Guidance on fertility in chromosome balanced translocation carriers

  Recently, we have received quite a lot of inquiries about chromosomal balanced translocation carriers combined with embryonic abortions. Of course, for a family who is desperate to have a child, no matter who it is, the presence of such a situation may add some more loss to an already anxious state of mind. Especially if you have had multiple unsuccessful pregnancies, you may have some thoughts of giving up on the pregnancy. What I want to say is that in this case, you should not be anxious, but adjust your mind and do not give up the chance to continue the pregnancy easily.  Chromosomal translocation is a very common change in chromosome structure in the population, where a segment of one chromosome breaks off and runs onto another chromosome, and a segment of the chromosome receiving the segment runs onto the one in front of it. As long as there is no disconnection of genes at the break point, because the total number of chromosomes is not altered by an increase or decrease, the apparent behavior of this part of the population is the same as normal, and it is not a disease. We also call this group of people as chromosome balanced translocation carriers.  In fact, the percentage of chromosomal translocation carriers in the population is as high as 1 in 1,000, which means that for every 500 couples, at least one of them has this condition, either male or female. So, with such a high percentage of cases, if everyone is unable to have children, wouldn’t one out of every 500 couples have to be a solitary old man. In fact, this does not happen at all. And it does not happen.  If one spouse is a balanced chromosome translocation carrier, the germ cells of this spouse (sperm for the man and egg cells for the woman) can form 18 gamete forms during meiosis. In the process of combining with gametes from the other side to form a fertilized egg, theoretically, a fertilized egg can be formed that contains the structures of 18 chromosome forms. Of these, one is a normal chromosomal morphological structure and one is a balanced chromosomal translocation carrier, and only these two types of fertilized eggs can survive. The other 16 types of fertilized eggs are difficult to survive because they contain unbalanced chromosomal morphology, and they manifest clinically as indolent miscarriage, or what we call embryonic arrested development. Because only two of the 18 gametes form a viable fertilized egg, we say that the chance of a normal pregnancy is 2 in 18, or 1 in 9.  Although the chance is one in nine, this chance is random, meaning that each pregnancy may encounter this one in nine. It does not mean that only one in nine pregnancies will result in a pregnancy. Likewise, we do not find that one in 500 couples will definitely fail to have children. If the first pregnancy hits this one in nine, then this group will not get tested for chromosomes and may remain unaware for the rest of their lives that they are chromosomal balanced translocation carriers. In fact, it is only couples who experience miscarriages that go to the hospital to know that one of them is in such a situation, but it is important not to be anxious or discouraged when this happens, and not to talk about giving up so easily. At present, theoretically, the third generation of IVF can achieve normal conception by selecting normal fertilized eggs for implantation through pre-implantation diagnosis, but the actual operation of this method is rather tedious and not easy. The convenient and easy way is to wait for natural conception, and generally persevere. If you can’t do it, you can do IVF.