Exploring Preimplantation Genetic Testing for Sickle Cell Disease: A Pathway to Curative Treatment through IVF and HLA Compatibility

Preimplantation Genetic Testing for Sickle Cell Disease: A Path to Curative Treatment

Why Consider Preimplantation Genetic Testing PGT for Patients with Sickle Cell Disease?

Families of children diagnosed with sickle cell disease may seek ways beyond symptomatic management to pursue curative therapies. One promising option is matched sibling donor bone marrow transplantation MSD-BMT, which has proven effective in treating patients with genetic disorders such as sickle cell disease.

When siblings are involved - one with sickle cell disease and the other without, or with sickle cell trt - MSD-BMT offers a potential cure. The child requiring treatment has a brother or sister who may donate bone marrow to save their sibling's life. However, if these two parents have already produced one child with sickle cell disease by natural conception, there is only a 19 chance of having an HLA-compatible sibling.

Preimplantation Genetic Testing PGT offers hope for increasing the chances of conceiving a baby free from sickle cell disease while ensuring compatibility with the existing sibling as a potential donor. involves in-vitro fertilization IVF and PGT, ming to select embryos that do not carry the gene associated with sickle cell disease.

Understanding Preimplantation Genetic Testing

For patients at Children's Hospital of Philadelphia CHOP, collaboration with Penn Medicine facilitates this complex procedure:

• Hormone injections stimulate the ovaries to produce multiple eggs.

• The retrieval process involves a minor surgery for egg removal from the mother.

• Sperm and each egg combine in a lab, often resulting in several embryos that need testing.

• PGT identifies embryos without sickle cell disease and those who are HLA-compatible with their sibling patient.

• The selected embryo is then placed into the uterus. Frozen embryos remn avlable for future use.

Considerations Before Pursuing IVF with PGT

Success Rate: Success varies greatly deping on age; older women face lower chances of successful IVF cycles. Many couples require at least two to three rounds before achieving a healthy pregnancy.

Costs: IVF is an expensive process, typically not covered by insurance policies.

Alternative Treatments: Bone marrow transplants from unrelated donors or experimental gene therapy are viable alternatives with improving outcomes over time. However, these options do not involve the extensive time and financial commitment of PGT-IVF cycles.

Post-Pregnancy Steps If IVF with PGT is Successful

Following birth, families choose to save their infant donor's cord blood for a future bone marrow transplant procedure when the sibling reaches one year old.

Contacting CHOP’s Sickle Cell and Red Blood Disorders Curative Therapy Center CuRED

Learn more about our groundbreaking research and care offered at CuRED by visiting Children’s Hospital of Philadelphia’s official website.

Explore other services like appointments, insurance options, patient resources, and healthcare provider information.

Questions? Feedback? Contact us anytime. We are dedicated to providing the highest quality care for children suffering from sickle cell disease.

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This article is reproduced from: https://www.chop.edu/centers-programs/sickle-cell-and-red-cell-disorders-curative-therapy-center-cured/preimplantation-genetic-testing

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