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Original poster

High Chance of Downs from Quad Test

60 replies

Monty83 · 04/12/2019 15:51

Hi All,

We had a phone call from the Fetal Medicine Centre today to say that we have a 1 in 5 chance of our baby having Down syndrome. I feel so upset and my head is in a complete spin. We can not decide whether to have the Harmony Test or the Amnio done. I am 16 weeks so I'm worried that time is against us. We are very undecided as to what we would do if our child had Downs Syndrome. There is a part of me that desperately would want to keep our baby and another that doesn't know if we could manage (my husband has a cousin with Downs and so we have had some insight into what it can be like). How do you even begin to make a decision about these things. I'm so conflicted about everything. It's our DS birthday tomorrow and his party on Saturday. I dont know how I'm going to get through it all.

I'm not sure why I'm posting really as I know that the answer can only come from us but I just dont know what to do...

OP posts:
Gemamy1984 · 04/12/2019 16:01

Hi @Monty83

Sorry to hear about your post. What is your gut telling you?

I was giving a high risk for Edward's and Patau's, also under the care of the same team as you. I've just had my scan on Monday also 16 weeks to look for soft markers. Was that offered to you? I've heard the harmony test is better to detect DS than the other two trisomy's.

Here if you want to talk xx

SapphosRock · 04/12/2019 16:06

Sorry you've had such a shock. I had the harmony test recently and would recommend it - results came back in less than a week and it's non invasive so no risk of miscarriage.

Depending on where you live it can be NHS funded or you may have to pay privately. We paid and it was about £300.

Good luck x

SylvanianFrenemies · 04/12/2019 20:55

Sorry you are going through this.

I would go straight for amnio. I was high risk risk from nuchal measurement. Had NIPT. Waited the full 2 weeks. More than 99% certainty of Downs. Had CvS. Positive for Downs. Had tfmr 3 weeks later at 18w.

The NIPT is not diagnostic, so in hindsight I have some regrets about the delay it caused.

Only you and your husband can make the decision about proceeding or terminating if it comes to that. I never thought I'd have a tfmr for Downs. I have a lot of experience of meeting people with Downs, so know both how bad and how good things can be. I really wanted and loved my baby so much, but I didn't want to take the risk of a poor quality of life for him - especially as he had multiple organ abnormalities. It's hard, but there's no wrong decision.

ARC-UK are great.

Wishing you all the best, and good news soon.

SylvanianFrenemies · 04/12/2019 20:57

Btw the three week delay between finding out and the tfmr was because I had flu, then my kids had D&V. The hospital were very accommodating once we decided.

lifeisgoodagain · 04/12/2019 21:04

So sorry, I would suggest you ask for a fetal echocardiogram, heart problems are common in downs, if they don't have any other medical conditions it changes the decision a bit, I know I couldn't terminate for downs but I have a good friend with it, it would seem like I'm saying she's not worth living

Rockingdahorse · 04/12/2019 21:12

it would seem like I'm saying she's not worth living

I think this is a bit silly and unhelpful to the OP. There's no right or wrong decision, and most women (over 95%) choose to TFMR if they recieve an antenatal diagnosis of down's syndrome. It's a decision based on the woman and her partners feelings, experiences and beliefs, and using emotionally charged language to try and swya her is unfair.

OP. There is an 4 in 5 chance your baby will not be affected. Have you thought about what you'd do if you had a positive result? If you feel sure you would opt to tfmr, going straight for an amnio will give you a clear answer.

Flowers
Conorgog · 05/12/2019 17:12

Hey @Monty83

Sorry you are going through this, did you have a scan and were there any other markers? Was this probability based on the combined test? As PP said if tfmr is an option for you then go directly for the amino, NIPTs will just give you a (fairly accurate in most cases) probability.

I had a tfmr in July for downs and I don’t regret it.

@nanmumandmidwife is on here and is an absolute gem of impartial knowledge, and like others may have said ARC is a fantastic resource.

www.arc-uk.org/

Good luck, sending a big hand hold, hope you manage to have an okay weekend.

AndddddHerewegoagain · 05/12/2019 22:35

Hi @Monty83 we are in a very similar situation. Had the nipt yesterday though now slightly worried about it due to the comments on here saying its not overly accurate.

We missed the 10-14 week measurements as the pregnancy is 4 weeks ahead of our dates so literally just going by the blood test. Hoping we all get some results soon. Sending you Flowers

Meltedicicle · 05/12/2019 22:44

Hi OP, just wanted to say hope you are ok. My DD is 11 and has Downs. Happy to chat if you want to DM with any questions Smile Also, if you do get a positive result and are undecided, it might be worth seeing if there is a local support group in your area and having a chat with families there. Most people are non-judgemental and will be happy to talk things through with you. Try not to worry, I know it’s easier said than done.

SylvanianFrenemies · 06/12/2019 20:04

Hi @AndddddHerewegoagain

NIPT is very reliable for Downs - and pretty good for Edwards and Patau. I had CVS after my NiPT being positive for Downs, but it really was a formality.

I think you can be confident on whatever result for Downs. Edwards and Patau in particular are likely to present abnormalities on the scan, so in the unlikely event of a false negative there would likely be other routes to ID.

