High Downs risk in twin pregnancy

[Mermaid36]

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.

Gosh, I don't know OP. What about phoning for advice?

http://www.arc-uk.org

There are worse conditions to deal with than Downs. I mean this in the nicest possible way but what would you do if complications in birth led to Cerebral Palsy? Would you have them adopted? I'm guessing not.

I appreciate my words are strong here but as someone who battled infertility personally I would have accepted my child however my child came.

Calling Arc is a good idea.

With regard to the risk of amino, is that an up to date risk? Only the oft quoted 1 in 100 risk of miscarriage for a singleton is misleading and I believe it's generally a lesser risk - it's worth asking the miscarriage rate of the individual doctor.

Ignore those who say you should be grateful regardless. Would they bollocks be so calm and accepting in the same situation.

I hope the appointment goes well.

query the 1:50 risk is what the midwife quoted me today. I know it's riskier having the test done on a multiple pregnancy, and I think the fact that the babies share a placenta probably makes it riskier still (as we have found out re other issues I can have in pregnancy)

That sounds really tough, personally I wouldn't have the test as the risk of miscarriage would be too high for me and like singsong says there are no guarantees when it comes to babies.

Pay the £500.

That's nothing in the grand scheme of things.

How many weeks are you now? The 20 week scan should pick up signs of Down syndrome so that might make your mind up to have the amino though if you have it now the results would be back by then.
I think you and your husband need to decide what you would do if the babies did have Down syndrome or if you just want all the information available.
Yes there are worse conditions but some babies with Down syndrome have severe heart defects needing surgery, have an increased risk of leukaemia and increase in dementia in later life along with the learning difficulties people are familiar with.
OP needs to make the best choice for her family.

I didn't have any screening for downs during my twin oregnanxy as I was told it isn't accurate for twins.

I wouldn't have had the test even if it was a singleton pregnancy so it wasn't an issue for me but I would definitely check the accuracy before you decide on your next steps.

If the nifty test comes back positive you will still need to have an amino as it is still considered and screening test and not diagnostic

I have two children now and had no tests for Downs. I do have a friend who has a little boy with Downs and who gets very upset by this desperation to eradicate the world of the condition. The only reason to have the tests is if you would abort. The only reason to abort is if you feel that child would have no quality of life with Downs which is just not true. There are absolutely no guarantees and unless you are prepared to accept that and love the child you get, you have to question whether you're ready to be a parent at all. Strong words I know and not intended to upset but this is an issue I feel very strongly about.

Id twins with DS; just to give you an idea.

m.facebook.com/ollieandcameron/

m.facebook.com/JulianandNoel/

Other than that i dont know what to say. I am sorry you have to go through this. I think you need to ask the question, if they do have downs, would you terminate? If yes, have the amnio. If no, dont.

If it depends, on degree of severity or something, you still have a little time. The 20 week scan can give you a much better idea of what you are facing too, nasal bones and other markers will be apparent.

Good luck.

hippa that's the frustrating thing - there seems to be a real lack of info for multiple pregnancies for testing/screening. We keep being told that the babies are at higher risk of fetal abnormalities because they are twins, but then there seems to be nothing to back this up etc, or no viable tests etc

I think it really depends on how strongly you feel about having 2 children with special needs. The odds are that they don't have DS, but what if?

If you feel that you have to know, then I would opt for the NIFT test, and if that still demonstrated high risk, you are then left with no choice but the amino if you want to be sure. It is a lot of money, but it will narrow down your options so is not wasted in the long term.

The only other options you have are to go straight for the amino now, where there is always going to be a small risk of miscarriage, or to wait and do nothing.

Nobody can make the decision whether and how to test - I know it is so very hard to know what's right.

But you do need to understand the limitations of any screening test: it will give you a risk and not any kind of diagnosis or certainty, even for the conditions that can be tested for (and there are many for which there are no antenatal tests).
A 1:18 risk also means a 17:18 chance of your pregnancy NOT being affected by Down's, so yes, a higher risk than maybe expected 'on average', but a 17 in 18 chance of having healthy children is not bad IMO (I had a 1:4 risk of trisomy 13 and 14).

IMO if you are happy to welcome your babies whichever way they turn out, then why torment yourself with more tests?
If you need certainty (whether to prepare yourself or in order to consider termination) then have amniocentesis done.

The questions you have to ask should include what is the miscarriage risk for the person who is going to perform YOUR amnio - national statistics mean very little. Also, what is the risk of the procedure being unsuccessful/needing to be repeated (I have no idea whether a twin pregnancy adds to the technical challenge).

