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High risk screening - Normal NT but high hCG, Low PAPP-A

(74 Posts)
SoozyWoozy Sun 15-Jan-12 21:06:59

Hello everyone,
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.

Suzy

SleepyFergus Mon 16-Jan-12 07:09:16

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!

mummytoh1 Tue 17-Jan-12 15:25:45

Hi
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).

Claire x

ThePathanKhansWitch Tue 17-Jan-12 15:32:51

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?

SoozyWoozy Wed 18-Jan-12 14:23:43

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

Suzy x

bansku Wed 18-Jan-12 14:39:58

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.

bansku Wed 18-Jan-12 16:56:47

I just got the first results. No down or 13- or 18-trisonomies smile
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!

SoozyWoozy Thu 19-Jan-12 11:07:43

bansku that is really good news! Big smile 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 smile
Suzy x

Nenja Tue 21-Feb-12 21:09:44

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.

LadyBeckenham Wed 22-Feb-12 11:41:26

Mine were:
HCG 3
PAP-A 0.6
NT 4.6mm
age 32
risk for DS 1:3
Amnio at 16wks showed normal chromosomes. He is now 9mo and perfect.

loveisagirlnameddaisy Thu 23-Feb-12 14:32:55

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. smile

ellee Mon 27-Feb-12 13:30:30

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.

JFly Tue 06-Mar-12 20:33:48

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.

pipoca Tue 06-Mar-12 21:06:18

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.

Kimmilou Mon 21-May-12 22:56:43

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.

HelloBear Tue 22-May-12 21:03:11

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.

HelloBear Wed 23-May-12 11:12:04

I've so got baby brain, my bloods were nothing near what I remembered! Hcg - 1.4 PAPPA 0.36.

krazymom Mon 22-Oct-12 23:49:40

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.

newbie6 Tue 23-Oct-12 22:19:05

Hi krazymom,

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

krazymom Fri 26-Oct-12 17:06:06

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.

newbie6 Fri 26-Oct-12 20:16:28

Thinking of you and praying for positive results x

krazymom Sun 28-Oct-12 23:00:49

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.

newbie6 Sun 28-Oct-12 23:14:34

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

countrymumkin1 Mon 26-Nov-12 18:47:02

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.

vdavid Sun 19-Jan-14 19:33:58

hello 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.

tanuka123 Fri 02-May-14 06:07:08

Hi,
Just wanted to give home. 10 days back I went for the combined screening. My NT was 2.7 mm at 13 weeks, my Paap a was 0.39 Mom and my hcg was 0.79 mom. My risk came back at 1:46 for trisomy 18. I am 32 and this will be my 2nd baby. 1st one is almost 4. I was recommended to have either harmony or amino. I went for harmony blood test since that is non invasive. These past 10 days have been hell for us. Anyways today got a call saying all is clear and the harmony test did not find any abnormalities. Hang in tight !!

ncandrews Sat 14-Jun-14 19:42:26

I am 41 will be 42 if I carry my baby to term. I have a 6 year old and 5 years of infertility due to a high FSH. Needless to say this pregnancy was a surprise.

I am 13 weeks and just got my 1st trimester screen back.
pappa: 0.38
hcg: 1.34
Nt:2.2mm

1:4 chance of T21.

I have decided to do the CVS to get a definitive answer.

Does anyone know of someone with such bad odds and it has turn out to be all ok?

I am gutted and can't sleep. Just crushed and can't take the waiting.

EliMar11 Fri 18-Jul-14 13:24:14

Hi ncandrews

My friend had a 1:4 chance, was IVF, didn't have any further testing. She was 40 at the time and it was her first child so had decided to keep if regardless.

Her baby is 100% normal... Actually she's extremely switched on, advanced even.

I'm currently pregnant, 36 years old. NT 1.9mm (1.29 MoM), free beta hCG 1.35 MoM & PAPP-A 0.25 MoM

Been given 1:15 chance for T21

I've recently sent off bloods for the Harmony Prenatal test and am still waiting on results.

