Expecting more: the case for incorporating fertility services into comprehensive sickle cell disease care

Abstract

Assisted reproductive technologies (ART) are not yet systematically available to people with sickle cell disease or their parents. Fertility care for these groups requires addressing sickle cell disease-associated infertility risks, fertility preservation options, pregnancy possibilities and outcomes, and, when needed, infertility treatment. People with a chance of having a child with sickle cell disease can use in-vitro fertilisation with preimplantation genetic testing to conceive a child unaffected by sickle cell disease. Also, parents of children with sickle cell disease can use this technology to identify embryos to become potential future matched sibling donors for stem cell transplant. In the USA, disparities in fertility care for the sickle cell disease community are especially stark. Universal screening of newborn babies' identifies sickle cell disease and sickle cell trait, guidelines direct preconception genetic carrier screening, and standard-of-care fertility preserving options exist. However, potentially transformative treatments and cures for patients with sickle cell disease are not used due to iatrogenic infertility concerns. In diversely resourced care settings, obstacles to providing fertility care to people affected by sickle cell disease persist. In this Viewpoint, we contend that fertility care should be incorporated into the comprehensive care model for sickle cell disease, supporting alignment of treatment goals with reproductive life plans and delivering on the promise of individualised high-quality care for people with sickle cell disease and their families. We consider the obligation to provide fertility care in light of medical evidence, with acknowledgment of formidable obstacles to optimising care, and powerful historical and ethical considerations.

Figure 1

Assisted reproductive technologies (ART) use for people with sickle cell disease and their families ART might be used for fertility preservation, infertility treatment, by LGBTQ couples, and for preimplantation genetic testing. (1) Sperm, eggs, ovarian tissue, and embryos can be cryopreserved as care standards whereas testicular tissue cryopreservation is experimental. (2) Embryos are made by in-vitro fertilization (IVF) at the time of fertility preservation or gametes can be used to generate embryos via IVF once pregnancy is desired. (3) Embryos can be stored, or (4) sampled for testing to assess aneuploidy, for monogenetic diseases such as sickle cell disease, or for haploidentical matching with sibling before (5) introduction to the uterus.

Figure 2

Optimizing health and reproductive opportunities for people with sickle cell disease