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High risk screening - Normal NT but high hCG, Low PAPP-A(74 Posts)
I'm new to this board, so apologies if I'm posting in the wrong place!
I'm 13w pregnant with my 4th baby (6th pregnancy, first two were ectopic & mc). My other pregnancies went without a hitch, other than the dreaded SPD.
With the other 3 I just had a Nuchal as screening, and all were very low risk. My hospital now does combined screening so this time I had bloods done as well. My scan was apparently OK and the Nuchal measurement was within normal range but my bloods made me high risk with a 1:78 chance of a baby with Downs / other Trisomies. My BhCG was double what it should be and my PAPP-A was half, apparently can be an indication of trisomies, but even with no chromosome problems this can lead to other problems in pregnancy such as IUGR, preeclampsia to mention just a couple!
I guess what I would like to know is this - has anyone been in a similar situation and come out the other side?! I have an amnio booked for 16w, but the waiting is driving me crazy and giving me too much time to think about the what ifs and if I am doing the right thing having the amnio at all!
Any words of wisdom would be gratefully received.
Hi there, I was given a 1:95 risk eating after combined NT and bloods. My NT at 11+5 was 0.7mm and whilst I don't know what my indiv blood results were, the fetal nurse told us there was nothing alarming about them....so we were at a loss as to why we were risked high. My age is 39 and I had a trouble free birth with my DD and I MMC prior to that.
So that was at the beg of Dec and we decided to go for the amnio at 16 weeks. That was carried out a week past last Friday and the initial results came back very quickly to say all clear. We're just waiting on the karotyping which takes 2-3 weeks. But for DS, Edwards and Pattaus, we are clear.
'luckily' for us, we had a v busy Xmas and new year so that helped with the waiting, but I didn't really feel connected with the pregnancy in case of the 'what ifs' but we needed to know otherwise we wouldn't have been able to cope or enjoy the rest of my pregnancy, and this will be my last whatever the outcome.
The amnio itself was actually fine, didn't hurt and over v quickly. The staff were brilliant where I was, and the risk of mc - whilst quoted at 1:150 - is actually much lower.
For us it was the right decision. For what it's worth, had one of the main three been diagnosed, we would have terminated. Lots of reasons for that which I won't go into here!
Good luck with your amnio, feel free to ask me any questions about it!
I had a high risk 1:15 result last year, mostly because of my blood results (but NT was 2.6mm so not exactly small either). Like you my Papp-a was low (0.39 MoM) and my bHCG was high (1.65 MoM). I had a CVS done at 12+3 and got the all clear on the initial results and the full karyotype. I then worried about IUGR etc but everything from then on was just fine. I had my little boy last April, weighing in at 8lb 6oz (bigger than my older son who had a low risk result) and he's 9 months old tomorrow.
I contacted Antenatal Results and Choices who said that there wasn't enough research to confirm a link between low Papp-a and growth problems. Also a senior sonographer told me that she'd not seen any such link either in her (vast) experience.
If you're concerned, you could do like I did and have a private scan later in the pregnancy (think I did mine at the start of the 3rd trimester).
I had similar bloods when i had dd. I was 38 and given 1:10, had a cvs at 12 wks, and came back clear.
Interestingly i had Placenta Acreta (where placenta is welded to womb) and i remember reading on the net about research linking Pappa bloods and placenta acreta.
Op good luck with your amnio, please update.
Out of interest anybody else have placenta problems?
Thank you for sharing your experiences.
I still feel very up and down about it all, the waiting for the amnio is the most difficult part - that awful feeling of anticipation.
I'm trying to keep hopeful that a 'normal' nuchal is a good sign. My other babies have all been 8lbs plus, so if all is well and I have a small baby, it might not be that small after all! Who knows what the future holds?!
I'm not at all squamish, so the amnio process doesn't worry me too much, other than keeping my fingers crossed that I don't miscarry following the procedure.
I'll update you, and thanks again for the replies
the waiting game is so annoying. I got my quad bloods back with 1:3 risk for downs.
First waiting for amnio, then waiting for the first 48 hours, so that membranes won't rupture. Then waiting for the two weeks to pass, so that no infection takes place in womb. Not to forget the wait for the results.
I just had my amnio two days ago. I should get my results by friday.
I just got the first results. No down or 13- or 18-trisonomies
I had really high hCG (>4) and low PAPP-A (<0.25), this together with my age 36 gave risk factor 1:3.
Good luck to you SnoozyWoozy!
bansku that is really good news! Big for you!
My hCG is just over 2 and my PAPP-A is 0.29, I keep thinking the Nuchal was OK so hopefully I've just got weird bloods!
