High risk for Down's, Edwards and Patau's

[Manctart]

Hi all, just after any similar experiences or a hand hold really.

I got the dreaded call from the midwife today and am high risk for Down's (1 in 110) and Edwards/Pataus (1 in 130). It has really knocked me as I never actually considered those possibilities. We had already talked and Down's is not a big deal for us but would rather be prepared so we can start planning. With the other two I don't think I am not so sure

We are going to pay for the IONA test first to try and get a better answer and then if still high risk probably have amniocentesis. I'm just really devastated that this pregnancy has been crap so far and doesn't show any sign of getting better

Sorry for a long and depressing post. Please give me your honest thoughts and experiences if you have them.

[Bluebirdsky]

I'm sorry that you are going through this, my understanding was that it's very unusual to be high risk for all conditions as levels are often high in one condition and low in the other so it could be worth confirming this.
I would also ask what the detection rate of Edwards and Patau's is from the IONA test as it is often lower than it is for Down's.
I hope everything works out for you, there is a great charity called antenatal results and choices (ARC) if u want any advice or someone to talk to.

[Manctart]

Thank you for replying bluebird I actually have a consultant appt anyway tomorrow so I can ask about that then. From research it seems like quite a few people have been high risk for all three but that's probs just cos they seem to be the ones who have posted about it! I will ask about the detection rate too, according to the IONA website it's over 99% for all three I hope they aren't embellishing the truth... I am trying to be positive and hope it all works out too but really struggling

[grobagsforever]

1:110 is not high risk! DD2 was 1:15 and is completely healthy.

1:110 is baseline depending on your age?

[Manctart]

Well the midwife said it was high and I don't really know much about it so just went with what she said. I'm 27 so maybe that's why it's higher as should be much lower at this age? Thank you for letting me know though, can I ask if you had additional tests?

[Whizziwig]

It's very worrying to hear you are in the high risk category, but realistically, a 1:110 risk is still quite tiny. Go and discuss things with the consultant and go for the tests if you want a definitive answer. Look up the ARC charity too, they have a very supportive helpline.

FWIW I had a higher risk for Downs (not sure about Edwards and Patau). I had an amnio as I felt I needed to know one way or the other and all was well.

[Dweet1259]

What was your nuchal measurement? Mine was 4.1mm which is high, I was told 30% chance of chromosomal defect, had the blood test, results were clear and have a perfectly healthy DS. I know it's awful to get the news but have the test before panicking x

[Manctart]

Dweet I'm not sure I will ask the consultant today. The sonographer said the scan was fine which I think has maybe added to the shock. Yes I will try not to panic!

Whizzi yes the midwife gave me ARCs details so maybe I will give them a call if I still have queries. Glad your experience was positive in the end

[Bluebirdsky]

Hi risk is anything over 1:150 so they are correct that you are high risk.

Basically what it means is if 110 babies were born all from women with the same risk of you, one of them will have Down's syndrome (using as the example) 109 of the babies won't. What this test can't tell you is if your baby is the one or not, which is why the other testing you have mentioned is offered.

I hope your appointment with the Consultant goes well.

[HoneyWheeler]

Just want to say as well I was 1/56 for Edwards Patau and we did the Harmony coming back low risk. It’s a horrible wait but don’t lose hope! Xx

[Nightfall1983]

Hi OP, I’m sorry you are going thru such a worrying time. I wanted to offer my experience:
I had the IONA test in 2015 after my 12 week bloods showed high ‘risk’ (hate that word, chance would be better). Like you I felt I wanted to know for sure, I managed to get the test done on the NHS as they are trialling it so do ask your consultant about this tomorrow. The IONA confirmed that my little girl would have Down’s Syndrome and I am thankful for the power that knowledge gave me. I was able to research the condition, meet local parents and other Babies with DS and generally prepare for her arrival as all parents do. My daughter will be 2 years old next month and she lives a rich, full life. She brings joy to everyone (literally, she is facing outwards in the pushchair these days so I can’t see what she is doing but every time we walk past a grumpy Londoner they start to grin and wave and walk away with a spring in their step!). Having a child with an extra chromosome is pretty special and there is a lot of support out there these days.

Anyway, best of luck with whatever you decide to do, I hope that you are not left in limbo for too long xx

[JoJoSM2]

Speak to the NHS and see what they offer - in soma areas they cover a NIPT for you if you come out high risk so worth asking.

[Manctart]

Hi all thanks for your responses!

Jojo I did ask but we have to pay for it here in Manchester, thanks for the suggestion though it was worth a try.

Nightfall thank you for yours message, it's good to hear other experiences. I am not too worried about Downs as my dh and I could cope ok with that. We had already discussed it and although I respect everyone's right to choose I do not see Downs as a reason to end a pregnancy and your story just proves that IMO. I would like to know either way because I would like time to prepare. It's the other two trisomys which are much more of a worry but I have booked in for the blood test tomorrow morning so hopefully will know by the end of next week.

