Testing for Genetic Abnormalities

It is not especially unusual for multiple miscarriages to follow the finding of abnormal genetics in the fetus. Where these abnormalities are a recurrent problem, it may be found that they are due to unbalanced translocations. This is where parts of chromosomes break off and attach to each other, but there is not an equal exchange. Parents that carry balanced translocations are at higher risk for this. Of course, all losses should be tested for genetic abnormalities because eliminating this issue allows us to focus on others as the cause. If the loss is diagnosed as female by genetic studies, it is important to also run a Maternal Contamination Screen to compare the mother's genetics to the loss and ensure the results are not falsely reported as normal because the specimen was contaminated with the mothers own tissue. The reports of normal a female without the MCS is of little value.

When patients come to us who have not had testing done on their losses, we conduct genetic testing of both parents to determine if they are carrying defects in their chromosomes.(balanced translocations) Even if this is the case, most of these couples ultimately conceive with patience, with thorough testing allowing us to rule out any other issues. Another aspect of testing that patients have often run into by the time they come to see us has to do with pre-implantation genetic diagnosis (PGD). This is used in cases of IVF and tests embryos prior to implantation.

The risk of this action, however, is that embryos which show abnormalities may be able to autocorrect themselves and proceed into a normal pregnancy. Some patients are told that most or all of their embryos were abnormal and thus have very few or none to transfer. Our approach is to effect as many transfers as possible then have successful implantations tested with CVS, a prenatal test for defects with much higher accuracy than PGD. We have had much success helping patients with this method. It should be pointed out that patients who understand the loss of normal embryos but are still committed to only transferring normal embryos will still benefit from PGD or new methods of screening such as array CGH.

Determining Miscarriage Causes and Preventing RPL

Dr. Jeffery Braverman and his team are dedicated to helping you find the real cause of your failure to conceive or successfully complete a pregnancy. Another problem we have observed is that in many cases, IVF patients have been told that translocation was the issue when it was not. We are sure to give you a complete workup of tests as needed, in the correct sequence so that we may work most effectively in helping you with your goals.

Contact Dr. Braverman for help with accurate testing for genetic abnormalities and a tailored program to address what is found.