1:20 risk - what should I be asking about at the appointment

[StAlphonsosPancakeBreakfast]

I'm 13+4 and have been told following my NT scan and bloods that my Downs risk is 1:20. I know this is still a game of numbers but I am just panicking a bit at it all, as you can imagine.

I'm 40, this is my first pregnancy, the NT result was "normal, but on the high side of normal".

I'm waiting for the midwife to call me with an options appointment and I wanted to know if you think there's anything I need to know about or ask when I have it.

I've thought of a few things to ask, but am I missing anything?

• CVS: I understand I have to be 13+6 or under to have this, is that right?
  
• Amnio: is it horrifically painful, and do the results come back quickly?
  
• Is this just a DS risk result, or is there anything else involved (PS, ES etc.)?
  
• What is my cut-off for a 'medical' termination (I don't know what the term is exactly? Not having to give birth, basically)?
  
• If I was to terminate and get pregnant again, is there anyway of predicting my risk in a subsequent pregnancy (not likely given the years it took to get here, but never mind)?
  
• If I chose not to terminate and the results were positive for DS, how long would I have to wait to find out how severely affected the baby was?
  

God, this is just so surreal. Can anyone help? I am sort of half in denial, half in panic.

[Nellyinwellies]

I went thought this so I feel for you. It was a horrible week. I had the amnio and it was no worse than any normal injection (I couldn't watch it either though!!) Got the results in three days. The odds are on your side. All was well for us, and I hope the same for you.

[helterskelter99]

We had a cvs
Yes under 13+6
I think you have to give birth over 14 weeks but I had a general despite being on the cusp but our baby was v deformed
The consultant spot was just about the cvs we had a v detailed scan and they were v clear about the problems and what they meant ( basically because of all the issues our child had no chance of surviving) we had a heart defect and an intestine issue neither of which were picked up on previous scans

The vast maj of friends have had tests and got the all clear so fingers crossed it's the same for you good luck xx

[StAlphonsosPancakeBreakfast]

Thank you so much, and helterskelter I am sorry you went through that, it's awful.

[Husbanddoestheironing]

Risk is hard to assess - risk of 1 in 20 is still 19 out of 20 not affected. A portion of the calculated risk factor is, I think, due to maternal age, so that will stand for any future pregnancies too. I would be pushing for your appointment to be as soon as possible and ask all these questions then. personally I would want to have a confirmed result from CVS or amnio before making any irrevocable decision. Being an 'older' mum to be, have you considered the possibility of this issue already? Or discussed it with your partner? If not it might be time to research some facts about all the options (including proceeding with an affected pregnancy) before you have to make any decisions. You might want to be selective about who you share with in RL too (but I guess that's what mumsnet is for!) It's a very personal thing and not a choice that anyone can truly make until they are in that position. Whatever happens, I hope it works out well for you all

[Grittzio]

I went through this with my first pregnancy at 38 after 6 years trying with DS, 1/90, (IVF), yes I was worried about amnio but baby slept and was fairly straight forward, it doesn't hurt, make sure you have plenty of bed rest after. I was able to relax and really enjoy my pregnancy after. DD -2nd pregnancy, (natural) age 42 was given a risk of 1/1100 so I didn't bother with amnio. One bad result didn't mean subsequent bad results in my case. Good luck, it's a horrible, worrying time, only you can make the decision. X

[Indantherene]

My risk in my last pg at the age of 42 were 1:24, so similar to yours. I did panic but somebody said to me, look at it the other way round. If you were told you had a 1:24 chance of winning something you'd say it wasn't likely you'd win.

My DH wanted amnio to be sure. I didn't. They did a detailed colour scan of the heart to check for markers and said everything was ok but I ended up opting for amnio.

Other people say it doesn't hurt but I found it painful. Worse bit was the cramps afterwards expecting to miscarry at any time. The initial results came back fast. I think it takes a full weeks for the full results, but they have a good idea from the initial ones.

I did find out afterwards that just being over 40 will give you a dodgy blood result so I wouldn't make any major decisions on that alone. Have the amnio if you are at all concerned.

