Huggies Forum

High Risk for Down's Syndrome... anyone else? Rss

Hi guys

A couple of months ago (at 13 weeks) we had an ultrasound and blood test that gave us a 1 in 2 chance that the baby had DS. In fact, the GP said that though the highest chance that the screening could deliver was 1 in 2 (50%); given the results she thought that a more likely result was greater than 85%. This obviously freaked us out and caused my wife in particular much heart ache.

In order to better understand what all this meant I started researching everything to do with DS testing and in doing so probably read every forum topic with '1 in 2 chance of DS' in the title. I was pleased to read of cases where screenings had provided a 50% chance of DS and the child was further tested (CVS, etc) or born to discover that they were completely healthy and without any chromosomal abnormalities (an obvious thing I know given that there is a 50% chance of no problem).

Well, we had a CVS test a couple of weeks after the screening to find out that our baby is 100% free of chromosomal problems and further ultrasounds have confirmed that the extremely thick neck fat (one of the markers for the high risk) had completely disappeared.

My wife wanted me to post our story on a few of these threads so that anyone else in a similar position to us can have more hope than perhaps they would otherwise have had given their 1 in 2 chance outcome.

Cheers

JT
Hello everyone,
I had a phone call from my doctor last week wanting an urgent appointment. He informed me that our 12 week screening had come back as high risk for Down Syndrome, a 1 in 8 chance (through blood test & untrasound). I was terrified and started googling like crazy trying to find some positive information.

I am 29 and this is our first pregnancy, my numbers were HCG 0.95 Mom, Papp-a 0.23 Mom, NT 2.94mm.

We opted to go for a CVS test yesterday morning and the nurse just called with our FISH results, our baby is clear for DS, trisomy 13 and 18.

I just wanted to share this news for people out there like me who are terrified something is wrong and searching for some positive stories. Our little one is looking good at just under 14 weeks. smile
Hi,

My NT scan and bloods returned a 1:74 result. This sent me also in a research frenzy. The internet can be your own worst enemy at times.. smile

As I'm 43 it was recommended I have a CVS, which was performed Thursday. Now nervously awaiting the results.

Hi all I'm just wanting some info if anyone can help , I'm pregnant with my 6th baby , I had my 12 week scan and blood taken a week ago my dr asked me to come in and see him yesterday and I was told I have 1:90 chance of Down syndrome but the thing is that he never gave me any of my results of the scan or blood , when I had the scan done he said it all looks fine , he is sending me for another scan which will cost me $200 I'm not sure if I should have the amnio test done it only going to cost $375 it's not much for peace of mind I have been told that the amnio is the only 100% correct test , or should I go get a second opinion as this dr has told me nothing about any results and when I asked he just said get the other scan done , all my other pregnancies have been normal and all 5 children are normal (sometimes lol) . I'm just really confused the only thing different about this pregnancy is that I have bad morning sickness and I feel big already , I'm 13 weeks 3 days today , when I look at the print out of the baby it looks normal it has a nose and doesn't look like it has fluid behind the neck , I think my hcg levels were a bit high at 5 weeks , I'm thinking about going to see my normal gp as I'v seen him with all pregnancies except this one as we have moved but I think it might be worth the drive or should I just have the scans and amnio test this dr wants me to do ?
Hi kazzzac , the dr never went through the results with me at all so I really don't know what part / parts of the tests were the reason for the 1:90 , people say that ultrasound can be wrong so I think id rather spend the money and get the amnio test done rather than spend money on another ultrasound that still may not confirm 100% .i still might go see my gp as he is the one dr that found out I had helicobactor last year after I saw 4 different drs to find out what was wrong with me , I'm thinking he is worth the long drive I'll see if he can organize the amnio test for me
Hello ladies , I went to my dr today and asked for a copy of my 1st trimester screen . Every thing on the ultrasound was normal eg. skull/brain, abdominal , bladder, cord , nasal bone , spine, stomach , both hands both feet, bladder 3mm. Sonographers comments : no adverse features . Nuchal translucency 1.7mm, heart rate 156 . Bloods are bhcg : 1.976 MoM , pappa-a 0.371 MoM. My dr told me I had 1:90 of ds but on the report it says 1:98 . I really don't know if the bloods are high or low can anyone please let me know if they know what normal bloods should be about . I had the bloods taken 11/03/13 I was about 10 weeks 2 days and ultrasound 27/03/13 12 weeks 3 days , I really don't know if having blood taken that early before ultrasound makes a difference or not.
Hi Buntings, I've got no idea on the blood results, but my bloods were taken at a similar stage, a couple of weeks before the scan. Maternal age is a contributing factor too, given this is your 6th bub and depending on when you started wink that is also possibly where your risk level is coming from. That risk level is the standard for around 40-41 years (every table seems to vary). Did the doctor mention if you had a higher or lower chance then the standard for your age? I hope everything turns out well for you smile


