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Antenatal tests

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Original poster

High Downs risk in twin pregnancy

50 replies

Mermaid36 · 16/02/2016 21:55

I'm really not sure where to start.
Currently 17+5 with identical twins.

Couldn't get NT measurements due to the lateness of my scan date (thought I was 13 wks at scan, ended up at 14+5).

Hospital offered us quadruple test and mentioned that it wasn't super reliable, but would give us an indication.

Results came back today and we are classed as very high ris for the pregnancy - 1:18 (as identical twins they will either both have it or not). Hospital want to know whether we want an amniocentesis, but there is an increased risk of miscarriage with it being twins (1:50) and if I do miscarry, I'll lose both babies.

There is so little information on Downs risk in twins and I have no idea what to do or where to go.
I have looked into paying for the NIFT test, but if it's not super accurate, it's a waste of £500, as we'll still end up having to have an amniocentesis.

DH thinks we should have the amniocentesis, regardless of the miscarriage risk. I don't think I could live with myself if the babies turned out to be non-Downs and we lost them both.

I don't even know what we would do if we got a 100% positive diagnosis of Downs. I've only just got my head round having twins anyway (natural conception, no twins in family, first pregnancy, complete surprise). I'm honestly not sure if I could deal with 2 special needs babies/children (and I am totally aware of how precious and shit that sounds).

We have a consultant appointment on Thursday to discuss the options, but I really don't know what to expect or ask or anything. I'm in complete bits and have spent the whole afternoon and evening in tears, waiting for DH to get home.

OP posts:

KittyandTeal · 17/02/2016 17:58

I'm glad you've booked a test, hopefully it will put your kind at rest, and if not you'll have a bit more information to help decide what you want to do going forward.

In the mean time there are lots of posters here who can point you in the direction of accurate websites/information about having children with Down's syndrome.

andadietcoke · 17/02/2016 18:16

I had the quad tests for multiples but was told they weren't at all reliable. One of my levels (not HCG, the other one... Papp-A?!) was off the charts; to this day I still don't know if it was good or bad. I looked in to the harmony test and was told there was no point but my twins were DCDA and I think it was because they wouldn't have known which twin was affected, so maybe it's different with ID twins.

I wanted to know so I could be prepared, and fully informed about their potential needs in advance.

Original poster

Mermaid36 · 17/02/2016 18:23

dietcoke ours are identical, and we've been told that they'll either both have DS or both not, so a NIPT should pick up the results for both...

OP posts:

KittyandTeal · 17/02/2016 18:29

I guess that must be right, if id twins come from the same egg that that egg will either have 3 of chromosome 21 or 2.

I guess the 1:18 although it sounds and looks very high risk if the quad test is so unreliable it could easily be totally clear and nothing wrong.

Did they find any soft markers at the scan?

Original poster

Mermaid36 · 17/02/2016 18:36

Haven’t had an anomaly scan yet - on 2 weekly scans to monitor growth and check for twin-to-twin transfusion syndrome.

Due a scan on Monday at 18wks....

OP posts:

KittyandTeal · 17/02/2016 19:27

They should be able to pick up some major anomolies earlier than 20 weeks if they're looking.

Did they find nasal bones at 12 weeks? (I know you didn't get the combined test but did you get a scan at 14 weeks?) Any other indicators? I'm surprised they've not looked in a bit more detail with the 1:18 risk

Original poster

Mermaid36 · 17/02/2016 19:31

We've had 2 scans and as far as we know, everything has been fine - no one has mentioned any issues/problems with the babies (other than needing to watch out for the specific twin stuff)

OP posts:

Original poster

Mermaid36 · 17/02/2016 19:32

We didn't get the nuchal measurements though, as I went for the first scan at 13 weeks and found I was 14+5 and the twins wouldn't get in the right position...

OP posts:

WhoTheFuckIsSimon · 17/02/2016 19:37

Was about to say I work as a midwife and we don't do the quadruple test where I work on multiple pregnancies. Is the harmony test the same as the nift test?m I thought harmony was accurate?

WhoTheFuckIsSimon · 17/02/2016 19:38

And yes they can normally do an anomaly scan from 18 weeks so I would be asking for one on Friday and look for all the markers.

Singsongsungagain · 17/02/2016 19:43

"I would go ahead with the pregnancy if I were you and don't rule out putting them up for adoption if they both have down's".

You see it's that sort of attitude I find difficult to stomach. These are your babies- yours. Made by you. Why should any disability make them less worthy of your love as a parent?

Nightfall1983 · 17/02/2016 19:45

I haven't read the whole thread because, as a parent to a babies with (pre-natally diagnosed) Downs Syndrome I find it a little upsetting and I don't want my own emotions to colour this basic info that I want to share:
If you have the NIPT (harmony-type) test you do not then 'have' to have an amnio if it is positive!!! I didn't. It isn't considered to be diagnostic but in time I'm sure it will be, it's over 99% accurate. Yes you would need an amnio if you decided to terminate (I guess) but at that stage you would already have made the decision and the amnio is just a box-ticking exercise. Also is it possible to get the NIPT on the NHS, again, I did. I hope you make the best decision for you, whatever that is.

Original poster

Mermaid36 · 17/02/2016 19:46

who Harmony is a brand name for the NIFT - after looking, there are about 4 different brands available in the UK, all doing the same test - pretty much only available through private clinics etc. They rangel from about £250 to £500, upper end for multiples.

