We lost a son at 21 weeks due to multiple fetal anomalies. We were told by a genetics counselor that, more than likely, this was a fluke due to caudal dysgenesis, but she also discussed the possibility of a translocated chromosome. Our OB suggested we forego any blood tests until the next pregnancy. I miscarried three months later at just barely five weeks. Do you think this is a translocated chromosome problem, and is it likely we will ever have healthy children? We aren't sure we can afford the blood tests or the treatment.
Caudal dysgenesis, also known as caudal regression syndrome, occurs sporadically and in women with high blood sugar levels due to diabetes. I am unaware of any data linking chromosome translocations with caudal dysgenesis.
A translocation occurs when pieces from two different chromosomes break off, switch places, and then reattach to the new chromosome. The chromosome pieces that switch can be large or small. The larger the piece the more likely it can be detected on a routine chromosomal analysis. Small ones may be detectable with other types of tests but usually you have to know what you are looking for.
Therefore, a routine chromosome test on you and your husband is unlikely to find a cause for caudal dysgenesis.
Most miscarriages are due to a fetus having an incorrect number of chromosomes. The normal amount of chromosomes is 23 pairs for a total of 46. Many fetuses that miscarry may have one extra or missing chromosome.
About 1 percent of couples can have recurrent miscarriage which is defined as three or more losses. In this group of patients, about 4 to 5 percent of them, one of the partners can be found to have a chromosome translocation. Although not impossible, the chance for finding a translocation in you or your husband is probably no greater than you would find in the general population.