What I keep reminding myself is that 1:15 converts to 93% that my baby is fine with a 7% risk of a disorder.

The other thing I think of is the beautiful children and adults I know with Down's Syndrome.

My biggest concern is my husband disagrees with my opinion of keeping our baby regardless and I'm concerned the stress that will be put on our marriage if there is a disorder and I keep our darling and that my husband may resent me...

Not fun times but I'm remaining mostly positive.

1:4 = 75% chance that all is normal!

Hope you are sleeping better and my thoughts are with you.

Eli

TheRedBaron Mon 21-Jul-14 08:23:46

I am 36 and 14 weeks pregnant. I've currently been given 1:4 chance of trisomy 13 or 18, based on normal NT scan, but hCG and PAPP-A were both at 0.1 MoM. I'm having a CVS on Thursday. The scan also picked up reverse flow in the ductus venosus (I think a valve of the heart?). It all sounds very negative....if the CVS comes back clear then we're left with the possibility of placenta or growth or cardiac issues. I'd be very interested to hear from others in similar circumstances, and what the outcome was, good or bad. Thanks. Xx

EliMar11 Sat 26-Jul-14 06:34:15

Hi RedBaron

Sounds pretty stressful. How did your CVS go?? I hope you has some good news. I haven't had any friends with those findings... Hoping you are ok!

Eli

TheRedBaron Sat 26-Jul-14 10:54:50

Hi Eli. The CVS went well in terms of them getting what they needed. I'm a bit sore but it's ok. I'll know the outcome Tuesday. The Dr was pretty positive that 1:4 means still a 75% chance of nothing, and that you can have low bloods and still be normal. I guess my worry is that if the CVS does come back clear there's still a question mark over what's going on and why the bloods are so low and if there's a heart issue. Or, asking myself whether there's a chromosone issue not related to the three main ones. I'll be going to every scan (they've suggested monthly scanning) expecting them to find something bad. At the moment I'm hoping for the best, but preparing for the worst.

Hobbes8 Sat 26-Jul-14 11:14:37

Hi RedBaron,

Best of luck with the results. I had a similar situation in my first pregnancy although my numbers weren't quite so low - 0.38 Papp-a and a 1:130 risk of DS.

We went for the CVS which came back negative but they recommended additional growth scans at 28, 32 and 36 weeks. The first two were fine so we were quite blasé about the 36 week scan, but they were worried about the baby's growth, which had slowed and become asymmetrical, ie the foetus was preserving its head, but the abdominal and femur growth was slowing down.

I was monitored for a couple of days and then they decided to induce me at 36+2. My son had a low birthweight - 4lb 11oz - and was hypoglycaemic and jaundiced, so he was in SCBU for a week on a glucose drip, and had a spell under a UV lamp.

He's 3 now and absolutely fine - he had no health problems after coming home from hospital. I was offered extra scans in my next pregnancy, despite my bloods coming back fine, but had no problems and a normal full term delivery,

I'll keep my fingers crossed for you.

EliMar11 Thu 31-Jul-14 03:44:14

Tuesday has passed, fingers crossed you had a result you wanted to hear!

Nice to hear the doctor being sensible and making the results sound more realistic 75% all ok just sounds so much better!!

I just received the results from the Harmony test which was all good, low risk smile

One good thing for you is regular scans, I love them!

Will be thinking of you!

TheRedBaron Thu 31-Jul-14 08:07:51

Eli, that's fantastic that your results came back low risk. Unfortunately my results were mixed: they found trisomy 18 in some placental cells but not all, and they can't say whether the baby has it or not. It could have grown from the trisomy 18 cells or the good cells. So we now need to wait another week for the full karyotype results (which can isolate the baby's chromosomes), and we've got an appointment on Friday to discuss what next and what this means. I've been trying to do some research but it's all so complicated. I think if the baby's ok but the placenta isn't then there's still a risk as the placenta won't be functioning properly. Hopefully we can ask all these questions tomorrow.

ladygaga01 Mon 04-Aug-14 12:10:10

Dear All,

Very interesting thread indeed! I am currently nearly 21 weeks and had a similar experience at the first trimester scan (visually everything was ok, but my hCG and Papp-A levels so weird that the risk of a trisomy 13/18 came out very high!).