OP posts:

GaryWilmotsWedding · 18/02/2016 13:47

Mermaid So sorry you are going through this. I had the Harmony test last year, and as has been said it is over 99% accurate. You will probably also find the scan the private clinic does at the same time is more detailed and revealing than the NHS ones. The picture was literally clearer on the one I had, and the sonographer spent a long time looking for soft markers too. As PP have said, I would imagine you would have a fair chance of seeing some soft markers at your stage of pregnancy. As I had a positive result for T18, it made the choice to have a CVS easier as we just needed to know.

I don't want to be blase about the money as it is a lot and everyone's situation is different, but honestly I think I would have paid many times over for the test if I'd had to as I was so incredibly desperate for information to help our decision making. We were talked through everything the sonographer was seeing at the private scan and she trusted us to understand that some of what she was saying was conjecture and not fact. IME, the NHS are not particularly good at realising that you are capable of understanding medical terminology and research and then using it sensibly. They therefore choose to tell you very little. I'm glad you're having the test- I really don't think you'll regret it and I wish you lots of luck xx

KittyandTeal · 18/02/2016 13:53

I agree Gary. My 10 week scan at the fmc was possibly more detailed than the NHS 12 week scans I had in the past.

It's also a bit more thorough as they are specifically looking for markers, for example liver blood flow which the NHS doesn't routinely do.

It is a lot but I agree, if you can find the money it is definitely well spent. And like they say, it's not licenced as a diagnostic test but a positive screen for T21 would mean your baby has it pretty much.

Please come back and let us know how you get on 💐

GaryWilmotsWedding · 18/02/2016 14:04

Should also add that at the time I volunteered to take part in the IONA trial the NHS has been running whilst we were having the private test. The NHS cannot give you your results as it is a proper medical trial but I wanted to feel useful at the time! Our NHS consultant said she couldn't believe it was taking so long for the NHS to adopt it as it was so very accurate. When we got our private results she wanted them sent over to her ASAP and was comfortable 'authorising' the termination based on those alone (although we then had the CVS too). I add this in case you get a negative result and think 'what if I am that 1%'!. In that case, I would look to the results of the scan too, and if no soft markers were found I would rest easy and enjoy your pregnancy xx

Original poster

Mermaid36 · 18/02/2016 14:46

We've seen the consultant now, and got some answers...but she still can't tell us why we were offered a test that is notoriously unreliable for multiple pregnancies...
The senior sister midwife had never heard of the NIPT tests (or any brand thereof) and the consultant was so-so about them.
I've got my MoM results from the quadruple test, and they look crap, but apparently that's because there is no actual baseline for twin pregnancy on the tests...

We're at the private clinic on Monday now for the NIPT and will get our anomaly scam in 2 weeks (although we have a scan on Monday anyway).

We've decided to put it out of our heads as much as possible - we can't influence the outcome or do anything about it yet, so I don't want to waste brain-space or what little energy I have on worrying about something I can't change...

OP posts:

Hippahippahey · 18/02/2016 15:00

Good luck for Monday mermaid, I think you are doing the right thing trying to put it out of your head for now.

I'm really surprised that they offer the screening in multiple pregnancies in some trusts, it was explained to me at my booking in appointment that they weren't used as they were so unreliable in multiple pregnancies.

KittyandTeal · 18/02/2016 15:04

That's a good attitude to have. There is nothing you can do now and worrying won't change anything.

Try and have a peaceful few days. Good luck for Monday 💐

GaryWilmotsWedding · 18/02/2016 15:05

I'm so sorry they have been so crap...I knew we were going to be up against it when we saw the 'specialist' NHS midwife, asked a few very basic questions and she said 'oh, are you doctors?'! (we are not remotely 'medical'). She had never heard of Parvovirus or Toxoplasmosis so the lesson I took away is that you need to educate yourself and push for answers. Hopefully Monday brings some information and reassurance xx

Original poster

Mermaid36 · 18/02/2016 15:44

Gary yes, I think our medical team have been surprised at how on the ball we are about stuff as well...We live in the nice bit of a fairly deprived northern area, and I guess not all patients are particularly well educated or well read....

I quoted a couple of studies I'd read up on today concerning risk rates and the (multiple birth) consultant was very taken aback by the research we'd done...

OP posts:

Oysterbabe · 26/02/2016 08:36

Best of luck

Pannacott · 26/02/2016 09:40

A 1 in 18 chance (Downs) is higher than a 1 in 50 chance (miscarriage). I'm just going to present the alternative view, which I know is going to be very unpalatable to many. Downs can present with very mild or very disabling symptoms. The level of need can be (but isn't always) very high. Lots or marriages break down as a result of having children with a disability. The support for families in this country is really poor. I had a friend who terminated a pregnancy with a chromosomal abnormality. It was a very difficult decision, and she felt very guilty, but her and her partner did not feel that having the child would work out well for any of them. Some factors that might make a difference: are you financially comfortable? Do you have much family support? How would you feel not working and being a full time carer? Are you and your partner in agreement about how you would manage? Did you struggle to get pregnant this time? Would you think of having more children? How many? How would you feel about them having two siblings with SN? What are services like in your local area? Would you move? I personally would want to know one way or another, but I would also consider whether to go ahead with a pregnancy or not if I knew there was going to be a problem. Good luck, it is a difficult place to be in.

DeoGratias · 26/02/2016 12:19

And just to add to Panna's points there is the third option. I think 1 in 18 means loads of chances (17) the child will be fine so option 3 is better- if they are down's babies then if you really cannot cope you could have them adopted immediately after birth.

FleeBee · 26/02/2016 12:36

If you google the twincess campaign it's a family with identical twin girls with DS they might be able to help you if necessary
Good luck

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