[KittyandTeal]

I'm sorry you are going through this worrying time.

I'm sure lots of us can answer your questions, however, please have a look at arc if you haven't already. They are amazing and will be able to answer all your questions.

I had a tfmr at 22 weeks in jan after our dd2 was diagnosed with Edwards.

If you are high risk for ds it means that your papp a is low but hcg is high (usually) the indicators for t13 and t18 are both low Papp a and hcg. Therefore high risk for t21 doesn't automatically give you a high risk of the other 2.

Amnio is uncomfortable and weird but not painful. They told me they don't bother giving local anaesthetic as that injection is more painful. It's true.

My amnio results were fast tracked, we were due them in 2 days but waited 3 as a positive needs re screening and therefore is delayed.

If your results are positive for ds they should be able to give you an idea of some of the issues around 20-22 weeks. I imagine you will be referred to specialist scans at somewhere like kings.

If it is positive for ds then you will automatically be at a higher risk for your next pregnancy. I have been given a baseline 1:1000 for my next pregnant compared to the baseline 1:8000 for general public. That goes up every year.

It is a horrid time waiting for results and making decisions. Please feel free to pm me if you want a chat.

[gingerbreadmam]

i dont know how accurate they are but im sure ive read on here that harmony tests are more accurate. not sure how long they take or if they have the funds but could be worth looking into.

[sparechange]

Sorry you are going through this.
My results were a slightly lower risk than yours, but we opted to have a Harmony test, but also had the amnio. In all honesty, the amnio wasn't that bad. The needle is huge, but I shut my eyes through the whole thing, and the most 'painful' bit was the alcohol they used to clean my skin with stinging when the needle pierced the skin. The rest of it was fine, and they immediately did an ultrasound afterwards to show me the heartbeat was still there. The risk of miscarriage from an amnio is often quoted at 1% but the reality is that it is hugely down to the skill of the consultant performing it, and the good ones do thousands without anything going wrong, so check if the person performing the amnio or CVS is experienced in it.

With regards to a termination, there are two sorts. The surgical termination is when they knock you out and remove the fetus. This can usually be done up to about 18 or 20 weeks, but varies from hospital to hospital, although a Marie Stopes will do it up to then if the hospital won't
The other sort is the medical termination or induced miscarriage, which happens after 16 weeks up until term, and is when they give you drugs to start a miscarriage and then you give birth vaginally. This often has to take place on the labour ward, so that might be something to check as well - would you have to be around labouring women if you went down this road.

Keeping everything crossed for you, and hoping you get the answers you want

[StAlphonsosPancakeBreakfast]

Thank you so very much, you're all so kind and those answers are extremely helpful, I really appreciate it.

At least I've been able to get an early appointment tomorrow, and my partner will be able to make it (he's currently hundreds of miles away for work but going to drive through the evening/night to get here) so I am hopeful now that I'll have some support, which wouldn't have been the case otherwise.

Everyone I've spoken to at the unit so far has been really nice, so I am hopeful at least that they'll be kind about it all.

[KittyandTeal]

It may not happen (I truly hope it doesn't) but if you have a medical termination there may be a separate room designated to women giving birth to still born babies.

I didn't have the surgical option as I was too far along. However, we did have use of our hospitals sands suite which meant I was there before and after delivery. I delivered on the labour ward but was taken in though the staff way and put in a room away from other women.

I also got to spend the night with my dd2 which is amazing.

I know not all hospitals have these options and if it gets to that point you have to decide what option is best for you but make sure you ask about each one carefully so you can make a fully informed choice.

Saying that there is a high possibility of a cvs or amnio coming back clear.

I may be wrong but I think a harmony test only works between certain weeks, it's definitely worth asking about though.

[Husbanddoestheironing]

Am really glad you have an appointment tomorrow, I hope they are able to answer all your questions and discuss your options. Best wishes whatever It brings

[StAlphonsosPancakeBreakfast]

I'm having a CVS on Monday, but the hospital also have me booked in for the Harmony test if it's a thing that my placenta isn't in the right position when I get there, so I feel I have a plan and a backup plan.

