Still waiting for my appt with genetic counselor...

...and my midwife had the report from my sono on Friday and the numbers don't match what I heard

I didn't post anything about it on Friday because I was just crying so much about it, but those of you who are FB friends might have seen it.

I went for my level II and they found three soft markers for Down Syndrome. Dilated kidneys, a spot on the heart and a possibly short femur. I spoke to the sono doctor on the phone since she wasn't there for the actual sono and God forgive me, she has a heavy foreign accent and all I heard was Down Syndrome and then a lot was blurry. I remember her saying my risk was 1:378 and the markers would make it slightly worse, but when I went to the midwife today, she had the actual report and she said the number was 1:280 and the markers would make it worse.

We have an appt with a genetic counselor on Thursday and this week has felt so long and stressful. I know the numbers as not something crazy like 1:10 but I keep feeling like I am not sure anymore.

I keep doubting my inner voice that says all is well, because I feel others have felt confident as well and then had to face the sad truth.

I guess I just need some support and optimism. It took so long to finally get to a point of wanting another child. And last week I was complaining about the partial placenta previa (BTW, the placenta moved out of the way) but now this week has brought scary more permanent things.

I don't want to start a debate about special needs babies so I will just ask for prayers that I don't have to make any difficult decisions.

And we just told DD last week and she is so excited...


I will take sleepless nights, diaper blow outs, spit up and whatever else in excess just to have this baby be healthy and perfect. Please, God, please!

Re: Still waiting for my appt with genetic counselor...

My numbers came back 1:146 and I had an amnio done and was just fine. While I waited for the results, I did a novena to St. Gerard for nine days. I'm so sorry you're going through this...it was the most difficult time in my whole life and I feel like the entire waiting period was just a blur of tears and hysterical crying. I'll pray for you. Be optimistic in the meantime. My sister's baby had a soft marker on her heart and my niece was just fine. Prayers and hugs for you

Re: Still waiting for my appt with genetic counselor...

Re: Still waiting for my appt with genetic counselor...

I'm praying for you that everything is ok!!

Re: Still waiting for my appt with genetic counselor...

You have HOPE that everything will be PERFECT and I will tell you that alone is priceless. You have reason to believe that everything will be fine and we are all praying along with you that it will be!!


I was told bad news at my 16wk appointment and was essentially told that there was absolutely no hope. I went home that day knowing I was losing my baby. I'm not trying at all to compare, but really to show what a blessing it is just to have hope that everything will be fine!!!!!!!!!! I hope you get some good news!!!!!!!!!!!!!!!!! Try to stay positive, and look at the reverse stats. There is a better chance of everything being FINE based on those numbers, than not fine!!!

Re: Still waiting for my appt with genetic counselor...

I had my level II sono last week and I was told that one of my twins had dilated kidneys. My doctor wanted me to see a genetic counselor as well. Of course all I heard from our convo was Down Syndrome. Fortunately, I met with my high risk doctor that evening and he told me that I have nothing to worry about. He told me that dilated kidneys are common for boys and that my baby was one-tenth of a millimeter larger than the norm. He said the baby probably needed to go to the bathroom. Are you having a boy? Sending you lots of .

Re: Still waiting for my appt with genetic counselor...

I'm sorry you have to go through this. I was given a 1 in 50 chance for downs based on my NT test and blood test. Waiting for the amnio was the worst but I tried to think realistically, that its a lot more likely that my LO was fine than not. Don't think about any tough decisions at this point because you most likely won't be faced with making any. There's no point in worrying untill you know for sure if there's a problem.
My results came back negative and my LO is fine.
FM me if you have any questions

Re: Still waiting for my appt with genetic counselor...

just wanted to send some prayers and say that I have also heard of a lot of those markers being present and amnio showing everything was fine. .I hope that you get more info as soon as you can and that you don't have to make any hard decisions!

Re: Still waiting for my appt with genetic counselor...

praying for you!! stay positive!!! im sure its hard, but you have to stay strong!!

will be praying everything is ok!!

