Do I really need IVF with PGD for possible nondisjunction to have a normal baby? Help!?

Question

I recently went through 3 miscarriages in a row. I am now seeing a reproductive endocrinologist. My first miscarriage was able to be diagnosed with four X chromosomes, extremely rare. The next was very early, the third at 7 weeks, unable to test. I had a chromosomal study done which was normal with the exception of only 20 cells finding a very slight abnormality on the 6th chromosome. I am awaiting a chromosomal study of my husbands. The RE says based on my history I most likely have nondisjunction of chromosomes. I am 80% likely to have further miscarriage and if I want a normal baby I should undergo IVF with preimplantation genetic diagnosis (testing the empbryos for abnormalities).

Now my question is how the heck does he know that I have nondisjunction? And why do other people I know that have had 3 plus miscarriages early on go on to have normal babies on their own? I can't afford IVF with PGD, my insurance doesn't cover it. I feel utterly hopeless. Please help!

Answer 1

I would highly recommend meeting with a genetic counselor, if you haven't already.  They should be able to give you more information about the chance of having another pregnancy with a chromosome change.  You can either ask your doctor for a referral, or you can find a genetic counselor near you at www.nsgc.org.  

Nondisjunction is just when chromosomes don't divide properly, leading to extra or missing chromosomes.  So nondisjunction would have occured either in the egg or sperm cell before your first pregnancy was conceived, leading to the 4 X chromosomes.  (By the way, did they call that "tetraploidy", where you have double the number of all the chromosomes, or was it only the X chromosomes that were involved?)  So nondisjuction is something that happens randomly - it's not something that you have.  Usually, if people have had one pregnancy with extra or missing chromsomes, the chance for it to happen again would be relatively low.  Since your second two pregnancies weren't tested, it's impossible to know if they were related to your first pregnancy loss in any way or if they had a completely different cause.  I would not normally recommend doing PGD just for a history of a pregnancy with four X chromosomes, because the chance of it happening again would be very low, and because it is very expensive.

I can't really comment on what they found on your chromosome analysis (with your 6th chromsome) without more details.  This is why I would really recommend meeting with a genetic counselor so they can research your results and try figure out if it is something that would increase your risk for a chromosome change in future pregnancies or not.

Answer 2

You doctor knows based on testing he performed. Other women may have miscarriages due to other factors and with the right treatment they can achieve normal pregnancy.