Please help me - 12 week Scan High risk DS

[Tasha1494]

Hello,
Wondering if anyone can reassure me. I've just had my nuchal scan and it came back with high risk T21 13 and 18. 1 in 10 chance of DS. They wanted to do a amniocentesis test but I refused but they didn't offer me anything else e.g harmony test. Which they should of. Wondering if anyone has any advice. I'm 23 and this will be my first pregnancy.

[scaevola]

Do you want an actual diagnosis?

Because if your local NHS trust is not finding the harmony test you could either complain, and hope it can be sorted out in time, or you could get the test done privately (then complain later, so that policy changes)

[Tasha1494]

Thanks for replying. Yes I would and I can't stop panicking. I am currently seeing if they can give me the harmony test but still waiting for a call back.

[GirlcalledJames]

You have a 9 in 10 chance that the foetus does not have DS, so the chances are still in your favour.
Was there a particular reason you didn't want the amniocentesis?

[Tasha1494]

Yeah that's true! And yeah I didn't want any risk to the baby really and after looking at the harmony test is does seem safer and effective

[Thingymaboob]

The harmony test is not diagnostic, it's a screening test. Most trusts don't fund it as it's expensive and not diagnostic

[Tasha1494]

I've just had the harmony test done. So I've got to wait 2 weeks for the results. There is 14mm of fluid which is really high and I'm so scared. Just wondering if anyone else has been through this?

[AncientOva]

My nt measurement was 4.2mm and that was considered high enough that they bypassed Harmony and fast tracked me for a CVS (they use a needle to take a sample from the placenta). I have to say that 14mm does sound pretty bad, but obviously I'm not an expert. if the Harmony comes back as high risk, you might want to give ARC a call, they are fantastic and were very supportive and helpful to me when I received bad news.

My combined risk was 1:3 for DS and 1:2 for Patau & Edwards.

[Tasha1494]

Thank you so much for replying. Really helps ...feel like I'm on my own at the moment and no one knows what it's like. What was the end result for your baby?

[AncientOva]

We went for the CVS, and several other issues showed up on a detailed scan which indicated that there was a v high chance of T13/18 (my bloods were awful too). They couldn't do the CVS as my bowel loops were in the way, so we went back the following week for another try and the baby had died in the interim. I had an ERPC a few days later and we finally had it confirmed today that it was a baby boy and it was T13. Consultant assures me it was almost certainly random bad luck, although my age (43) is also a factor.

It's hit me quite hard as early scans at the EPU looked fine, and we'd conceived only six weeks after a mmc at Christmas. I am lucky though as I do already have a dd.

You are not alone, there is great support on here. It's a very difficult situation to be in and the waiting is the real killer. Once you have answers you can make decisions.

ARC are really wonderful though and you will get through this, impossible though it may feel at times. I will keep my fx for a better outcome for you.

[SweetieBaby]

Hi OP, I went through this many years ago now (nuchal scanning was just being developed so I had the blood tests). I was also 23 and my risk of DS was high. I agonised over what to do and reluctantly went for an amino which they couldn't do for technical reasons so I was told to come back.

At that point I realised I wasn't going to act on the results and so I decided not persue a diagnosis. With my second baby I declined all screening.

I'm not saying what I did was right but you have choices. I felt railroaded into tests by drs who just assumed that I would do what they told me. Take time to make your own decisions. I feel for you - it was an awful time but actually once I'd made my decision I felt at peace with it.

[Tasha1494]

That's how I feel. They didn't let me know about the harmony test. Luckily I found out about it. And yet they still wanted to pressure me into amniocentesis. Went ahead with harmony but will have to see. What was your outcome sweetiebaby?

[SweetieBaby]

My son didn't have DS but please don't let my outcome sway your decision. You might argue that my gamble paid off. I just remember that time and the awful, gut wrenching feeling of being so alone. I didn't think that I'd be able to get through the pregnancy without knowing one way or another but actually once I'd made my decision I was ok. Again, this was the right choice for me. I would never say you should do it. Just try and figure out the right decision for you and then go with that - whatever it may be.

[Tasha1494]

I've been told there's a high risk I'll miscarry anyway so I don't want to push it by having the amniocentesis. I've got a heart scan for the baby tomorrow and a 16 week scan 10th July. Thank you so much for the support. Means more than you'll ever know

[SweetieBaby]

You're welcome Tasha. I hope it works out for you - trust that whatever you decide will be right for you.

[Jessybear90]

Hi Tasha,

You're not alone I'm currently waiting for Iona test results coming through for his risk of T21 although mine was based on bloods not NT fluids. All I can advise is try to stay busy because the wait is againising. Everything crossed for you x

[curliegirlie]

Good luck tasha1494, I know the wait must be agonising- do let us know what the Harmony test comes out as.

I didn't have a pre-natal diagnosis (my chances of my baby having DS were given as 1 in 1900 from the NT scan and bloods) but we found out my daughter has Down's Syndrome when she was born. The consultant paediatrician listed a whole load of physical characteristics and potential health problems and it was really overwhelming- especially coming just a few hours after the labour. But, as it turns out my daughter is absolutely perfect with her extra chromosome! She turns two next week, has no health problems (but the children I know who do have heart defects are doing really well too), she does a mean bum shuffle, is wanting to stand all the time and has around 55 Makaton signs!

Do have a look at the Down's Syndrome Association resources for expectant and new parents, as well as the Don't Be Sorry Facebook page and blog. Life isn't so bad this side of the fence 😀

[Jessybear90]

Curlie, just wanted to comment that your daughter is soooo cute!

[UnderTheF1oorboards]

Hi OP, sorry to hear you have this stressful situation. My 6yo DS also has Downs and we didn't know before he was born (odds were 1:1600, ha!). He's bloody brilliant. He can read, talk, he's in mainstream school, he does ballet, gymnastics and French. He uses the toilet independently, has beautiful manners and loves taking care of our pets. He likes Minions (same as all six year olds), dinosaurs (same as all six year olds) and water slides (same as all six year olds). This is all totally normal for a child with Downs. Before he was born I would have been terrified about a child of mine having the condition. Now I know it's nothing to be scared of and I wouldn't have my beautiful boy any other way. I don't think he would either. Whether your baby has it or not, you'll both be just fine.

[myusernamewhichisthis]

i went through this last year. i had similar to harmony because of my age. there would have been a 25 year age gap between my new baby and my eldest child so you can tell i was no spring chicken.

sadly the outcome wasnt good for me. i had conformation by cvs of the diagnosis given from the harmony.

i would ask for cvs if amnio isnt something you would consider. also second giving ARC a call. (antenatal results and choices) they are lovely and very helpful.
good luck

[minipie]

tasha I guess you have the resulte by now and hope it was good news for you.

For others who may come across this thread I wanted to point out that harmony and other blood tests only screen for the three most common trisomies (downs patau edwards) whereas amnio and cvs can screen for a far far wider range of chromosomal and genetic issues. That may be why they were pushing the amnio I would guess.