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

(43 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

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 !

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!

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

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

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!!!!

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.

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 ;)

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.

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

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

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.

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!

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.

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.

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 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 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

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.

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 !!

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.

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.

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

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 Fri 26-Oct-12 20:16:28

Thinking of you and praying for positive results 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 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

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