High risk following 12 week screening advice please

[Gemamy1984]

Hello,

After some advice- I’ve just received a call to say I am high risk with my pregnancy around Edward’s and Patau’s syndrome.

Nuchal Translucency- 1.9
HCG- 0.68
PAPP A- 0.18

I’ve been given a 1:133 chance.

Advice please on what to do next and any experiences people have had that they would mind sharing.

A very worried mum to be 😥

Hello, I'm so sorry to hear you are going through this worrying time. I was low risk on my screening but this increased with my 20 week scan. The next steps were a referral to kings college hospital, another scan in which the anomalies were detected and an offering of amniocentesis. This is the procedure of testing the amniotic fluid which gives a 99.5% indication if your baby has a genetic anomaly. They may also mention the private harmony test (blood test) which is between £400-£1000 and is 95% reliable I think. There is a small risk of miscarriage with amnio. Reportedly 1 in100 but according to my consultant it's closer to 1 in 1000. It was the hardest decision I've had to make but I got my results last week and all was clear.
Ask loads of questions and take your time to weigh up all the options.
Happy to answer any more questions. Feel free to PM me. 🍀

Have they offered a cvs ?

I had a 1:25 of downs and 1:80 for the other 2 at my 12 week scan I hat a nt of 4.1 I had amnio 2 weeks ago today got my first lot of results back for them 3 and all clear and I'm having a girl I think if you need a deffinente answer CVS or amnio is the only way I mentioned the harmony test to my midwife she explained it all to me and said I could have that then decide but like she also said even if my results came back 1 in 10,000 somebody has to be that one so for me I skipped it and went straight for the amnio

Thanks for your replies, I appreciate you taking the time to comment and share your experiences. They have said there are two tests I could have, CVS and amnio. Lady I spoke to said that abnormalities can be picked up at anomaly scan so I was thinking of waiting til then, see if there's anything further picked up then go from then? What do you think?

So pleased both your results came back clear 💞.

@Gemamy1984 I think that's a good idea. If you read up about amnio, I think it's deemed slightly more risky particularly between 15 weeks and if carried out before then it can lead to club foot- ironically mine was conducted after 15 weeks because my lo has a club foot.
I think if I were in your position I'd wait until the anomaly scan, and based on the screening I'm sure they'll be incredibly in depth and look for all the 'soft markers' of these conditions. That's not to say I wouldn't be worried though, so make your your midwife is aware of what is going on and can support you. Even awaiting my final results I was a mess, trying to carry on as normal but everything was playing on my mind xx

@Gemamy1984 I think it all depends of if the result would effect your decision to carry on with the pregnancy and some chromosome issues are alot worse than others the risk of miscarriage is 1:100 but that's a national average ask your consultant what his odds were I went to a different hospital for mine done and they do this all day everyday for me I wanted the test sooner rather than later as the result would have effected my choice to carry on and if the worse did come to the worse I would rather terminate at 16 weeks then over 20 weeks. Every woman is different and has different views and ways to proceed you have to do what's right for you and if you would carry on regardless of the results then try forget and enjoy your pregnancy unfortunately even with the detailed scan they can pick up soft and hard marked but it's still only a maybe answer you will only get a yes or no throu the amnio I have known women who had a 1:3 chance her baby was fine but I had another friend who had a 1: something like 33thousand and unfortunately her daughter has severe disabilities even tho no soft /hard markers were picked up my advice would be to get as Informed as u can on the different outcomes and how you would proceed and go from there hope it all works out well for you xx

Dd1 had Patau syndrome I'm the days when they didn't screen for it so it was first detected at the 20 week scan. The sonographer picked up lots of abnormalities and referred us to fetal medicine. Fetal medicine agreed with the sonographer and we had an amnio which confirmed Patau syndrome. Your scan will give you a better indication but wont be definitive so I'd advise weighing up whether you are OK with the uncertainty or need the clarity of amnio or CVS.

Thanks again everyone. I'll take on board your advice and weigh things up xxx

@Gemamy1984 There are basically 4 options for you right now but how/what you decide will be informed by what gestation you are right now and, as PP has said, what the result might mean for you.
The options:
1 is to just wait and see, and reconsider additional test if there are soft markers seen at anomoly scan
2 have CVS in next few days (this almost always gives a definite answer)
3 wait until 15 or so weeks and then have amnio (this gives a definite answer)
4 have NIPT (non-invasive test) - this is a screening test so does not give a definite result but is hugely more accurate than the combined test which you have had.
You need to discuss this in detail with someone who really understands the issues and the pros & cons of different options. I am a little surprised that NIPT was not mentioned to you, even though it is not available routinely in the NHS yet. Have you been offered the option of a review with a fetal medicine specialist?
Have you been given information about ARC who are an information and support charity? www.ARC-uk.org see their "tests expained" section
I am a midwife specialising in screening and fetal medicine, so please feel free to PM me if you would like to discuss details of your situation privately.

Please don't panic.

I was 1:80 and deemed "high risk" but with my rational non pregnant head on, I wouldn't ever have said that 1:80 was high risk. I had a CVS test and it was nothing short of traumatic. I'll never forget the sound/feeling of the needle puncturing my uterus. Shortly after the procedure, I passed out in the foyer of the hospital.

I said to my DH that for the next pregnancy I didn't want to know because I'd never feel pressured to get that done again.

I'm not trying to scare anyone off it, I just felt an enormous pressure from the health care staff to have the test like having a child with DS would be such a disaster. Now I couldn't care less. The test was the worst medical thing I've ever experienced in my life.

Never. Ever. Again.

