for them to have a child with SCD prior to having children.
Regarding family planning, almost all describe SCD as genetic or inherited. Eight described actively decreasing the number of total children desired and eliminating future planned pregnancies, sighting fear of SCD as the main reason. In general, parents have positive and negative feelings regarding the possibility of SCD in a future child. Positive attributes to having a future child with SCD included the older sibling being a role model or support system and feeling more prepared. Negative attributes included anticipating a sense of regret or irresponsibility.
Knowledge of alternative reproductive options to decrease the risk of SCD in a future child was limited with 5 parents responding with an option in open ended questioning. When asked about specific options, half of parents would consider using adoption, 2 for IVFD, and 11 for IVF/PGD. The most common themes in not considering these options were the desire for a biologic child (adoption, IVFD), fear of parental jealously (IVFD), and ethical and religious concerns (IVF/PGD).
Other prominent themes that emerged included anxiety and hope regarding the future, the normalcy of their child, desire for information prior to pregnancy for others (general SCD information, personal, and partner status), and regret in lack of information known prior to pregnancy.
This study expands our understanding of how having a child with SCD affects parents’ reproductive considerations. In general, there was a lack of knowledge of personal or partner SCD status prior to pregnancy. Many parents expressed a duality of emotion often combining regret for not knowing their status earlier and hope for their child. We noted variable knowledge and acceptance of three alternative reproductive options that could be used to decrease the risk of future children having SCD despite a relatively high number of parents reportedly altering their reproductive plans because of SCD. Parents endorsed the desire for others to gain information earlier to attain fully informed decisions, as for some, this would have altered their prior decisions. Ultimately, families should be able to make informed reproductive decisions and have access to reproductive options, if desired. Future directions include study of parental desires outside of our limited study population and informing opportunities for SCD education, dissemination of newborn screening results, and access to preconception counseling including individual/partner testing, genetic counseling, and alternative reproductive options.
No relevant conflicts of interest to declare.
Asterisk with author names denotes non-ASH members.