I did what countrymumkin1 suggested and went for the Harmony test. Luckily we got the all clear.

Now I have the following question: what else do hCG and PAPP-A levels stand for? Can someone explain what they actually indicate and which other reasons there might be for them being "weird" or ambivalent, when the baby is actually ok?

Should I be worried about the placenta?

Thanks

SaggyAndLucy Mon 04-Aug-14 20:37:28

I had odds of 1 in 5 and I had a good outcome.
I have the most AMAZING daughter of 5 months, who has Downs Syndrome. She is beautiful, funny, clever, chilled, laid back and easy to look after. she is BETTER than 'normal' babies. I've had 2 of those. wink
she is a superhero and has done more for family unity than anyone else in my family in years.
I'm sure I sound preachy, and I apologise, but I just wanted to say that a 'bad' outcome can actually be a wonderful thing. smile

Stardustshaper Tue 05-Aug-14 19:35:30

Ladygaga - just a snippet of information based on my recent experiences. High HCG levels are often indicative of a multiple pregnancy but where one of the twins didn't progress and gets re absorbed into the mother's body.

Having a "vanishing twin" is incredibly common and most ladies are completely unaware that they even had one as all traces of it can be re absorbed by the 12 week scan which is often the first scan.

TelephoneTree Sun 10-Aug-14 22:32:17

We had a 1 in 5 risk (3rd child) and he has DS and is absolutely fine - slightly quirky but fun and completely no bother! Ask me anything you like and I'll try and be objective ;)

yorkcat Sat 18-Oct-14 20:32:48

NHS combined has given me a risk of 1in 7.

Nuchal measurement was good at 1.3 so when the mw rang last thursday it was such a shock.

My papp a was very low and I think hcg was off too, can't remember what she said as was struggling to take it all in and haven't got my letter yet.

We had already decided to opt for nipt if my nt screen came back high, now wish we had just gone for this straight away as I know a two week wait is going to be hell...

I should have expected it as am 40 years old.

This is my second pregnancy but first baby as last one ended in mc at around 7 weeks.

Am 13w3d today and have an appointment for a private detailed us scan as part of the nipt NIFTY tomorrow (Sunday). I found out about arc charity and tried to contact them for advice (and reassurance??) today but the helpline is not manned at weekends.

Praying that the odds are in my favour and that my scan results will be reassuring enough to provide some hope to make the 2 week wait less horrendous.

I have googled massively for much of the past 48 hours and found the relevant threads on mumsnet very supportive and informative and its given me some hope to hear others positive stories but I note that there's not many ladies with risks as high as 1:7 so I can't help but wonder if the nipt results will only confirm a baby with ds. I can't imagine having to go through invasive testing right now as I'm too anxious.

I don't believe that I could terminate my baby but the thought of coping in the future is such a worry am trying not to get a head of myself but am in huge turmoil.

AnastasiaX Thu 23-Oct-14 18:02:11

Hi everybody

I am new on mumsnet!!!

Last week 12+2 I had an ultrasound for chromosomic problems. My NT reading was high (2.6 mm), but the baby looked good overall (great heart beat, regular size, normal brain / head, and had a normal nasal bone.

I was told my chances of having any problems where slim (0.17%).

I was drawn blood to have it sent out for analysis. I got the Harmony test and am still waiting for results. Needless to say, I am extremely nervous and anxious. I am 29 and this is my first pregnancy.

Anyone have any similar experiences?

Thanks!!!!

Mslad Tue 11-Nov-14 20:42:47

Anastasia I'm waiting for results at the moment. How did you get on?

LondonMomAG Mon 01-Dec-14 16:24:24

Hi everybody,
Thanks for sharing your experiences!