Re: Still waiting for my appt with genetic counselor...

Unfortunately, sometimes technology can make what is supposed to be a happy time terribly sad and stressful.

When I went for the fetal echo on the twins I was told they both had a VSD (hole in their heart) and A had pulmonary stenosis (blockage from heart to lung).

I was BESIDE myself. After 2 more very extensive fetal echos they ruled everything out and I am back to having 2 very healthy little girls with perfect hearts!!

Stay positive. And as much as it is hard to allow yourself to trust your gut, go with it. It knows the truth! Mine was telling me all along they were fine. I just needed the doctors to believe me!

Re: Still waiting for my appt with genetic counselor...

I was told by my OB that I had an elevated risk for Fragile X which is the most common form of inherited mental retardation....

I am going to be honest I was nervous and I had flashes of my poor DC being "sick"

But in the end you need to have faith! Pray and just know in your heart that things are going to be okay.

Dont look at google, dont worry about the what ifs at this point. Until you get more info from a trained professional who can really look at the info and your history and give you educated information you will just drive yourself nuts if you do.

PS, ours turned out to be 100% fine.

Re: Still waiting for my appt with genetic counselor...

many prayers for you and your little one.

Re: Still waiting for my appt with genetic counselor...

Re: Still waiting for my appt with genetic counselor...

Many many

Re: Still waiting for my appt with genetic counselor...

OMG.. You poor thing!! I just went thru something similar!!! I got a call telling me that my baby had a 1 in 20 chance for DS.. and I FREAKED. My husband and I were in a trance for a week!!! I did my Amnio on Friday and got the results back yesterday and everything is fine. Don't stress!!! Calm down.. (I know it's easier said then done, but stressing yourself out will not do anyone any good.. especially you and the baby). Just have a positive outlook on things.. and tell yourself that everything is going to be okay!!

I'm praying for you!!! Hopefully you will get some good news!!!

Re: Still waiting for my appt with genetic counselor...

P.S. My dr first told me it was a 1:5 chance.. but as you see.. Drs make mistakes

Re: Still waiting for my appt with genetic counselor...

Thanks for the love, prayers and encouragement. Tomorrow we see the genetic counselor and I feel like this week is moving in slow motion. It is a vacation week for me and normally I would love it if it was slow and felt nice and long, but under the circumstances, I keep feeling like "when will Thursday morning be here?" I just want to see the report and get ready for the amnio so I can start living again.

Last night DH and I watched TV and laughed a bit and I thought I was feeling better but then I felt the baby move and I cried myself to sleep. I just sobbed and DH was trying to hard to be good and supportive and I told him the hardest part for me is that when you are the pg woman you can't just put the baby somewhere and go walk away and get fresh air. That little baby is INSIDE and there is no way to escape for a little while.

And on top of worrying about all the different numbers I heard and getting more and more scared, I keep worrying that even if all is well and my baby is fine, then people will make me into the Boy who cried wolf and will make me out to be someone who overreacted about "nothing".

Keep sending me optimism and good stories

Re: Still waiting for my appt with genetic counselor...

Posted by Juliet



And on top of worrying about all the different numbers I heard and getting more and more scared, I keep worrying that even if all is well and my baby is fine, then people will make me into the Boy who cried wolf and will make me out to be someone who overreacted about "nothing".

Keep sending me optimism and good stories

Re: Still waiting for my appt with genetic counselor...

Stay positive! I know it is hard, but try to only think that everything is going to be ok! I know it is not the same, but at my 20 week, I was told DD had slightly dialted kidneys, and I went to the high risk dr for a sono. He also said the kidneys were slightly dilated, but did not think much of it, and did not seemed concerned. When I followed up w/ my OB he said it is one of the more common false positives that they see. I agree with the PP that technology is not always good b/c it causes us to worry, often for no reason! And like my mom kept pointing out to me, me or my brother could have had the same kidney thing, and she would never have known b/c they didn't do such thorough scans back then, and we were both fine. Good luck tomorrow morning!

Message edited 2/23/2011 10:33:31 PM.