Prenatal Transplantation for Fetuses With Fanconi Anemia

The investigators aim to evaluate the safety and effectiveness of In Utero Hematopoietic Stem Cell Transplant (IUHSCT) for the treatment of fetuses diagnosed with Fanconi anemia (FA) while in the womb.

Fanconi Anemia (FA) is a genetic disorder known for shortening the lifespans of those diagnosed due to chromosomal fragility that leads to hematopoietic failure (aplastic anemia, myelodysplasia, or leukemia), increased cancer risk, and other possible rare organ dysfunction such as congenital structural anomalies. Importantly, 80-90% of FA patients develop bone marrow failure (BMF) by 12 years of age.

This is a phase I/II clinical trial to demonstrate the safety and efficacy of performing In Utero Hematopoietic Stem Cell Transplantation (IUHSCT) for fetuses affected by FA. The investigators aim to recruit twelve participants with a prenatal diagnosis of FA. Participants will undergo bone marrow harvest and an in utero transfusion combined with maternal stem cells. Transplanting maternal cells into the fetus takes advantage of existing maternal-fetal tolerance during pregnancy. IUHSCT for the fetus takes advantage of the developing fetal immune system to induce tolerance to the transplanted cells without using conditioning or immunosuppression.

The investigators hope to demonstrate that it is safe and effective to perform IUHSCT in fetuses diagnosed with FA. Additionally, the investigators want to demonstrate postnatal chimerism of maternal cells so that, if a bone marrow transplant remains necessary after delivery, conditioning and immune suppression will not be required.