I went through a similar experience recently. I am 16 weeks and when I had my 12 week scan and blood test, they came back with 1:133 risk for Trisomy 21 because I have slightly high HCG and Low PAAP-A. NT was fine. The miscarraige risk for CVS and Amnio is higher than the margin of error for the blood test so I didn't really want to go through with it. I did the Harmony NIPT test instead. The wait for the results were agonising - it takes 2 weeks because the lab is in US but I just got the results back and the baby low risk 1/10000 for Trisomy 13, 18 and 21. The results have 99% accuracy so it was a big relief. My midwife has scheduled a 30 week extra scan to monitor the growth of the baby so happy about that too. All the best to everyone who is waiting for their results!

Lipsylisa Sun 07-Dec-14 21:01:29

Hi, just wanted to say I had nt 2.4mm and hcg 3.6mom papp 0.46mom and as I'm 38 and 13 + 4 weeks
I was pulled into room to tell me I had 1 in 9 (very high risk) chance of baby having Down's syndrome. so we turned down amino and done a harmony test (hospital said they take results as if they were done by amino as they are that reliable.) results were very low risk smile I cried when I hot results. I decided not to find out sex so they wipe out the gender results on test results (very hard lol)
I have refused any tests as it's an unnecessary risk. Wish I never had agreed to them. The harmony test was worth the £500 now I can have a good christmas and not worry !

jenny88 Mon 12-Jan-15 02:01:02

Hi, I just got my NT test results back with a risk of 1 in 450 for DS. I just turned 27 and my average risk for my age is around 1 in 700. The results are obviously not what I had hoped for. I spoke with my Dr and she told me that my blood test results are what increased my risk. My HCg levels were 11!! I think my PAPP levels were not abnormal (can't remember the number). I've been trying to find any information online about levels that high but so far the highest I've seen are around 6? My Dr has ordered an urgent Amnio to be done this week.. I'm a little freaked out. She couldn't give me any answers sad

Mslad Mon 12-Jan-15 14:56:11

Hi Jenny, Hope you're ok. I don't really have any answers about the actual hcg and papp-a levels, but didn't want to read and run. I had a normal scan, nt measurement only 1.3, but due to my blood levels I was given a 1 in 157 chance of DS. Harmony test proved all is clear, and I had my 21 week scan last week and baby is developing as normal. the blood test results are at the back of my mind, but I just wanted to say that 1 in 450 isn't a high risk result. I'm not great with stats, but my 1 in 157 translated as something like 0.1% chance of ds- which is really really low when you think about it. Plus I think if your scan was good, it's a good indicator that things are progressing well.

As difficult as it is, I would try not to worry too much, I think the more medical science progresses, they can pick up any teeny tiny minor discrepency that can cause us to worry. If you don't want an amnio, you could look into the harmony test- it is expensive and takes 2 weeks for the results, but it's non invasive.

Kaz1904 Mon 09-Mar-15 21:30:36

Hi all,

Well it's been two weeks since I was given the news that I had a 1:36 risk of Down syndrome. This is my first pregnancy. My results were as follows:

Free beta hcg 4.01 mom
Papp-a 0.53 mom
NT 1.9 mm

I'm 35 years old. Have been for harmony test and just waiting on results. This has been the hardest time of my life. Doing anything is a struggle right now. My mind is just occupied with this. It's been 11 days since I had test done so will hopefully have results soon.

I just pray everything is ok with my baby ��

Kaz1904 Tue 10-Mar-15 20:18:10

Got my Harmony results today and the baby is all clear! Would def recommend this test as non invasive so no risk to the baby. These past few weeks have been a living nightmare, I am just so relieved! Oh and we found out we are having a wee girl...just delighted!

