High risk for Down Syndrome.

9513 · July 2014

Hi ladies, I found out on Friday that our baby has an increased risk for DS. We then went right out and had the Harmony test done and now it's just. Waiting game. This weekend has been full of emotions. I'm feeling really really sad. I also can't help but second guess myself about the Harmony test, should I have gone straight to the amnio? Have any of you gone through this?

KutiePebbles · July 2014

My 1st trimester screening was 1 in 10k for trisomy 13, 18 and 21. During my anatomy scan, my high risk doctor saw that my son had choroid plexus cysts and slight kidney dilation- which are soft markers for trisomy 18 and 21. Both ended up resolving by 23 wks but I opted for MaterniT21 for reassurance. I could have opted for an amnio but was not comfortable with the risk of miscarriage.

I know an amnio is the most accurate but the blood tests are pretty darn close. My opinion (which might not be helpful) is do what you feel comfortable with. I do not know what your projections are, but if the doctors feel your risk is high and an amnio is the only thing that will ease your mind then go for it. Just make sure to ask a lot of questions and go to a facility that has good credentials and performs amnios often. Facilities that perform the procedure more often have a lower risk of miscarriage- about 1 in 400 compared to 1 in 200.

Best of luck. Let us know what you decide and how it goes

HooptyLisa · July 2014

I just wanted to share a little of our story to hopefully put your mind at ease. I'm 29 weeks pregnant now with two previous losses. At 11 weeks they found a cystic hygroma behind the baby's neck and told us to expect the worse. They gave us an 80% chance we would miscarry again and if we didn't there would almost definitely be something wrong, like Downs. Well here we are in our seventh month and everything is going great. And from what they can tell from the ultrasounds baby looks normal with a very small chance of anything being wrong. Now we chose not to have any invasive testing done because we knew it would not change anything. We were not going to terminate and we will love our baby no matter what. I understand having the tests done to at least prepare you, but I just wanted you to know there are a lot of people out there going through or already been through exactly what you are going through now with lot of positive outcomes. I hope that eases your mind some. Although I know first hand, waiting is the hardest thing to do sometimes.

9513 · July 2014

Thank you both! We are now waiting on the results of the Harmony test and praying for a good outcome. We will take it from there if need be.

jersey75bride · July 2014

I know exactly what you are going through. I had my first trimester screening last Monday. They told me the ultrasound looked fantastic. Two days later I received a call from my doctor and she said my blood results weren't so great. I have low Papp A and HCG levels (proteins for placenta) That and due to the fact that I'm 38 they told me I have a 1 in 16 chance of having a baby with trisomy 13 or 18. Needless to say, I was devastated when I got the news. On Monday we go for genetic counseling and a CVS test. I'm scared to death and can't imagine waiting on the results. They tell me it takes 10 days after the test is performed to get results. I just keep hoping the screening was wrong. Good luck...I am thinking about you.

amtay825 · July 2014

Hope your waiting game is over and you've got your results back. If not, just wanted to share a positive story with you. Everything looked great on our early ultrasounds; but my first tri screening came back as a 1:8 chance of having a baby with downs. With those odds, I was convinced and readied myself for the worst. We chose to have the panorama test after that and it came back with low risk for everything. Ultrasounds still look great in that aspect, though he does have a birth defect it has nothing to do with any of the trisomy's. You can't bank too much on those first tri screening tests, IMO.

lilujenn · July 2014

Hi ! I know what you're going through ! For my daughter our risks were 1 in 35 based on an NT that measured 4.7 ! I did the amneo but the day I did it , all the fluid had re-absorbed itself ! We till worried but our girl was born 100% healthy , no ds or other health problems

let me know how it turned out !

lilujenn · July 2014

Just to clarify , even if it woulda turned out that she had ds we wouldn't have loved her less. We just were afraid of the unknown and doubted our capabilities as parents ... All children are gifts and we are just happy she's here

9513 · July 2014

Thank you all for your support! Thoughts and prayers going to those of you still waiting on results. We found out today that our results from the Harmony test came back normal!! We are breathing easier tonight.

Klaz4143 · August 2014

I am right at the end of my first trimester and I found out last night that I have a 1 in 22 chance of my baby having down syndrome. I am going to talk to my Doctor today about the options for testing. I am so upset by these results and terrified of the outcome. Can't even bare the thought of waiting for these next results.

lawsonellis · September 2014

I am 14w and I found out yesterday that I have a greater than 1:10 chance of LO having Ds. Our NT measured 5.13.

We have to wait until sept 24 to do amniocentesis and genetic counseling so until then we wait.

I'm just trying not to think about it and remind myself that I love my baby now, regardless of the outcome.

T&P to all of you in similar situations!

aliceannalynn · September 2014

I am having twins and last week we were told there is fluid behind the babies neck which is a possibility that it has DS, a heart defect or nothing at all (I am only 10weeks so it is still early) I go for blood work this week and then the NT testing the following week and we will take it from there. This has been very stressful and has consumed my thoughts. At first it just brought me into depression and now I feel positive and hopeful that both of our babies ( not just 1) will be healthy! My thoughts and prayers are with everyone in this post or our situation who has to experience this!

aliandchris · September 2014

So sorry you are going through this! Back in November of 2012, at my 12 week scan, my daughter had an NT measurement of 4.0. I was given a 1/5 chance of having a baby with a chromosomal disorder. I opted for the CVS minutes later because the genetics counselor scared the h*ll out of me. 48 hours later, the initial results for DS, T13, T18 and Turners came back negative. It took 2 weeks to get the full results, which were normal. After having an echocardiogram at 22 weeks (heart defects can cause high NT measurements), we graduated from high risk to just regular risk

My point is, after all this panic, worry and unknown, I now have a happy, healthy 16 month old with no issues. Sometimes knowledge is power but sometimes, it's just a cause for unecessary worry! Thoughts and prayers!

