QuestionDear Dr. Ramirez,
I have had two consecutive pregnancy losses this year (January and July) and both karyotypes came back as 45,X, which apparently is consistent with Turner's Syndrome. When the first result came back in January, my doctors thought it was just a fluke/bad luck and encouraged us to try again. We waited a few months, tried again and had another loss which also had a karyotype of 45,X. How common is it to have 2 in a row with the same defect? What are your suggestions? My husband and I have both been karyotyped and are normal 46,XX and 46,XY.
These are not our only two losses. I had a blighted ovum in March of 2000, a loss at 6wks in November 2001, a normal, heatlhy girl (praise God!) in April of 2003, a loss at 5 weeks in October 2006, and then the two losses mentioned above for a total of 5 losses out of 6 pregnancies! The only other loss we had karyotyped was in 2001 and it came came back as karyotype of 46,XX, but I was told this is inconclusive because it could have been my cells that were tested.
Over my 8 years of losses I have had a lot of testing and have been found to have MTHFR hetero, Prothrombin gene mutation, positive ANA (sometimes), and I have an autoimmune disorder called Raynaud's which I already knew before I ever became pregnant.
I take BA and progesterone suppositories, and with the last two pregnancies was on Arixtra, which is a synthetic form of heparin.
I am currently 30 years old, and my husband is 39. We have no problems TTC - we usually conceive within 3 months. Our miracle daughter is a happy, healthy 5 year old and the pregnancy was pretty uneventful other than a few pre-term contractions.
Please offer me your advice - especially on the statistics of having 2 consecutive losses due to Turner's Syndrome and your thoughts on a treatment that might work, if any! No one can seem to figure out what to do with me or find anything that points strongly to being the cause of my losses.
I hope you can help!
Christina
AnswerDear Christina,
Thank you for your question. Unfortunately, there are no statistics describing the incidence of two consecutive Turner's abnormalities in a normal karyotype couple. I think that it is probably bad luck, in an unusual way. Mutations are common with pregnancies and lead to a fairly high miscarriage rate. The infertility rate is also influences by these chromosomal defects. Most defects are spontaneous and not recurrent.
With your history of recurrent miscarriages, it is most likely that, although your karyotypes are normal, there is spontaneous mutations occurring when the egg divides leading to abnormal embryos.
Although you get pregnant easily, conceiving naturally is unpredictable in your case and can lead to more miscarriages. You certainly can continue trying, but the emotional toll will be high. The medications you are on, which I too use commonly in my recurrent miscarriage patients, are more geared toward women that have autoimmune type miscarriages, not chromosomal abnormality type miscarriages. Therefore, they will not be too beneficial to you. Instead, at this point, the best option would be to do In Vitro Fertilization with Preimplantation Genetic Diagnosis. Eventhough I am not a great fan of this new procedure, because I have seen a decrease in pregnancy rates, it will allow you to screen your embryos and transfer a normal. With your history of getting pregnant easily (i.e. implanting easily), your chances of pregnancy if a normal is transferred into your uterus, would be high. If you don't have a fear of twins, I would transfer two normals.
That is going to be the best way to go for you, albeit also the most expensive. I hope this helps.
Sincerely,
Edward J. Ramirez, M.D.
Executive Medical Director
The Fertility and Gynecology Center
Monterey Bay IVF Program
www.montereybayivf.com
