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Inherited Genetic Diseases Treatable With Stem CellsTreatments

• What are my choices during this pregnancy?
• What will happen after birth?

What are my choices during this pregnancy?

The most important consideration is the accuracy of the diagnosis through genetic counseling about the consequences of that particular inherited stem cell defect. If after full and complete counseling about the defect and its consequences, you choose to continue the pregnancy, you will start planning the proper time and place of delivery for optimal care after birth.

For inherited stem cell defects that cause trouble at birth and require immediate treatment, the place of delivery will be the most important consideration. You may choose to deliver in a center that has special expertise in treating that particular defect. Babies with some types of defects will need support in an intensive care nursery, and may require transfusion with blood, dialysis to cleanse the blood, or even postnatal hematopoietic stem cell transplantation. In some cases, the disease may make the baby vulnerable to infection and thus require special precautions. For some rare diseases, there are only a few centers specialized in the treatment of that disease. 

In some types of inherited genetic defect, intervention before birth may be considered. The reasons to consider intervention before rather than after birth are: 

1. the genetic defect causes ongoing damage to the fetus that can prevented by earlier treatment; and
2. the disease will require hematopoietic stem cell transplantation and this can be better accomplished before birth.  

The potential advantage of stem cell transplantation in utero is to take advantage of fetal immunologic immaturity or tolerance, thus avoiding the need for immunosuppression or myeloablation (destroying some of the bone marrow in order to make room for the new donor bone marrow). Some disadvantages are the risk of the procedure itself, which requires injecting the donor cells into the very small fetal abdomen or bloodstream. There is also the risk of causing infection or of the transplant not working. All these factors must be carefully considered before deciding whether to attempt this novel and presently unproven form of treatment.

What will happen after birth?

Management after birth will depend on the nature of the inherited genetic defect. In many cases, very specialized therapy by experts in that disease is only available at highly specialized tertiary care centers. For many diseases, hematopoietic stem cell transplantation, usually in the form of a bone marrow transplant, will be planned after birth. Often, repeated testing and careful follow-up are necessary to protect the baby until the transplant is performed.

Even when stem cell transplantation has been performed before birth, careful follow-up after birth will be necessary. In some cases, transplantation of stem cells from the same donor may be repeated after birth, taking advantage of the fact that the prenatal transplantation has been used to establish immunologic tolerance to those donor cells.

For many of the inherited genetic defects, it is very helpful for families to get involved with other families caring for babies or children with similar problems. We have provided links to some of these support groups.