@FloreanFortescue your experience sounds truly awful and you clearly were not supported as well as one would hope.

I think it is fair to say that there is very wide variation in the quality and "directiveness" of information given to women in this situation. The team from PADS (Positive About Down Syndrome) have recently made an excellent short film about this.

Having worked as lead midwife for screening in a large NHS hospital I hope that none of the women/couples I worked with felt that I was pressurising them. The decision what to do is so very personal. I now work as an independent midwife focusing on pregnancies where there are screening concerns or confirmed issues for the baby and have these conversations with many people. I support those who continue their pregnancy knowing their baby has complex issues as well as those who opt to end the pregnancy when issues arise.
Fundamentally though, it is important to be sure that the specific condition is considered in detail. There is a vast difference in the life expectancy and life experience for someone with Downs syndrome compared to someone with Edwards or Pataus.

Edwards and Patau deformities tend to be very obvious and the sonographer searches for them during the 20 week scan, so they will spot them. If you want some reassurance in the meantime try and see if you can book a private NIPT test - many high risk women become low risk after an NIPT even if it’s not a replacement for cvs / amnio

Sorry ladies, my first post to Mumsnet and I have no idea what I am doing!

Nothing about NIPT. Lady on the phone was lovely but it was so much information to take in.

I've decided to wait until the 18 week scan (and yes it's with the specialist medical team)
and see if there are any indicators at the scan. If there is I think I'll look at an amnio. Unfortunately I do not have the money for the private harmony scan.

Neveradullmoment- sorry to hear about your DD1, can I ask if you continued with the pregnancy?

My head is up my backside!

Thanks nanmumandmidwife, I've got no idea how to PM you lol! Any advice welcome though!

Oh Florean, that sounds truly awful 😢😢😢.

Thanks again for all your messages, I really do appreciate it xxx

@Gemamy1984 at the top of each individual post (in the blue strip) click on message poster

Hi
I am so stressed I had a scan yesterday and the NT was between 3.1and 3.3
I’m 38 first pregnancy and did IVF to achieve
The nurse started getting really stressed and told me that I am high risk
Also told me that I was measuring 11 weeks 6 days not 10 weeks 6 days which I thought was strange as have the exact dates from ivf
Facial features were fine on scan
Waiting for harmony test results in 7-10 days
Any advice please

@olivia51. I really feel for you but I am not quite clear what the reason was for the major stress. An NT below 3.5 is considered “normal” Did you also get combined test results? Perhaps the hormone levels were unusual?
I would not stress over the supposed difference on dates - that is highly unlikely to have any significance.
Were scan appearances normal?
I’m happy to review results if you would like me to. I deal with these every day so pretty used to making assessments.
It’s a tough time for you, sending love

We had an NT of 4.7 - like some of you a very stressful and awful experience. We had CVS which was unpleasant but fine (I didn't hear the needle or have the same experience as the PP which sounded very traumatic) our 1:84 chance came back negative following the CVS - they not only look for the three major ones but also any problems with heart etc.

It's truly a horrible time I have so much sympathy for you. It helped me to think of it as a percentage chance - I hope it helps to think of your chance of an abnormality as 0.7%

Hi Everyone,

Just an update to say I've just had my 16 weeks scan with the Consultant Obstetrician and no soft markers we're showing. All looked fine and the measurements plotted against the graphs appear normal. She explained my high risk does not go away.

I'm so relieved!

Wanted to thank you for all your messages. I'm due to get my proper anomaly scan in a few weeks as baby was still a little small to go into the detail they need to see.

I'm praying that means we'll be ok for the rest of the pregnancy.

Gemma xx

Hello. I’ve been going through this for 7 weeks now and still no answers. Was 1/85 for Edwards & Patau. CVS diagnosed Edwards. Hospital referred me for compassionate induction and told me I could have a funeral through support at hospital for baby.

Then I was notified 2 weeks later that I have a rare diagnosis of placental mosaicism. Baby could be healthy after all. Amniocentesis was recommended. It couldn’t progress for a month due to medical complications. Finally occurred last week and been told as the sample is contaminated I’ve got to wait another 3 weeks for results.

Also referred to fetal cardiologist and genetics counsellor. In the meantime my life is at a standstill. Basically been told I won’t find anything out til Christmas week. It’ll be a bleak Christmas if the news is that my baby is fatally unwell... I’m going out of my mind.

Hi @SarahD19

Bless your heart. What a time you've had. I'm not sure what advice to give other than please just offload how you are feeling. I really hope its positive news for you xx

@Gemamy1984 thank you! I wish you all the best too. I’ve just had the all clear from fetal cardiology which is good to know. Development looks good which hopefully is a good sign.

@SarahD19 thank you very much. Well that sounds really positive. Gosh that's a really different conversation they had with you weeks before isn't it? Scary bless you xx

@Gemamy1984 I think the scary thing is it can all change very quickly. It had initially been a drastic change to positive when placental mosaicism was diagnosed as she has consistently looked normal in the 7 ultrasounds I’ve had. However it takes one marker, like a suspected heart defect for that picture to change... I wish you all the best. This is a really tough journey. Hopefully we’ll be holding our gorgeous bundles of joy in a few months and this will all be a distant memory for us xx

@SarahD19 so sorry you're going through this, and having to wait is the hardest bit :( my fingers and toes are crossed for everyone still waiting on results

@Ginandgingers92 Thank you. We’ve had some good news. They’ve been able to test the amniocentesis after all (we were initially told there’d be a 3 week wait) - the first results have come back clear. It’s feeling more positive now although I won’t relax until I get all the results back...