Mslad Wed 11-Mar-15 17:56:13

HI Kaz Sorry I didn't reply to you sooner when you were still in waiting hell, but huge congratulations for your good news. It's the best feeling isn't it? I had very similar test results to you. now 30 weeks with a little girl too smile best of luck with the rest of your pregnancy smile

Kaz1904 Fri 13-Mar-15 20:00:06

Thank you so much! Forums like this are what kept me positive during that time! So pleased things going well for you...not long for you now! Good luck! smile

Oakley2016 Fri 29-Apr-16 09:22:40

Hello everyone. Thank you all for sharing your stories. It has given me hope. I received results for NT yesterday. It came back 1:8. Scan was great 1.9mm and nasal bone was there. But my bloods were out. HCG 2.77 and PPAP 1.9. I had a harmony scan today. So it's just the waiting now. A few people at work know I'm pregnant. It was hard to hide with terrible morning sickness and I'm not looking forward to being asked how everything is going.

Estilou Sun 24-Jul-16 21:27:35

I had a normal scan and NT. Then at 13/14 weeks bloods came back as 1/10 risk. I was 37 years old. I had high hcg and low pappa a at .4. I was v worried. Had the harmony test and everything came back fine. It was the worst 2 weeks of my life waiting for the results though. Think that is something you can only truly appreciate if you have been through it yourself.
I did have to have growth scans and baby had stopped growing at 39 weeks. He was born at 5lb14 smaller than his big sister and placenta they said was not in good condition when it came out. He is 7 months now and is still small but is a healthy little boy.
Hope this gives some people hope. I looked at every post going during my 2 week wait.

SamMac2016 Mon 22-Aug-16 15:59:18

Hi everyone

Your posts have all offered me some hope and reassurance.

The midwife called today with a high risk result from the screening test. The nuchal fluid was normal but HCG levels high and PaPP low. We have opted for Harmony test tomorrow as have suffered 7 miscarriages. I am 37 years old.

I am also being treated at a private clinic in London for recurrent miscarriage, have high NK cells and been on Prednisolone for 1st trimester, at my last scan (12 weeks) I opted for them to do a harmony test and paid £450 for it. The result was inconclusive and I have to do a redraw due to quality control. Has anyone been high risk and had to do a redraw with the harmony test?

Trying to think positively, 15 weeks is the furthest I have ever got in pregnancy and this is a real blow.

Justmaybe1 Fri 13-Jan-17 04:53:18

Hi @jenny88,
Just wondering if you can update on your amino results if you don't mind sharing?
You're the only other person I've seen online that has also had such high b-hCG levels as me ( mine is 9.3 and Papp a is low at 0.51). I'm currently waiting on the blood results of the Harmony test as I've been put at 1:80 chance of DS, the NT measurement was all normal.
This is a horrible time to wait, but the worst is that after my supposed 'normal' scan I started telling everyone about the pregnancy. My two other children as so excited and keep wanting to talk about the baby, but until I get the results I just want to curl into a ball!!!

Kikide Wed 15-Mar-17 07:47:33

I got told last wk I was high risk downs 1 in 5 chance my by was normal but my bloods was not hcg of 2.6 and papa 0.29 I'm so worried and cried so much. We decide we would have the serenity test as I was not willing to risk my baby with an amnio I'm currently waiting for my news praying and hoping all is fine but understand it might not be it's causing a lot of upset for me and my hubby as he did not won't me to have NHS blood test to start I feel so guilty I just hope all is well but will be keeping either way wil be loved just the same but I am worried as already have an autistic son who needs lots of care . Plz cross ur fingers for me x

Justmaybe1 Wed 15-Mar-17 09:47:47

Hi Kikide,
I know this is a horrible time to wait, I had my results back and was shown to have a very low risk of Downs Syndrome. I think either way at least having the test you can prepare and research any extra needs or possible complications that might occur from having a Down's syndrome baby. If your NT measurement was within normal range then that can be a very good sign, I will keep my fingers crossed for you xx

Kikide Wed 15-Mar-17 16:59:02

Thank u so much gives me hope x

Kikide Wed 22-Mar-17 13:33:23

Got my results this morning thankfully everything was clear so very releeved been hard couple of wks we found out we're having a little girl also so happy I can now relax

Justmaybe1 Wed 22-Mar-17 17:45:43

That's fantastic news smile it's the worst wait in the world, but you can relax now and enjoy the rest of your pregnancy x

unhindered Sun 09-Apr-17 01:42:12

Just posting incase anyone else comes across this problem!

