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Cord blood (Family research)



I am currently 8 months pregnant. My nephew has CdLS. Can he benefit from my cord blood? Could the cord blood be donated to the research of CdLS, even if there is currently no benefit to a specific individual?

Answer of our experts

In response to your generous offer to donate some cord blood at the time of your pending delivery, there are really 2 issues: 1) Is there any benefit that can be derived from the cord blood itself in terms of potential future therapies or isolation of stem cells from this sample that would benefit your family member with CdLS?  At this time there is no known benefit to your family member with CdLS.  Currently banking stem cells from cord blood is used primarily to benefit the child that results from the pregnancy in the rare chance that they may need them for therapies related to certain cancers or chemotherapies (e.g. repopulating the bone marrow after treatment for leukemia) - it is hard to know the value of doing this given the rarity of these types of diagnoses and the decision is usually made based on the cost of doing the storage and the potential for needing the stem cells. It is hard to predict what the future will hold in terms of advances in therapeutics for individuals with CdLS, however at this time there is nothing on the immediate horizon that I am aware of that would use stem cells for treatment. 2) Is there any benefit in having a cord blood (or any blood sample) from relatives of an individual with CdLS to help in the research efforts towards identifying the underlying cause? The answer to this is a qualified "yes", but in those families where there are more than one affected individual with CdLS. We routinely ask for samples from parents of children with CdLS because this helps us to see if a change identified in the child with CdLS is a new change or something that was passed on from the parent. With the identification of multiple genes that result in CdLS when changed ("mutated") we now know that 98% of individuals with CdLS have it as a new (or "de novo") change in the gene and as thus is not inherited from a parent.  In that small percent in which CdLS is inherited from a mildly affected parent then it is useful to have samples from immediate and sometimes, second degree relatives, for us to both understand identified changes in the gene as well as to identify new causative genes in those families in which a mutation in one of the known genes has not been found.

IK /TK 7-13-10

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Find other pages that share the same topic as this page diagnosis of CdLS prenatally (before birth)


diagnosis of CdLS prenatally (before birth)

If a prenatal ultrasound scan (sonography) detects features consistent with CdLS, possibilities for prenatal genetic testing should be discussed with the parents.
If a causative gene change has been detected in an earlier child or pregnancy, reliable prenatal diagnostic testing should be discussed with the family. Targeted variant testing can be performed using DNA derived from the placenta or amniotic fluid.

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