AndddddHerewegoagain · 06/12/2019 20:19

Thank you @SylvanianFrenemies I've been trying to google to see if they are more obvious on scans. Had a scan Tuesday which looked really good so just keeping everything crossed!

Original poster
Monty83 · 07/12/2019 04:58

Thank you so much for all of your replies. I so very much appreciated the help and support. After I had calmed down and had a chance to think we decided to book an amnio for Monday. I haven't had the chance to be nervous yet as I've completely thrown myself into my DS birthday. Turns out it's been the best distraction. However come Monday I know I'll be an emotional wreak. If it's not too difficult to talk about can anyone let me know there experience of an amnio so that I know what to expect. Now that I've had the chance to think I have a few more questions like does it hurt? Should I have a fall bladder? Will they look for soft markers first and be able to tell me about them in the scan? Thank you so much once again and I'm so incredibly sorry to those that are going and/or are going through this now xx

OP posts:
Original poster
Monty83 · 07/12/2019 05:03

Here we go again,

I'm so sorry that you are going through this too. It's such a devastating blow. The NIPT is suppose to be really accurate. With us I just decided in the end that I wanted to know the results as soon as possible (we couldn't go to get the bloods done till Tuesday). Either way I'm terrified about the result and not sure how I'm going to function next week waiting for the results. I will be thinking about you. Sending a virtual hug xx

OP posts:
SylvanianFrenemies · 07/12/2019 08:09

I was meant to have amino but it couldn't be done so they did cvs.
I was not told to have a full bladder.
I asked the doctor doing it to talk me through what she could see, and she identified lots of soft markers.
It was sore, but not badly so.

Good luck for Monday, and the coming week.

AndddddHerewegoagain · 07/12/2019 16:08

@Monty83 we've thrown ourselves into christmas this weekend. Our son doesn't know whats hit him! Also my house has never been so clean Grin

We were very fortunate i was able to book the blood test the day after the midwife phoned me. Work have been really nice and supportive as well

Hoping you get your answers soon sending you lots of love xx

JoyceJames · 07/12/2019 16:17

Good luck for Monday. There is still a 4/5 chance that your baby does not have Downs.

Original poster
Monty83 · 08/12/2019 21:48

Thank you @JoyceJames. I just so wish this week didn't have to happen.

OP posts:
Original poster
Monty83 · 08/12/2019 21:49

@AndddddHerewegoagain keeping everything crossed for you for a positive result. I don't know what I'm going to do while waiting for the results xx

OP posts:
AndddddHerewegoagain · 08/12/2019 22:27

Thank you @Monty83 trying to work out when I'll get the results back and driving myself mad with it all! Have a midwife appointment tomorrow so hoping to get some more answers from her. So annoyed we didn't know i was 3 weeks ahead of my date. Would feel so much more reassured if we had a nuchal measurement. Have my 20 week scan on the 23rd which will definitely be make or break pending the results. Glad to hear theres so much support for families out there if its needed

My son was born with physical birth defects and had 3 operations by the time he was 1. Was heart breaking which is why i think this has been such a kick in the teeth this time. (Neither are hereditary) so unfair! Just feeling sorry for myself this evening

Original poster
Monty83 · 09/12/2019 12:13

@AndddddHerewegoagain I really hope you get the results soon. Waiting seems so cruel. Let me know how your midwife appointment goes. Hope she has some answers for you. I felt the same as you. So wanted the combined screening. We have nothing to go on apart from the bloods. Feel in complete limbo. Our 20 week scan isn't until the 31st December and they didn't look for indications in the scan before the amnio. So goodness knows what happens if we find out our baby has a chromosome disorder and we've got nothing else to go on. I'm guessing they would bring a scan forwards if we wanted one. I'm so sorry that it's been so heartbreaking to see your son go through so many operations and at such a young age. How is he now? Our first little boy was premature and then we had a MMC. It would be so lovely to have a straightforward pregnancy. Sending hugs x

OP posts:
Original poster
Monty83 · 09/12/2019 12:20

Just back from the amnio, a little painful but definitely manageable. To anyone about to go through the same, try not to worry about the procedure (easier said than done I know) it's over before you even realise. Sending lots of love and luck to anyone in a similar position xx

OP posts:
AndddddHerewegoagain · 09/12/2019 16:15

Hi @Monty83 glad to hear all went well today.

My son is fine now you can't even tell hes had surgery, he will need more as he grows up and skin stretches but will cross that bridge when we come to it!

Funnily enough the midwife told me today that my risk of downs is higher because of his birth defects. No-one had told me this before so that's also been slightly reassuring.

Would love to have a straight forward pregnancy! Nevermind. We're obviously made of the tough stuff

When will you have your results?

Wonkydonkey44 · 09/12/2019 16:18

I would also contact the Down syndrome association as well . All the best x

SueDoeName · 09/12/2019 16:30

Hi lovely can you have CVS ?

I was I. This position 3 years ago. Harmony test picked up downs and cvs confirmed it.

Best of luck whatever you decide x

SueDoeName · 09/12/2019 16:32

Sorry I didn't read the entire thread - amnio will be definitive. Best of luck x