Lilgem , I was 17 when I had my 1st baby she is 16 this year they are all between 2 -2.5 years apart I'm 33 this year , the dr didn't discuss anything with me at all that's why I'm so confused , he seriously told me nothing I only saw him for about 5 minutes before he pretty much rushed me out . I'm going to see my normal gp on Tuesday and see what he thinks
Buntings7 wrote:
Hello ladies , I went to my dr today and asked for a copy of my 1st trimester screen . Every thing on the ultrasound was normal eg. skull/brain, abdominal , bladder, cord , nasal bone , spine, stomach , both hands both feet, bladder 3mm. Sonographers comments : no adverse features . Nuchal translucency 1.7mm, heart rate 156 . Bloods are bhcg : 1.976 MoM , pappa-a 0.371 MoM. My dr told me I had 1:90 of ds but on the report it says 1:98 . I really don't know if the bloods are high or low can anyone please let me know if they know what normal bloods should be about . I had the bloods taken 11/03/13 I was about 10 weeks 2 days and ultrasound 27/03/13 12 weeks 3 days , I really don't know if having blood taken that early before ultrasound makes a difference or not.


See my OB specifically told me to have my bloods taken after the 12week mark and I had the scan a few days later. So this does make me wonder if it does make a difference and if you had your bloods taken too early. I wonder if your gp could organise to have them done again .








Buntings7 wrote:
Lilgem , I was 17 when I had my 1st baby she is 16 this year they are all between 2 -2.5 years apart I'm 33 this year , the dr didn't discuss anything with me at all that's why I'm so confused , he seriously told me nothing I only saw him for about 5 minutes before he pretty much rushed me out . I'm going to see my normal gp on Tuesday and see what he thinks


It wouldn't be that high at 33, and the scan results sound great, it must be something to do with the blood results. I was actually told to go at 10 weeks, so I think the blood timing was right provided you are confident with due date. Dr google say 10 to 14 weeks for bloods. You deserve much better then a rush job from your Dr at what must be a really stressful time for you sad . I hope your GP spends the time with you explaining what your results mean and what the testing options and risks are from here.


I was thinking the same about the blood taken to early before the scan but I just thought things change all the time , mine were 16 days apart I know it's not really long but I know the levels change all the time while pregnant , hopefully my dr will make it all more clear for me on tuesday when I see him , I don't think he can redo the tests as I'll be 14+2 on tuesday it might be to late , I'm still considering the amnio as I think I need to be prepared as I have my hands full with the 5 I have already ,and I think I really do need to know 100% , thank you ladies for your replies xx
Lilgem I know my dates are right from my dates and ultrasound dates I'm due 6th October (my birthday ????), maybe the blood wasnt taken to early then but I really don't know as I have never had any problem with any of my other pregnancies its all new to me . Starlight I hope tomorrow goes well for you . Ps I do feel better talking to people who know what I'm going through hubby just says dont stress
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