We were given high risk for Down syndrome after our 12 wk nhs testing at 1:62 based on my age (30) and high level of hcg (3.23) + low level of pappa (0.34) nuchal wasn't a concern (1.4mm)

As many of you did I opted for the harmony test as it was non invasive, could totally relate to the waiting and feeling anxious! Unfortunately we had to have a redraw of blood and even another, none of which they could test due to the low levels of babies DNA in my blood, to do the testing they need at least 4%.

This is likely to be due to my 'increased bmi' as they so politely put it! If you are over 100kg which I am, there is a chance of this happening. Harmony recommend waiting 2 weeks between blood tests for there to be a chance of an increase in the percentage, however the company I did the harmony test through didn't pass on this info and I ended up having the three blood tests within a week and a half!

Anyway I got a refund, I'm now 16 weeks and my husband who was unsure about continuing if baby had downs has now said what will be will be, so we are just going to see what happens! Neither of us like the sound of the amino or the risk involved so that's out of the question. Now I know I'm not waiting for results I'm sort of at peace which feels a bit strange after the anxious few weeks we've had! We find out the gender tomorrow so I'm very excited and can't sleep!

Incase anyone else goes down this route or just doesn't have any further testing, my 20 wk scan is being rebooked with a dr rather than a standard sonographer so they can have a more thorough look at that stage.

I hope this might be helpful for someone!

Jcaow Fri 28-Apr-17 14:08:46

This thread is really helpful.

I'm also in the dreaded 2ww for harmony test results after a normal 12 week scan but high hcg of 3.2 and v low Papp A of 0.13 giving me 1:54 chance of T21 and 1:20 of T13/18 according to the NHS but much higher chance of T21 according to the online calculator at the Fetal Medicine Foundation. I'm sure there are complicating factors in that I had IVF and pre eclampsia and my DD was growth restricted in my first pregnancy but blimey this waiting and not knowing is really hard work.

Jcaow Fri 05-May-17 17:13:44

Just got my harmony results back <1 in 10,000 risk of all 3 trisomies. Phew!

Lilylollylola Tue 03-Oct-17 21:02:34

Had my 12 week scan on Monday. Nuchal at 2 and all else "normal" then I had bloods, received the utterly heartbreaking call today to say my bloods came back high risk. 1:67. I'm 38. And terrified. Cannot stop crying. Booked a private NIPT blood test tomorrow morning.. I don't like the risk of amino, though maybe if NIPT comes back high, I will ... I'm so scared and my head is all over the place.

Tammy1984 Wed 04-Oct-17 17:53:16

Hi, I'm new here and just looking for some reassurance really! My baby girl was stillborn at 36 weeks in October 2016, after tests were done we discovered it was because my placenta wasn't functioning properly because of the Low papp A I had, I'm now 14 weeks pregnant and have just found out I have low papp A again and this has sent me into an absolute frenzy of worry and panic, had anyone else had this and had a happy ending?

Lilylollylola Fri 06-Oct-17 12:35:04

I have been given 1:64 t21 and 1:670 t13/18.

