I am 14 weeks pregnant today. This last Tuesday I went in for a ultra sound and I was told that the fluid in the back of my babies neck was too high. I was told it was a 5.9 where normal is a 3 or less. They told me this means my baby is at great risk for Down syndrome, Turners disease or a heart defect. I am terrified. I went straight into get a procedure done called CVS to test the baby. I am now "patently" awaiting my results which they say should be in no later than this coming up wed. I have been a wreck and feel like im losing my mind as I wait. Has anyone had this happen and if so any positive feed back would be greatly appreciated.
I would like to update everyone on my results, as well as thank everyone for the support, advice, and concern for me and my family. We are happy to anounce that the test results came back as NEGATIVE for downs and turners disease. We are just thrilled! We still are not complety out of the wood for all issuses but I am at peace with the knowledge we do have and truely believe my BABY GIRL! will be just perfect!!! Thank you all again for EVERYTHING I could not feel more blessed!
Recently a friend went in for some test and they told her something similar. She went for some secondary test and they said no, everything is fine.
Hoping the best for you as well!
I have not been where you are, but I have been in a position where I had to wait to find out if my son would be diagnosed with something potentially devastating when he was 6 months old. I know the heartache and pain of
"the wait" and the feeling that you are going to go crazy. Thankfully our news was good, but it was the longest month of my life waiting for our appointment, and every year when it's re-check time, the anxiety returns.
I wish I could give you reassurance or more information, but all I can offer is an ear to hear and a shoulder to lean on and to let you know that you will survive through this even as your heart breaks now. I will pray for you and your family that you receive good news with your results of the CVS and for peace and healing if you don't.
Sending some hugs.
Hello, I can't tell you about the tests, but I can say that my daughter gave birth to a little girl who ended up having Down's Syndrome. I also know that there are many false postives in these tests. I have to tell you that my granddaughter is 2 1/2 now and is the love of our lives and when we go anywhere, people are drawn to her. She is adorable, smart, affectionate and has a great sense of humor. Hopefully, your child will be okay and not have this. However, if she or he does, it is not the end of your life, it is the beginning of a new chapter.
There are so many resources out there now. Children with Down's Syndrome are achieving many new levels. My little granddaughter goes to a preschool for children with disabilities. She is now a model for other children on how to follow the directions the teacher gives. She is doing so well, that she may not even qualify for the particular school she is at when she reaches three years old. My other daughter and I alternate babysitting when her mother is working. We take her to the school where our other grandchildren have attended (one still is) elementary school and she is with us when we volunteer. The whole school knows her. She is just so adorable. Her big cousins love her sooooo much.
I hope that your tests come out okay and that your baby is okay.
K. K.
I havent had this situation while pregnant, but my oldest daughter, born "healthy", at term & 8.6 lbs.. had these "delays". After much testing, for things unimaginable to me at the time, I was told she had 47, xxx syndrome, which in some ways is similar to turners syndrome & downs syndrome. She was still a lovely child, "grown up" now at 21. We had a lot of supports when she was an infant, infant development workers, speech, occupational & related therapies, and quite a bit of support needed in school. She continues to need professional supports as an adult, but she is happy. Im not sure if I would of "done" anything if I'd known this while pregnant, although I was certainly very interested if my subsequent children would also have the syndrome. (they didnt, it affects 1:1000 or 1:800 births)
Im sure either way, your child will be beautiful and YOURS. Good luck.
Yes. I was 35. Our son had too much fluid and we were told the possibilities. I was a wreck, too. We had dealt with infertility for 7 years and to finally get pregnant after all that heartache and have them tell me that was almost more than I could take. A few months later everything was normal. The same thing happened with one of our twins and we had another complication that occurs with identical twins but they were fine too. Hang in there. I will pray for you.
I have three(!) friends who've had false positives. If you end up with them, of course you'll feel lucky. However, please know that if your baby has Down Syndrome, you'll eventually feel lucky, too. Promise. They are the best people. Funny, sweet, loving, wanting to be loved... and often with a wicked sense of humor.
Here is the blog of a woman who found out at birth that her daughter had Down Syndrome: http://www.kellehampton.com/2010/01/nella-cordelia-birth-...
First don't worry. How old are you? If you are over 35 then you can ask for an amnio and I would do that. That would give you a better result BUT it still won't be definite. I had excess fluid but that is because I KNOW I was carrying twins and one died at 10 weeks. The excess fluid was for her and since she was gone the fluid does not go the ultrasounds that I had also showed in the tests. The doctors just want to you NOT be surprised if anything abnormal does occur. My daughter that was born is fine. She has a droopy eye but other than that she is fine. Hang in there and as hard as it is be patient. 9 months is a long time.
I'm so sorry that you are going through this. I can relate, though my story is slightly different.
Unfortunately there is truly nothing you can do but wait. You really need to do your best to focus on other things, as much as you can-- which is very difficult, I know. But as someone recently said to me, there is no use focusing on the worst-case scenario. If it doesn't happen, then you lived through it for nothing. If it does happen, then you lived through it twice.
I had CVS six weeks ago and the sample tested positive for trisomy 8 mosaicism. There is a laundry list of possible issues associated with that, including mental retardation & heart defects. I was told that the baby may or may not be affected, but that I would have to wait three more weeks, do amnio, then wait another 7-14 days after that for full results. It was agonizing, but after 5 weeks of waiting, the amnio came back normal. I feel very blessed.
Ultrasounds are not a guarantee of anything. They only find "red flags", which often turn out to be nothing.
A friend of mine was told that her baby might have Down's based on the nuchal measurement, but he turned out to be perfectly normal. It does happen.
While I was waiting for test results, I would literally just distract myself every time I started to ponder the worst-case scenario. That is easy for me to do because I have an 11-month old son who is very active. It would have been incredibly difficult if it had happened during my first pregnancy. I had a lot more time on my hands back then, so I worried a lot more about everything.
I hope you can just take care of yourself for the next few days as much as possible!
The waiting and not knowing is the hardest part. I had and AFP test that came back as positive for something called Trisomy 18. Because of that we were sent for genetic counseling, the CVS test and Amnio. It came back that our baby had Turner Syndrome. About 1 in 2500 babies are born with TS. I had never heard of it before and it's very shocking to learn your baby has any kind of abnormality. Our daughter (all Turner Syndrome babies are girls) is now almost four. Overall she is very healthy, none of the heart or kidney defects commonly associated with TS. You can go to www.turnersyndrome.org for information. There is also a Facebook group. I hope this helps. Good luck.
How stressful. I'm saying a prayer for you. Let us know the results.
Yes to both times and we have 3 very healthy girls. It didn't matter to us one way or the other; we would love them regardless.
I had an ultrasound at nine weeks and the doctor saw extra fluid on the brain of the baby. It was clear that something was wrong, and I was scheduled for further testing. I ended up miscarrying about a week and a half later, before we had any more testing done. It was very difficult, especially since I was showing already (would have been baby #4) and we had told most of the people we knew. Anyway, it was my 3rd miscarriage so my dr. recommended that I have genetic testing performed on the tissue from my D&C. We did, and it came back that the baby had Turner's. Although we were very sad to have lost the baby, it was very much a blessing that I miscarried. Very few Turner's babies make it to birth and very few of those that do will make it past infancy. At the time, I was devastated, but now I am very happy that I didn't make it any further into the pregnancy or to full term, only to loose the baby. Obviously, that is only my story and everything could be completely fine for you.
I wish you the best.