To be honest, what made me really emotional was how well I would be looked after if worst came to worst and I had to have a TFMR: the hospital has a separate little apartment with its own entrance so that you won't have to be distressed by women in much happier situations.

As I'm Irish, and TFMR is illegal in Ireland, what really moved me was: I'm not being treated as a potential criminal (the jail penalty for 'inducing an abortion' was recently changed to fourteen years), but as someone who needs to be shown compassion and given assistance. I feel very moved by that, and very frustrated.

Thanks again for your support and help on this. The appointment was very informative, and I really felt very looked after.

[KittyandTeal]

My dh and I were both very moved by all the caring and compassionate people we have come across. It has made our situation much more bare able.

It is so awful that women in Ireland in my situation would have the choice between becoming a criminal and facing jail time or waiting for either a natural still birth or giving birth to a live baby who died during labour or making decisions on how to keep our baby alive and or comfortable for as long as possible.

Every woman's choice is different. I totally respect those who decide to ctt but for me I made a choice knowing that I was saving my daughter from a short life of pain and suffering (for her it most certainly would have been because of the way her Edwards presented)

[WipsGlitter]

I have a child with Down's syndrome. It's not the horror story some people make out. People with DS can achieve a lot. I'm also in Ireland and the upside of "TFMR" bring illegal is that there is a vibrant and thriving community of people with DS and they are very much welcomed and part of life here.

[Trooperslane]

Nothing better to add. Just been through similar recently (still off work) and sending love and support.

It's a totally shit situation, but your odds aren't awful. Hope you're getting some sleep xxx

[StAlphonsosPancakeBreakfast]

I was thinking more of the ES and PS that I'll also be investigated for, Wips, but I very much appreciate not being forced to continue any pregnancy against my will.

I feel that as people with DS appear to me to be much more visible in Ireland than in the UK, I have the advantage of not automatically considering the condition a terrifying unknown. But I'm profoundly grateful that I'll have all the support I need no matter what the outcome and no matter what my decision, and I think that should be the minimum any woman in my position should be able expect.

[WipsGlitter]

The termination rates for DS in England are 94% so that's probably why it's less visible.

[TheBabyFacedAssassin]

If you do decide that you want a TFMR there are some fantastic organisations who will help you make the necessary arrangements, the abortion support network in particular. I truly hope your results come back clear and you don't find yourself in a position where you have to make that decision.

[KittyandTeal]

If you are in England, Scotland or Wales (which I'm assuming you are) you don't need to contact any outside agencies to have a tfmr. It can be organised by the hospital.

If you want a surgical one after 20 weeks your hospital may refer you to a Marie stopes as often they have docs qualified to carry that out not available to the nhs.

I really hope your results come back negative. If you are looking at Edwards or pateu then it is a little bit more black and white than Down's syndrome.

Arc are a wonderful charity if you need more professional advice or someone to sound off to. They've really helped me so far.

[FiftyShadesOfGreen4205]

The odds can seem very frightening. We were given 1:5 and had cvs. All clear, which was a relief but the wait and the whole process was just horrible. I had great support from Mumsnet (waves at Kitty) and also Arc. My thoughts are with you, I hope you get the result you want xx

[Monten]

So sorry you are having to go through this. I've had a CVS and found it fine, it hurts a little but really not that bad. I really hope you have a positive outcome.

[SaggyAndLucy]

I too have a child with DS.
She's the best thing I ever did! in answer to one of your later questions, you don't really find out 'severity'.
Every child develops differently. Some display developmental delays earlier than others and some find just some things harder. There are a whole load of other issues which are associated with DS which can affect their health, for instance DD was born with a serious double hole in her heart. But as with development every child is different.
The fundamental thing to remember is that you will have a baby. Small, smells amazing, needs feeding a lot and poops for England. All that other stuff really is just side issues!

[Monten]

I hope your cvs went smoothly op

[farfallarocks]

All crossed for you, I was going to suggest the Harmony test as its totally non invasive and no risk of miscarriage, but it takes 2 weeks whereas CVS I think is 48 hrs?

Best of luck.