Genetic Testing

newfie69

anyone else waiting fir the second part of their results to see if they are a genetic Translocator?

twointow83

Me The waiting is driving me NUTS!

twointow83

I know they look at all chromosomes, but which is of particular interest in your case? My geneticist said that if we are the carrier of translocation, given we lost out most recent loss to Trisomy 22, the error for me and/or hubby would likely involve chromosome 22. When did you do your test? do you have much longer to wait? We did ours last Thursday so we still have awhile before we get results

I feel like I have been waiting since May 1st. First to see the doc as he was out of town the day of the u/s. Then for my D&C, then for the analysis on the baby's tissues and now I am waiting on the autoimmune test results and Hubby and I's chromosome analysis... Just ready to be done waiting

newfie69

Yup! We went for 12 week ultrasound and baby had high nuchal fold plus my blood work came back 1-50 for DS. We had a cvs the next day. Results came back last Wednesday for die syndrome. We had the D&c Friday. They are still testing for the genetic aspect of it. Sooooo worried I'm a Translocator carrier.

twointow83

Yeah, me too As worried as I am that it might be me, I think it worries DH even more that it might be him. He isn't very vocal about much but I know him pretty well. He wants a girl so bad he can taste it and if it comes back that he has a translocation he will blame himself for us losing our first daughter. All I know is I am going stir crazy waiting on the results. What-ifs irritate me and that is all I do lately. What if it's him? What if it's me? What if it's both of us? What if this means we can't TTC(we don't have $15,000 lying around for IVF w/ PGD or $20-$40,000 for adoption so no TTC means no more babies)? What if this? What if that? It's enough to drive ya crazy lol. I was told about 2 weeks for results which means just over a week left. It's like, enough questions, I need the answers STAT, lol. At least that way we know where we stand, and if we are going to TTC again or just accept that our family is as complete as it will ever be. *Sigh* It's nice to have someone to wait with though

If it's not too nosy, what prompted you to get a CVS? Just the blood work (admittedly I have NO clue what the 1-50 means or what a nuchal fold is)? Is this your first loss? And WOW they got you in fast for your D&C! I had to wait a week! Also, I tried to look up die syndrome and nothing came up.... what is it?

newfie69

So I went for blood work for Down syndrome, it came back 1-50. They said that was kinda high so they wanted to check fur fluid around the head. I went fur ultrasound and the fluid was high, 4.6. I think normal is less than 2mm. So this then changed my chances from 1/50 to 1/4. I went fur a cvs the next day as this gives a definite answer. It came back positive fur down syndrome. We had the cvs the next day. So I too should get my genetic testing results next Friday.

newfie69

What is your email? Maybe we can chat that way?

twointow83

Sorry, I prefer not to give my e-mail out I used to a long time ago and lets just say that there were a few people that made me regret it... Nothing personal, I just don't give my e-mail out anymore.

As in June 5th? That is when I am expecting my results as well. Sometimes I swear the days are getting longer and longer just to make sure I wait as long as possible, lol. I am binge watching netflix as that usually speeds time up when I am trying to kill time but this time it isn't working. I feel like our future hangs on the test results, so it is probably my own fault for putting so much into this test, but when we don't know  if we can TTC safely or if there is an increased chance of repeated losses.... I have survived 2, but I don't know if I could live with loss after loss after loss, and so on. As if the loss wasn't bad enough, the fact that we found out this one was finally our girl was a kick in the gut... we need some good news. Sooner than later. Now works for me, lol Unfortunately it has only been a week and it took 14 actual days and  10 business days to get the results back for Kendall's (her name) testing so getting results today is about as likely as me growing a third ear today

newfie69

Any word on results yet?

twointow83

Lol, the irony... I was just about to post and ask you the same question. To answer yours- nope and it is driving me nuts. results are due any day now and I spend WAY too much of my time staring at my phone willing them to call and nothing. Technically, Thursday(supposed to call this day if I haven't heard anything so they can call and see about how long it will be for results), or Friday( the 10 business day mark), is supposed to be the big day but I am praying they will call tomorrow. I don't know how much longer I can live in suspense So what about you? Anything??

twointow83

Well, we have half an answer. DH's chromosomes are fine. Still waiting on mine though

newfie69

Wow! Phew !

newfie69

No and I'm not calling.

twointow83

How do you stand the wait?? You must be far more patient... or much less worried than I was.

My results are in... I'm chromosomally normal. Phew... I've always prided myself on being unique but I have never been so happy to hear someone call me normal in my life, lol.  )

newfie69

Yay! That's awesome news. I didn't want to ruin my weekend so I'm waiting to call in Monday.

newfie69

Btw- how long ago did you have your D&c and may I ask how old you are?

twointow83

I found out on a Friday that the baby had quit growing a few days prior and had no heartbeat. I didn't get a D&C until the following Thursday. I am 31.

I have to wait until tomorrow or Tuesday to get the full details of the test, but I don't care. I just wanted to know that everything is ok with Hubby and I so that we could either know we were done TTC and come to terms with that (if the results had been bad) or gear up to TTC once AF arrives. I am a planner and I don't do well with major unknowns that can alter the course we had planned. If things happen, ok, I deal, but just dangling in in a void of the unknown is, for me, like torture. So, knowing the answer to the big question is what I was worried about... the small details- eh... not so worried about them.

newfie69

Hey there. Just wanted to check in to see how you made out.