[FutureFairyCrayon]

Good luck Manctart.

My risk came back as 1:3 for Downs, and 1:2 for both Edwards and Patau. My blood results were awful, and the nuchal measurement was 4.2mm, so very high. We then had a more detailed scan, and there were other physical anomalies spotted, so we pretty much knew that there was something seriously wrong prior to invasive testing. It turned out to be Patau syndrome, probably due to my age (43).

Arc were incredibly helpful when I spoke to them, and I really do recommend contacting them if your IONA results come back positive.

[Nightfall1983]

If you decide not to continue your pregnancy for whatever reason, which is entirely your choice, then ARC will be a great support to you I am sure. However if you are after actual advice and information about the realities of having a child with one of the trisomies then I would not recommend them.

Feel free to PM me if you get a positive result for Down’s Syndrome - I can introduce you to a number of resources. There are people out there living with Edwards and Pataus Syndrome as well so even if your results are positive for one of these it doesn’t have to be catastrophic though I agree it would be very scary. You have choices no matter what happens and I wish you luck deciding on the right path for you.

[grobagsforever]

Hi @Manctart sorry for slow reply. I had a CVS on the NHS which came back clear. DD is three now and very healthy and bright!

[SleepingStandingUp]

Hi OP. My son has mosaic trisomy 18 (Edwards is Trisomy 18). Nothing picked up prenatally and CVS came back really low chance although this was before t13 and tt13screening.

If the results come back not how you hope, you will hear a LOT about incompatible with life. If your on FaceBook please please look on the Trisomy 13 and 18 pages first. Lots of our babies do survive pregnancy, birth, and years of happy loving life. It isn't easy and unfortunately not all babies make it. But you need BALANCED information's and hospitals don't yet give that.

Also if the result comes back ask of it would detect a mosaic condition. Like in my son it means not all cells are affected (ha to all cells being the same on a chrosmome level) and although he has had a few medical issues he is in no way considered life-limited.

The beat decision is the best decision for you and your family but do take a look online, see what else the possibilities are

Good luck xx

[Manctart]

Hi all thanks for your replies it's good to hear from so many people! The initial shock has worn off now and I had the IONA this morning so will wait and see what happens with that before considering anything else. I think I was more worried because I have had to have so many appointments for crohns and the pregnancy (at least two a week) and obviously this means even more but I'm a lot better today even than yesterday.

We would definitely find out all we can if the results from IONA aren't too positive and would not make a rash decision to terminate a pregnancy if there is any chance of life - I know many people may not agree but my dh and I are pretty strong so hopefully could deal with it as best we could!

Will post an update when I get one thanks again everyone

[user1470147116]

I'm 39. I had my 12 week scan recently on the NHS and then said my risk of Downs was 1:57.

The nuchal was 1.8mm, consultant said my age made me high risk.

I did the NIPT test which is far more accurate and risk of Downs was about 1:10,000

www.thebirthcompany.co.uk/harmony-pre-natal-test.php

I recommend doing the NIPT test!

[Lotsalotsagiggles]

Ours cake back 1:30 for downs, had the CVS and all came back clear and fine!

[Nikki2ol6]

Hello I had a high risk of 1:5 for all 3!!!!!! This wasn’t seen until 20 weeks though after they found my baby to have multiple heart defects. I was devistated. They highly suggested an amino and I had it done immediately, the next day I got a call to say my baby was a boy and didn’t have downs, Edwards or Patus. However I had to wait a further 2 weeks for a much more detailed look at his dna. Thankfully he didn’t have any chromosome abnormalities and just a very poorly heart.

[Manctart]

Hi Nikki I hope your little boy is ok! It's good to hear reassuring stories.

User thanks for you advice, I have the NIPT yesterday so should have the results back by the end of this week and will then go from there. After the initial panic We are doing ok now, it just was not even something we had considered but fingers crossed all will be well.

[Nikki2ol6]

He’s had two open heart surgeries and awaiting another. He’s doing just fine thank you

[Dweet1259]

How did you get on Manctart?

[Ceebs85]

Hi OP haven't had chance to read the full thread but I got a high risk downs score of 1:7 because of low Papp A. Had a CVS because we felt we needed to know and it came back negative. My age wasn't a factor apparrently and I'm 31 so don't worry about that bit.

My daughter is now 15 weeks old.

I completely understand the spin of questions and emotions and hope you get good news

[Manctart]

Hello Dweet and Ceebs thanks for your kind replies. I haven't had the results back yet, think I am going to cave and ring today on the off chance it might have only taken 3 days! I will post an update when I hear back, fingers crossed it will be a positive one!