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 😥

@SarahD19 that's brilliant news :) it's really concerning that the CVs diagnosed Edwards though; heartbreaking decisions could have been made on that alone :(
I don't blame you, when I was waiting for my second lot of results I was exactly the same. DH encouraged me to relax as the first lot were clear,but it wasn't that easy!
🍀

@Nanmumandmidwife hi, I saw in one of your posts that you said a nuchal measurement of under 3.5 is normal? I was given a measurement of 2.7 and with the combined screening told I'm 'high risk' with 1:102. The Midwife was absolutely lovely but gave me so much information about options and ARC etc I have completely freaked myself out and convinced myself this is really high! I'm waiting for harmony results and driving myself crazy!! 😩😩

@BabyBird20 yes, unchallenged under 3.5mm is considered “normal” but that is only one factor in the combined test. I am happy to look at the actual result for you if that would help. The result uses your age, the nunchaku measurement and two hormone levels to guesstimate a chance. Frankly a guesstimate is all it is.
Basically the chance that your baby is affected (which condition?) is less than 1%, so very good odds at this stage.
Ask whatever you need to, by PM if you prefer

@Nanmumandmidwife Thank you so much! It was 1:102 for downs, and lower for the other two. Haven't had the letter through yet as they called me Monday to let me know I was high risk and we decided on the harmony to find out more before considering anything invasive!! I don't think it would change anything if I was confirmed with DS but I want to be as prepared as possibly for any eventuality!!

Just realised that Mumsnet changed “nuchal” to “unchallenged”?!
Glad you understood what I was saying.
Glad it was Downs because Edwards and Pataus both usually have very poor outcomes. If you would plan to continue anyway, there would be nn obvious benefit in doing an invasive to confirm a high chance NIPT (Harmony) result. It would almost certainly be correct, so no real justification to expose baby to the risk of an invasive. If after birth there is any doubt it is easy to do a blood test for baby.
Let me know how things go, and ask anything else you need to.

Hi,
I’m new to this I have a daughter who was born at 32 weeks due to pre-eclampsia, currently pregnant with baby number 2, I had a phone call to say I was high rosk for Edwards and Patau’s I have done so much research!! I was not given any measurements etc apart from the fact my HCG & PAPP-A are low and this has given them the indication that my baby is at high risk with a 1 in 5 chance but on a separate phone call they said it was a 20% chance, I have my amniocentesis tomorrow morning and I am absolutely worried sick it’s making me ill, I lost my dad nearly 8 weeks ago and I’m 26 this baby and my daughter are giving me the only hope I have left, I feel so lost and so alone, I know a few people that have had the test and everything has come back fine but I am worried as the odds they have been told are very different to mine, I don’t actually know how to approach this situation and everyone is telling me it’ll be fine and my results will be fine but I cannot help but feel that after everything me and my family deserve a break and some good news

Sorry for the ranting I just don’t know where else to turn

Xx

@Leona934. I’m so sorry you’re going through this. I understand to a large extent as have been going through this myself in the last 7-8 weeks. If I can be of support at all please private message or message on here.

I was identified as high risk due solely to HCG and Papp-A levels. I’ve since found out it is likely I have a condition called Confined Placental Mosaicism, which means baby may be healthy but the placenta faulty with Edwards chromosomes (Trisomy 18). I am awaiting further tests to verify this diagnosis.

@Leona934 what a very hard place you are in right now. I am so very sorry for the loss of your dad. I hope that the amnio went smoothly yesterday. Did they see anything of concern on the scan? I imagine your preliminary results will be available by the end of the week?
There is no right way to cope with this, but know that on here there are many people who will have insight into what you are going through. I am a specialist midwife working in this field and am always willing to discuss things by PM if you want to talk privately.

@Nanmumandmidwife after your advice. Just had 18 week anomaly scan. Consultant was using a different scanner as hers had broken and this wasn't as good as her previous one. Anyway! Everything looked fine but stomach wasn't filling up, she said to come back in 15/20 mins but was still the same. Getting rescanned in Friday. I'm sure when I was scanned two weeks ago she said about seeing the stomach bubble. How concerned should I be? Thank you xx

@Gemamy1984 not very worried, particularly if it was seen previously. Hopefully little one will be co-operative and swallow some fluid just before your scan next time. Great news that all else looks good.

Thank you @Nanmumandmidwife, appreciate your quick reply. Thankfully no soft markers showing and everything looks to be where it should be. I'll update Friday! Thanks as always for you support!! It's invaluable xx

New to mumsnet and I’m glad to have come upon this site. Lots of good information being first pregnancy.

Has anyone had extremely high bHCG and average PAPP-A values? I’m 38 and at 14 weeks. My first trimester screening gave me odds of 1:180 and considered at risk. Age alone would put me in 1:150. Doctor Has ordered the Harmony Test.

My 12 weeks blood test
BHCG - 9 MoM
PPAP-A - .59 MoM
NT - 1.1mm

Is the high bHCG and a low PPAP-A a marker for DS or other pregnancy complications? I’ve seen only 2-4 MoM for bHCG thus far. Any thoughts?

Some forum had said high bHCG could be from bleeding but I didn’t have any bleeding this first natural pregnancy. I’ve tried two cycles of IVF and 6 IUI and all failed.

@tedster1022 hi there, I'm not sure on the two levels but your NT scoring is very promising. @Nanmumandmidwife can you help out? Xx

@tedster1022. The problem with the combined test is that it works on averages. You are not “the average woman”, you are you! It may be totally normal for you to have that level of bHCG. Your PAPP-A is unremarkable and your baby’s NT is very much in the normal range.
NIPT (Harmony is just one tradename) is far more accurate and ignores all the stuff about averages.
If the NIPT gives you a low chance of Down’s syndrome there is nothing in these results to suggest other issues.
Hope that helps. When do you expect to get the Harmony results?

@Gemamy1984 thank you ;)
@Nanmumandmidwife thank you! It’s good to know combined testing is average. My doctor pushed Harmony test to Monday so another long waiting game. I was referred to a genetics specialist , unbeknownst to me, so hopefully they’ll be able to clarify some things. I think they will pretty much tell me what my fertility doctor had said, if Harmony test comes back negative which there’s a good 95% chance then all should be clear until 18 or 20 week scan. If not then it’d be amniocentesis for a diagnostic test. :( hoping for the best.

Hi,
I just wanted to ask if anyone had experienced booking their 12 week scan with the nuchal combined scan and the sonographer not being about to get the measurements because baby wasn’t moving and in the wrong position?
I had mine yesterday and after walking/going to the loo and back/ wiggling my hips nothing made baby move so we only given the option of a quad blood test at 16 weeks?
I have heard that this isn’t as accurate as the combined test and just wondered if this had happened to anyone else and if they were allowed to go back and get rescanned?
Thanks for your help
Alayna x

I’ve heard of not being to get measurent because the baby was moving too much. Have you had progress after?

I had to go back for a redraw. The lab said there wasn’t enough fetal DNA in my blood. I’m worried since I was at 15 weeks when I hand my test done. I’m now 17 weeks so keeping my fingers crossed. ;( another 7-10 days wait. This is so stressful.