X

unhindered Tue 12-Dec-17 11:40:41

I had a low level of Papp a and my daughter was born in October, we were high risk for downs due to it and higher levels of hcg but thankfully she isn't smile

Lilylollylola Tue 12-Dec-17 16:46:14

Hello soozy. I was in exactly the same position .. but I opted for the private safe blood test as there is no risk to baby. I think I paid about £400. Had a 5 day wait for results which came back low risk. I am 22 weeks now, and Everything looks on track ... but I guess you never really stop worrying till little one is born. Try and stay positive.. very hard I know. But not all trusts scan Papp-a so, I'm
My mind in an uneccecary extra element of worry.. xx

Ashtangimum Mon 02-Jul-18 20:19:54

Hi, I’ve just found out my results today and I’m high risk with a 1in 6 chance. This is my first pregnancy and I am scared and worried and I don’t know what to do. I’m feeling completely beside myself

soontobe6 Mon 02-Jul-18 20:53:44

I am assuming your 1in 6 chance is of Down's Syndrome? I've been in your position and my heart goes out for you at this time of worry.
Your midwife should of outlined possible next steps such as an amino or the Nipt test? Finding out for definite could be helpful.

After much soul searching we decided not to undertake any further testing as we just wanted our baby.
He does have Down Syndrome. He is an absolute joy and whilst he is a little slower to reach his milestones , he is healthy and happy and we do not regret our choice.
I have great compassion for couples that choose a different path.
Please feel free to pm if I can help in anyway.

Ashtangimum Mon 02-Jul-18 21:37:57

Thank you so much - the midwife wants to see me to discuss further options. However, I’m not sure whether I’m better off knowing or not knowing. Will I end up worrying either way? Can I stay in an ignorant bubble and enjoy my pregnancy and not worry until the end or do I find out be prepared and hope for the best. I don’t know what is going to make it manageable. For the first I really feel like I don’t know which to turn

Gilbert82 Wed 04-Jul-18 18:38:57

We decided not have have the combined test at 12 weeks, our scans were both fine and everything looked as expected. We then had a postnatal diagnosis of Down syndrome. Our little one is amazing, no other medical conditions, hitting milestones (a little later than other similar aged babies) and is the best thing to have happened to our family!
We chose not to test as I would have ruined my pregnancy worrying. Any serious medical conditions would most likely show up on your 20 week scan, we were told if anything showed up to make the sonographer suspect DS or anything else they would have to tell us even though we hadn’t screened. Feel free to send me a message if there’s anything I can help with x

Whitney12 Fri 21-Sep-18 22:57:08

Hey I’m also new but reading al these comments help a lot i have just been given a 1in 15 for downs on my baby I’m 16 weeks and have denied the invasive test there is a part of me that wants to no as I want to be prepared I’m only 24 so I automatically said to myself I never saw this coming but I denied further testing not cos I didn’t want to no but because weather my baby has downs or not I wouldn’t love it any differently but I need to talk as it’s still all I think about x

Topu1981 Tue 07-May-19 20:12:18

Hi , My wife is 39 years old. We have two boys 10 and 5.6 years old. My second boy 5.6 is down syndrome..my wife now 13 weak pregnant. She did her nt scan and it wad found normal (0.77mm).nasal bone was present. But blood test found 1:184 risk. High hcg (9.1) and low pappa(1.3) at 11.3 weaks pregnancy. We are very worried. What should we do now..please mention...

Sorter Wed 15-May-19 03:51:52

Hi, thanks for sharing your stories.

Our GP adviced us to go for NIPT first so we had NIPT in 11th week. It came all low risk. Then after getting these results, we went for Nuchal Translucency (NT) and blood screening test (13-14wks). NT came fine 2.5 mm, nasal bone present but free BhCG - 0.30 and PAPP-A - 0.27 MoM. We are put into high risk for Trisomy 18. Not sure why, when NIPT came out all fine.

We will be meeting doc tomorrow.

SamP527 Wed 18-Sep-19 21:23:36

I had “the call” from the hospital this week with a 1/45 chance of T21. I sobbed. Then went straight on the ARC website and got some more information about the extra testing. We had the Harmony test this morning and now just waiting. Apparently the NT measurement is normal and it’s something in the blood work. I don’t understand what any of the numbers mean and I can’t seem to find any way of interpreting them just to see where the risk came from. I know it’s information overload but I don’t think you can help yourself when searching for answers. Hopefully our results come back clear but we are where we are. Happy thoughts to everyone else waiting on results

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