FWIW I had CVS performed 3x @ 10 weeks and amnio 1x @ 14+ weeks and all was well - I did have every trust in my consultant and the team looking after me. I had also had 4 MMCs, none of which had had anything to do with any tests. So, the alchemy of making healthy babies continues to be a mystery to me….

V best of luck

Oh, and contacting ARC is an excellent suggestion.

Assuming as others have said you want to know either way (and i would want to so I had time to plan if it was bad news and to prevent unnecessary worry if it was good news) if you have the £500 pay for the test. It's a blood test so not invasive. My friend had it done with both pregnancies due to family history and found it the least stressful alternative.
All the best of luck for the rest of your pregnancy.

It's not just the quality of life thing, it's our family situation as well. I have a seriously/chronically ill sister who is constantly in and out of hospital (for the last 14 years) and there is only my mum and I on our side of the family. DH's family are pretty useless at actual family stuff. It's hard enough thinking about twins with no real family support to fall back on, never mind babies/children who need potential extra care for the rest of their lives.

We keep being told that the babies are at higher risk of fetal abnormalities because they are twins

What does a 'higher risk' mean? Truly, ask yourself that. You have a higher risk of being killed by a car than by an airplane, yet more people have a fear of flying than getting in to a car.
It is impossible to give 'certainties' for 'risk/chance' - the top placed horse in a race can win, people play the lottery against all odd of every winning it etc etc.

You will not find the answer you are looking for in tests or statistics. Anyway, you do not want to know what statistics can tell you, you want to know how YOUR babies are going to be and the truth is, the most advanced medicine in the world does not know that.

I have no idea why most of us put ourselves through all this , but there we are: most of us do. And most of us have healthy babies. And all of us love our DCs.

I'll stop now before I get too soppy…

I second what QueryQuery said - miscarriage risk with amino is operator-dependent so ask the person who would do it what their specific risk is.

Beyond that there's really not much help an Internet forum can give. This is a very personal choice, based on you and your husbands feelings about all the potential outcomes. Posters can tell you what they would do (or think they would do - not remotely the same) but everyone's feelings will be different and you have to decide based on you own what's the right option for you.

In a similar situation (not twins tho) I had the amino, because I needed the certainty, but it was a decision I agonised over - even lying on the bed having it done. Also wasn't sure what I'd do about a positive result but I needed to know. But that's me and other people would and do choose differently.

There are no absolute rights and wrongs here - good luck with whatever you decide.

pacific the whole risk thing really took me aback. We had a 20min meeting with the multiple birth consultant who basically scared us shitless with all the things that can go wrong with our type of twin pregnancy and the higher risk of miscarriage of both babies, and the higher risk of fetal abnormalities etc. No figures ever get mentioned, but we came out of the appointment feeling so down about the whole thing it was unreal.

When we looked into amnio, we discovered the risks are so much lower than the quoted. 1% is from Denmark in the 1980's before amnio was done under ultrasound guidance, more recent studies gave 1 in 10000 or negligible and that was assuming a range of operators, so the risks are likely very low, on the other hand you could still be the one.

I think the question has to be why do you want to know? if you would definitely terminate, the likely low risk may be worth taking. If you definitely wouldn't, the advantage of knowing if positive is to get good pregnancy management in place to reduce the risk of stillbirth and neonatal death, we did amnio for this reason and it paid off massively for us (DD had T18, we were low risk). A positive NIFT is fairly conclusive so could be used to replace amnio with the understanding there would remain some doubt.

Personally I'd think about a nipty test. The harmony test I've just had has a 99% accuracy got T21. The basically told me if I come back high risk it pretty much means the baby is affected.

Could you use this alongside more detailed anomoly scans done by a specialist?

I would second disillusioned, the stats quoted for amnios are very outdated. The doc who did mine said he had never lost a healthy baby after an amnio.

I understand the need to know as well, even if you decide to continue then additional scans and a care plan once they're born are a good idea.

Arc are fantastic and will have experience of twin trisomy pregnancies too

1 in 18 is not that high. I didn't have amnio with twins. I think I had an early scan which checked for a few defects but may be that was just for defects to spine.

Do remember that if they both have down's you have another option than abortion - you could have them adopted at birth. It is not a choice between potentially aborting non down's babies or not aborting them and keeping them if they have down's.

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.

We've booked a NIPT test at a private clinic on Monday, and we're seeing our consultant again tomorrow...We have a few questions about the 'risk' factors we've been given etc.

I've actually found out today that some NHS Trusts won't do the quadruple tests on multiple pregnancies because they are so unreliable - which makes me quite cross in a way...

My trust is one of the ones that doesn't offer the quad test for multiples I had assumed all trusts were the same so that is annoying confusing.