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High risk of Downs Syndrome

(43 Posts)
Littlebird005 Sun 26-Jun-16 05:38:48

Hello all,
This is my first ever post, and in need of some support. I recently received a letter confirming the results of my screening test. It suggests that I have a 1 in 49 chance of a child with Downs or other chromosome issue. The news has come as a massive shock and I now don't know what to do. The NT part of the test appears good - a measurement of 1.6mm, however my HCG level is high and my PAPP-A seems extremely low to me (0.17MoM). I'm not sure what this means. I'm 33. This is my second pregnancy, my first ended in a MMC.

My pregnancy has already been quite stressful as I've had bouts of bleeding at weeks 8 and 12 (I'm now over 13 weeks).

Having completed some research I understand that there is a Harmony test that you can get, but i'm not sure whether it is testing the same things that have already been tested or whether it would tell me something different.

I'm feeling so helpless and alone. I don't have anyone I feel I can talk to and feeling incredibly overwhelmed. I would be grateful if anyone could please share their similar experiences.

Izzadoraduncancan Sun 26-Jun-16 05:45:11

Hi LittleBird. I know it's hard not to stress, but cling on to the fact you have a 48/49 chance the baby does not have a chromosomal issue (easier said then done).
I would strongly recommend the Harmony test. It gives much more accurate results and quite quickly.
As an aside my eldest had a 1/12 chance of chromosomal abnormalities. They were looking to see what was wrong, not if something was wrong 😢. I also bled lost and was incredibly sick with him. He's now a strapping 19 year old studying maths at a top university!

sofato5miles Sun 26-Jun-16 05:49:22

I had a 1:2 chance. Bled at 4 weeks and 8. Had a cvs and he was all clear for the chromosomal tests that it covers. Awful birth and nearly lost my son. He is now 6 and doing brilliantly with absolutely nothing wrong with him.

Littlebird005 Sun 26-Jun-16 06:01:39

Thank you for the messages Izzadoraduncancan and sofato5miles. I really appreciate them and thank you for sharing your experiences. My rational mind knows that that the odds are good, so I need to try and focus on that. I think the Harmony test, whilst expensive, is perhaps the best initial way forward.

Swifey Sun 26-Jun-16 06:16:04

Google nifty test. It's as accurate as you can get. They have clinics in London and Cardiff, and Manchester or Leeds I think. They are absolutely wonderful, you get a scan and a blood test, and it is nearly 100%. They are very professional, and in fact it is the test that the nhs is trying to roll out, rather than these old fashioned tests they do now. I think you will have to go pdq though, as you are now 13 weeks but worth a look. flowers and brew for you xx

OneArt Sun 26-Jun-16 06:23:38

I was given a 1 in 200 risk at the 13 week scan with DD. I had an amniocentesis and was given the all clear - that gives you a definite answer one way or the other, not a risk factor. Have you been offered an amnio or CVS?

Good luck OP flowers

Jodie242 Sun 26-Jun-16 09:09:05

The Harmony test is very accurate and would give you aneed answer that most would argue us definitive, however if you feel the need to be 100% sure (as I did) then I would wait and have an amnio. You get a full genetic array too so any proles not detected by the Harmony test will also be spotted. I won't lie, it's not a pleasant experience, but it's over very quickly and I've found the definitive all clear to be of great comfort. Best of luck xx

amysmummy12345 Sun 26-Jun-16 09:13:28

I had a 1:5 chance, here is my healthy 3 week old miracle, have hope lovely, we had CVS test after our nuchal was 3.6mm. It was the most stressful time of my life, stay strong and positive xxx

Nightfall1983 Sun 26-Jun-16 10:06:16

I had the harmony test after my nuchal scan+blood tests indicated a high likelihood of Down's Syndrome. I highly recommend the test, my little girl was born at the end of December - she is absolutely perfect and such a joy. She does have Downs Syndrome and knowing that she would have us lots of time to prepare - I highly recommend the Downs Syndrome Association website if you'd like more information - best wishes for the future

AveEldon Sun 26-Jun-16 10:41:15

Harmony or a NIPT test (there are other brands) involves taking a blood sample from you. There is no risk of miscarriage and it is more accurate than the scan & bloods screening you have had already

Having an amnio or CVS carries a risk of miscarriage but it should give you a definite answer

www.arc-uk.org/ Arc has a great helpline and lots of info online

Littlebird005 Sun 26-Jun-16 17:07:38

Thanks everyone, your messages and support are really helping me. Congratulations amysmummy12345 and Nightfall1983 on the arrival of your gorgeous bubbas. Hope you are both enjoying being mummys grin xxxxxx

BellaBellaBelle Mon 27-Jun-16 15:10:36

I had a 1 in 4 chance of a chromosomal abnormality, and bleeding up until around 16 weeks. Opted for a CVS and it came back all clear. It was such a stressful time and I didn't feel as though I could get excited.

I think the CVS carried a 1% risk of miscarriage (memory isn't great though!) but the hospital I had the procedure at told me that their individual statistic was actually less than 1%. For some obviously this risk is still too great but we couldn't afford the harmony test and wanted a quick result.