At this time in 2 weeks I will have had the amnio and on the next part of the waiting. Like you say, the waiting is awful!
Glad you had good news, now you can start planning the rest of pregnancy
I've never joined a forum before, but I wanted to thank bansku for her posting and maybe give someone else some hope. I am 28 years old and this is my first pregnancy after fertility treatment (I'm 16 weeks along). I have no genetic risk factors for ds, but my 1st trimester screening bloodwork gave me a 1:7 chance of ds. The NT was normal and there was a nasal bone on ultrasound; however, my hcg was 4.23 MoM and PappA 0.19 MoM. The wackiest bloodwork my md and genetic counselor had ever seen. After searching what felt like every forum/journal article on the internet, bansku's posting was the only hope i found. I got the FISH results today....no trisomy 21,18,13 and it's a girl! I'm in shock. I know I probably still have a long road ahead since the wonky bloodwork can indicate poor outcomes, but I'm so thankful to God that we've made it this far. My husband and I would not terminate this pregnancy even if the results were not as positive. Hoping for normal final results as well in a week! Thanks again bansku.
risk for DS 1:3
Amnio at 16wks showed normal chromosomes. He is now 9mo and perfect.
I do wonder about the combined test as there are SO many stories of people with 'high risk' measurements being given the all clear following an amnio or CVS. I'm not suggesting we shouldn't have screening tests as they help a lot of people out, but I know from personal experience (a scary 20 week scan that turned out to be a false alarm) how traumatic it can be to go through further testing.
Good luck to everyone.
I had bad nuchal result, good bloods (this was 2008 so cannot remember the actual numbers). Had an amnio and son had kleinfelters which is where there are too many x chromosones. We had him, he's gorgeous, it's one of the more minor chromosome problems you can have. Is associated with some learning diffs and maturing properly in puberty and infertility.
Don't care, v glad we know as we can watch for early signs of any diffs. Told only our own parents.
Was a horribly stressful time though, esp the waiting between the nuchal tests and the amnio... they came back with a full result after the amnio v quickly.
Interesting thread. I was told I had weird bloods. I don't have blood numbers to hand, but at 36 was given 1:5 for downs. Nuchal was 2.7. Had a cvs and results clear. DS happy and healthy 15 month old.
ThePathan, I did some research at the time and asked consultant (chelsea and westminster) what my bloods could mean to placenta health and growth issues. He wasn't terribly concerned but I was given a slighty earlier growth scan at about 18 weeks. All was normal.
However, I did have a placental abruption during labour resulting in crash section. Oddly, I had one with DS1 as well, but my risk factor then was 1:3000s. Not sure that there is an correlation, but I'd be interested to see if there is any research about placental health and weird bloods.
I had v similar figures on bloods and a low nuchal risk. I also had HG in the pg and was told that could account for the high HcG. I had an amnio and all was well and DD is now early 10 mo.
Im the same, I've never joined a forum either. But had to when I read this. I'm going through the same thing too, HCG test came back 3x higher than normal, though NT and other hormones were all fine. Have my amino booked for a few weeks time, and not feeling brave about it at all. I already had one miscarrage this year, so the thought of going through that again isn't pleasent.
Hopefully all will be well.
soozywoozy - I hope everything turned out well for you.
snoozy I feel for you, just been (still in) a similar situation. 1-5 chance of Downs and others. I had to wait 2 weeks for amino and then 1 weeks for first results. The waiting is just awful, I went into a depressed state, tiered all the time and lacked motivation to do anything. We have had first lots of results (no T 13, 18 or 21) but still awaiting full results. Then scans to check for defects as a 10% there could be additional problems.
Good luck, as you have already identified the actual procedure is not that bad so really try not to stress about that.
Let us know how it goes, I found this group really helpful.
Oh also to let you know my NT was 4.3, HCG 2.something and PAPPA 0.2.
I've so got baby brain, my bloods were nothing near what I remembered! Hcg - 1.4 PAPPA 0.36.
I am a wreck- I found out this morning that I am real high risk for ds. I am 30. will be 40 before baby is due. My nt scan seemed fine 1.6-1.8 neck measurments saw the nasal bone and s/he was moving everywhere. just got a call today that my odds are greater than 1/10 to get ds. I asked what exactly it was 1/5, 1/3... but they didn't have an answer they just said when it goes below 1/10 they just use 1/10. HCG: 4.2 and papA: .4
I can't stop bawling, I can eat cause I am sick to my tummy, I'm shaking... I feel like my world has crashed down on me. Never had risks with my 3 others. Have had 2 m/c and 1 stillborn. Never did autopsy or genetic testing on him... I now wish we did.
