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

[SoozyWoozy]

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

[ncandrews]

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]

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

[user301204]

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]

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

[user301204]

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]

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]

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 :)

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

Will be thinking of you!

[user301204]

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]

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]

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.
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.

[Stardustshaper]

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]

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]

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]

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]

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

[LondonMomAG]

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]

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 :) 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]

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 :(

[Mslad]

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]

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]

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]

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 :) best of luck with the rest of your pregnancy

[Kaz1904]

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!

[Oakley2016]

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]

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.