Thoughts are with you and I wish you all the best flowers

BellaBellaBelle Mon 27-Jun-16 15:11:23

Oh and forgot to mention that my dd is now 17 months old and I am exhausted!

Littlebird005 Tue 28-Jun-16 15:04:17

Thank you for your message BellaBellaBelle and for sharing your experience. It's so encouraging to hear of so many positive experiences.

I decided to opt for the Harmony test in the first instance so now just waiting on the results. I feel this is going to be the longest 10 days or so of my entire life. I'll keep you posted on how it goes.

TheRedWoman Wed 29-Jun-16 09:35:17

Littlebird005, I know exactly how you are feeling. We were told last Monday we have a I in 63 chance of DS, due to PAPP-A result (NT and HCG are fine). Opted for the Harmony test and had it the next day. Anxiously waiting the results to come in, I was awake at 4am this morning with it all going round my head.

Thoughts are with you, wishing you speedy test results.

NoThighGap Wed 29-Jun-16 11:04:36

I am waiting for Harmony results after odds 1 in 65 for DS. I am ok some of the time but then burst into tears randomly. I am also not sleeping and feel very detached from the pregnancy. Have no idea what we would do if it was positive, I go from one decision to the other about 10 times in a day. The rational part of my brain knows that there is a 64 out of 65 chance that everything is ok but logic isn't winning at the moment. Littlebird005 I am with you on the waiting - 10 days is going to seem like forever! I had my bloods taken yesterday, when was yours?

Littlebird005 Wed 29-Jun-16 11:29:19

Hello TheRedWoman and No ThighGap. the waiting game really is torture. Like both of you I am really struggling to sleep. Why is it everything seems a million times worse at night. to make it worse I'm starting to show and work colleagues are asking me questions.

NoThighGap it sounds like we're having such similar experiences. I had my blood taken yesterday too! Sometimes the rational part of me is winning and then the rest of the time i'm on the verge of tears or just sobbing my heart out. Like you I sway between decisions - I really don't know what to do.

My thoughts are with both of you and crossing everything for a positive outcome for you both. Here's hoping that the results come back sooner than is predicted so that this limbo state comes to an end sooner than later. Let me know how you get on, and if you want to chat or vent in the meantime then please get in touch. It helps to know we're not alone xxx

Maybenot321 Wed 29-Jun-16 11:45:16

Hi OP, my results came back 1:80 1st pregnancy and 1:10 2nd pregnancy. I had an amniocentesis both times, and both children are fine. I was beside myself waiting for the results and worrying about the risk of MC with the amnios. I didn't/ still don't know what I would have done if the results would have been different, but felt I needed all the information IYSWIM.
Like you, I bled 1st pregnancy at 8 +12 wks, and then 8, 12 to 18 weeks (off and on)with the 2nd one. With one thing or another, I found pregnancy extremely stressful. Best wishes to youflowers

MadeForThis Wed 29-Jun-16 12:20:50

Hi

My results came back 1:5 due to a high nt measurement. Had the harmony test and got the results a week later. Came back clear. Baby now 9 months.

Nurses at the hospital spoke highly of the accuracy of the harmony test and believed that in the future it would replace the amnio as no risk to baby.

Test results will also indicate gender so if you don't want to find out make sure you tell the person who phones with the results. We got a phonecall then an email with the full results.

NoThighGap Wed 29-Jun-16 12:29:51

Littlebird our experiences are very similar, I've already had bleeding and convinced I'd miscarried at 11 weeks and then told all fine. Have a busy couple of days at work now but my brain definitely isn't operating at full capacity, so not sure how that will go. I'm using bad TV as a distraction and currently re-watching 'No Angels' and lots of very bad channel5 'documentaries'. Would normally deal with stress by going out and drinking too much, which obviously is not an option!

lcoc2015 Wed 29-Jun-16 14:51:04

Hi Madeforthis - the harmony will not replace the amnio - it is a not a diagnosis but just gives probabilities. With the harmony If you get the result less than 1 in 10,000 chance then you can take it as a negative but if you got a high probability result then it would always be advised to have an amnio before proceeding with any further steps. I got a 1 in 3 probability of triple x syndrome on the harmony test and my baby is fine. The test was picking up a chromasomal abnormality in my placental cells (not the fetal cells)

BellaBellaBelle Wed 29-Jun-16 16:46:52

The NHS are actually working towards their own version of the harmony test (we were involved in a trial around the time that I had the cvs) which is a positive step. As the pp said I don't believe it will replace the amnio completely but many more people might opt to have the harmony type test initially.

lcoc2015 Wed 29-Jun-16 17:56:19

Bellabellabelle - thats great news it'll save so much unnecessary worry that arises from the current NHS / nuchal type screening. Hope the posters upthread get happy news soon x

TheRedWoman Wed 29-Jun-16 19:41:51

Delighted to tell you I got my results at 5pm this evening and they are all low (1 in 10,000). We are so, so happy and can relax at last! We also found out we are having a girl smile

They came back much quicker than anticipated, 8 days rather than the estimated 10.

Wishing you speedy results x

BellaBellaBelle Wed 29-Jun-16 20:01:09

That's fantastic news redwoman. I hope you manage to enjoy the rest of your pregnancy and your little girl when she finally arrives.

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