In-utero hematopoietic stem cell transplantations are a promising approach for the treatment of selected congenital immunodeficiency disorders (i.e. severe combined immunodeficiencies, chronic granulomatous disease, hyperIgM syndrome and others) and hemoglobinopathies (i.e. sickle cell disease and thalassemia). Pregnant women carrying fetuses at risk for these disorders require counseling about the potential for prenatal transplantation to treat their specific disease, and, if appropriate, will require chorionic villous sampling (CVS) at 10 weeks gestation for early prenatal diagnosis. Patients may be referred to the Center for Fetal Diagnosis and Treatment at any time during the process for prediagnostic counseling, prenatal diagnosis or counseling and in-utero stem cell transplantation.
Diseases for which in-utero stem cell transplantations may be considered are generally suspected because of a family history of the disease. In many cases, one or both parents are known carriers of the disease. In all circumstances, a careful family history and genetic counseling should be performed. Information on previous diagnostic evaluations and particularly specific mutational analysis is important. An ultrasound for accurate gestational dating of the pregnancy is critical because of the importance of timing of the transplant for success. In most of these diseases, the diagnosis can be made by genetic analysis of cultured trophoblast cells derived from CVS. In some diseases or families, a specific mutation has not been identified, and diagnosis may rely on biochemical assessment or other functional assays, which may require CVS, amniocentesis or percutaneous fetal blood sampling.
Here is a list of publications regarding in-utero stem cell transplantation prepared by the staff of the Center for Fetal Diagnosis and Treatment at The Children's Hospital of Philadelphia.
Stem cells are introduced percutaneously into fetal peritoneum. © CHOP/CFDT
View larger image »Once a diagnosis is confirmed, the treatment options depend upon the specific disease and must be individualized for a particular fetus. Prior to 24 weeks, the option for termination remains open. In most cases, the only postnatal therapeutic option that is curative is bone marrow transplantation with its associated risks. In a few diseases, postnatal gene therapy, replacement of a specific enzyme or other forms of medical therapy may improve the management of the disease after birth. In selected disorders, in- utero hematopoietic stem cell transplantation is a reasonable option, which should be compared and contrasted with postnatal therapy.
Updated: June 2011