AnnaInman · October 2014

My husband and I found out yesterday that our baby has thick fluid on the neck and just from sono the doc said baby has a 20-30% chance of being normal. That it either had DS or some type of defect. I think the 20-30% chance is crazy! We are waiting on blood work and that takes 7-10 days. Hoping everything comes back normal. I'm freaking out. I'm 33 and this is our first baby.
What is a harmony test?

Kelley110282 · October 2014

We received the difficult news yesterday that we are high risk for our baby to have Downs. The fluid measurement behind the neck was 2.76, and my blood work was off, but I was not given the numbers. I was told today that our odds for a baby with Downs is 1/296. I am 31. I did the MaterniT21 blood work yesterday and now just playing the waiting game for results - we are hoping by Friday. Neither of us can think about anything else right now and are more nervous and anxious than we have ever been in our lives.

apriljm76 · November 2014

I also had my first trimester screen last Thursday and "everything looked perfect." I just received a call that the blood test showed a 1 in 27 for trisomy 21. I opted for the maternit21 test so now we are just waiting and praying.

apriljm76 · November 2014

How were your results?

WilsonG16 · November 2014

My baby has been diagnosed with Turner Syndrome after having a large nuchal reading (8.5mm @ 12 weeks). We went ahead with a CVS although originally I didn't want to due to the increased risk of miscarriage but my partner was adamant he wanted it & after speaking with a friend who had also had it down as her scans showed her little boy was high risk for Downs yet he was born 100% healthy, plus she told me there was only a 1% increased chance. I decided I would rather be prepared if there were any problems. If I had to go through it again in the future, I would opt out of the CVS as regardless of any problems my baby has or would have, I wouldn't want to add to his/her struggle. I wish I had more time to think it over this time round but we only found out there was a problem and then had our next appointment (CVS) within three days. Thankfully, it hasn't affected her - the Doctor let me hear her heartbeat before and after the procedure & after being told at my first appointment (different Hospital) that she probably wouldn't make it to the CVS appointment or my 16th week, it was the best thing I could have heard in that situation. I'm now just over 18 weeks & hopefully she continues to do well! Good luck to you

rachelk18 · November 2014

We were given a 1:12 chance of DS. Waiting for our free cell dna screening to come back, and are seeing our MFM on Monday for a level 2 US and possible amnio. We are 18 w and scared senseless. This baby took forever to conceive, and we are praying for s healthy baby.

mamatr · November 2014

Ugh. Yesterday after my second trimester blood work we were told we are at high risk for down syndrome. Took the Harmony test today. So stressful. Not a fan of the waiting game. Thank you all for sharing and wishing good thoughts for all on this board. .

9513 · November 2014

Thoughts and prayers to all of you

lizrn1975 · November 2014

I'm 39, so I had the NT ultrasound which was normal; no soft markers and NT was 2.3- they said under 3 fine (DS's was around the same last year when I had it done). Had the Materniti21 done; results came back 2 weeks ago- positive for T21. Quite a shock. We're still going to do amnio to confitm, though for T21, the test is pretty acurate, but still not diagnostic. It's such a nerve wracking waiting game. Good luck!

starlightgator · December 2014

Thank you all for your posts. I'm a lurker from the PAIF board and reading your posts has helped me feel not so alone. I hope it's ok to post. I had my first "belly" US this past Tuesday and was so excited to see my twins live in video for almost 45 minutes. Then, the worst news came. The baby that has been about a week behind in growth showed a thick membrane on the head and neck. Doc explained high risk for DS and had me take the Maternity 21 test since I'm 40. I'm freaking out and a terrible wreck thinking about the future. I'm wondering if all the other posters had results they could share. I noticed that this feed started in July. Desperately seeking some help with this.

bumpuser5925118 · December 2014

I'm waiting for the Harmony results to come back. I was given 1 in 34 chance of Down syndrome. I had the blood drawn for the test on Wednesday. I've been a nervous wreck since getting the news. I actually made myself sick over it. It's all I can think about, and can barely focus on anything else.

bunbun21 · December 2014

We got the official diagnosis of Translocation Down syndrome at around 20 weeks. We are being induced this Thursday and I just want all of you momma's out there that are so worried about if your baby has ds or not to not worry. I know it is so scary, and we have so many more worries to face health wise once we get the diagnosis. I was so scared at first, but through research and an amazing support system we are so ready for baby to get here! I've started documenting our journey at www.dearoliver.org I also am on some amazing Facebook support groups if anyone is interested in joining a group of women posting adorable baby pictures and helping each other our PM me and I will share links with you

SaraGore83 · February 2015

I had my 20 week ultrasound last Saturday and my baby girls has a short nasal bone (it didn't grown very much since my 16 week ultrasound) She also had a bright bowel. I have been so worried. I took the Harmony test on Monday and then did a cystic fibrosis test on Friday. The specialist said the bright bowel is a marker for both downs and cystic fibrosis, the short nasal bone just for downs. This waiting is so hard.

I have been so worried lately.

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