Reading this thread has given my my only hope. I have a csv scheduled in two days.
Thanks for these reassuring stories, I really need them right now.
I am 37 and currently 27 weeks. At my 12 week scan, we got a 2.9 measurement and combined with bloods came back as a 1 in 7 risk of chromosomal problems. We chose like you to have a CVS and that thankfully came back clear. I know exactly how you feel but wanted to share my experience as it doesn't mean bad news. Statistics can be so worrying but remember the 'odds' number you are given is just a number and another way of looking at it is that there is a 90% chance that your baby will be fine. I really feel for you as it is all you think about. The CVS procedure was okay, I just shut my eyes and counted in my head till it was over, I got to 29 and it was all done. We waited 2 days for the initial results and then a further 10 days for the full results. Try and stay positive and I will be thinking of you sending you lots of positive thoughts. X
Thanks newbie6. had cvs. waiting for phone call results anytime today. I am dying inside. Praying continuously and crying. I asked them after the cvs was done if they could confirm nasal bone. The specialist looked and although baby was not cooperating he did get a couple looks and said he did not see one. He said that the orig u/s tech was probably seeing the reflection of the skin on the nose. that if one is not trained it can be missed or thought to be there when its not. I left even more crushed less hope. I am trying hard to stay positive. Please send thoughts and prayers. especially today.
Thinking of you and praying for positive results x
Thank you newbie6. I recieved a call late afternoon on Friday, the GC telling me that my baby has T21. I think half of me died. I have been functioning half alive and that half is still there only because I have other children to take care of. We have been mourning the baby we thought we were having and trying to figure out what this all means now. DH and I have been a wreck but we will get through this.
Thanks for your thoughs and prayers.... I think we still need them.
I'm so sorry that it was not the news you hoped for. Whatever you decide, I hope you get all the love and support you need. Give your children a big cuddle, they might not know what's wrong but I bet getting their cuddles will help you. Thinking of you and your family. Xxx
I am new to this board and I thought I would share my results and what happened next. I hope it helps some people with similar results to me.
I am 40, have been TTC for some time. In brief: 2 failed IVFs and 4 failed clomid cycles. Success was with a combination of Chinese Medicine, Acupuncture and a new way of eating to support my Chinese Medicine diagnoses.
My combined screening results were as follows 2 and a half weeks ago:
Risk: 1 in 33 for T21
NT: 1.28 MoM (measurement 2.1mm at 12 weeks 5 days)
PAPP-A: 1.09 MoM
HCG: 4.44 MoM
We really didn't want the invasive tests, so after much crying and desperate internet searching my husband found the new non-invasive Harmony test. It's a simple blood test and highly reliable. Our result turned out favourable for all the three Trisomy's Harmony tests for (T21, T13, T18). A huge relief and we feel very grateful.
This post is just to really say 3 things.
1. If you don't want the invasive tests, call up the Fetal Medicine Centre for a Harmony test (you won't find it advertised on their website as it has only been available for 4 weeks or so). It's only available privately and costs £400 + £150 for scan (you have to have a scan on same day). They are the best in the country and Professor Nicolaides who runs FMC is one of the top Fetal Consultants in the world. Also, just as an aside Professor Nic is seen as much lower risk for invasive tests, so that's also something to bear in mind.
2. We found the waiting for the tests results extremely traumatic. It takes 2 weeks and we went to hell and back. I shouldn't think we'll ever be the same again! I know everyone says stay off the internet, but it's very hard to. You're looking for 'someone like me' who's come off ok or for some golden nugget of insight in a medical report: we found nothing. One great thing we did find whilst googling was the www.arc-uk.org They are the Antenatal Results and Choices and offer really good unbiased counselling. They don't favour any way of thinking, so are ideal if you want someone to talk to.
3. I couldn't find any reason online why my HCG was so high. My NHS hospital has referred me to their Fetal Consultant to see whether HCG is linked to placental function, but this is just a general hunch linked to some research which I believe is not viewed as very strong, nothing to do with anything they have seen on my scans.
Hope some of this helps someone that comes onto this board or is on the board already.
As always, thoughts and sympathies to all those with difficult times ahead.
Best wishes to all.
thanks for sharing your experience. We are also in a similar situation.
my wife just had the NT scan and then the blood test.
The NT results were fine, but the HCG and papp-a results has put us in a high risk of 1:95
We are really disturbed and now waiting for the harmony test result.
NT - 1.3
HCG - 1.7
PAPP A - 0.16
Reading over the internet is scary and so I want to hear from your experience.
Nenja and countrymumkin1, I hope everything went well for you. But we will really appreciate if you can share with us.
Thanks again and I really appreciate the response.
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