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

[tedster1022]

@Johnson10 I was referred to a genetic counselling session today and it was informative to a certain extent. She said the combined screening is an average and risk is simply based on algorithms. Hence there’s further screening like the NIPT and then diagnostic test of amniocentesis. PAPP-A , like you said which I have also found o line, says anything above .5 is normal and NT to be under 3.5mm. Odds are also based on your age. may be your NT score has affected the formula and increased your risk. She said possibly my high bHCG has increased my risk.

Also the genetic counsel said that the numbers represent you and that those might be our normal numbers. There isn’t a way to tell since their screening is based on average. And they said it’s average regardless of age as I thought may be the average was based on age since the risk level is. For me they said 38, my odds are 1:150 to begin with and with bloodwork it’s 1:180. Cut off at 1:350 is not based on age 38. It’s general average.

Have you decided to do further testing like the NIpT. I will be doing the Harmony Blood test for further screening. She did say it’s not a definitive answer but since amniocentesis is recommended only after 16 weeks, a lot of women will do the NIPT during this time.

[Johnson10]

@tedster1022
Yeah I had NIPT on Monday, cost £400. I’m 32yrs. I’m just so confused as I have seen much older woman with similar bloods & NT with much lower risk scores.

[tedster1022]

@Johnson10 I believe it also depends on your ethnic background, health issue whether you smoke or not, the lab that was used for the testing as they might have different calculating softwares.

[SLeeC]

Hi everyone,
I’ve joined this group after an appointment with a genetic counsellor today. I was given a 1 in 120 chance of having a baby with Down syndrome. It was automatically a 1 in 530 chance because of my age. I’m still pretty confused at how they calculate these numbers as my bloodwork and NT measurement are not alarming.

NT measurement is 2.3mm 1.22 MoM
hCG 39.54 iu/L 1.25 MoM
Papp-a 5.45 iu/L 1.93 MoM
Pigf 12.1 of/ml 0.36 MoM
ms-afp 17.45 ug/L 1.10 MoM

They said my hCG is a little high and my papp-a is a little low.

I had an NIPT test today and am
anxiety awaiting my results.

After a silent miscarriage last year this news has been extremely hard to take in.
Although the GC assured me that this is not bad news I’ve just fallen into a category where thy offer further testing.

[Paranoidkaty]

I’m in absolute turmoil.
Had the call from the midwife: high risk of 1:47 for Down’s syndrome.

Hcg 5.0MoM
PAPP-A 0.6MoM
NT 2.1mm

Nasal bone seen and all normal on scan including blood flow through the ductus venosus.

I’m 33 so wasn’t expecting such a bad result but it’s high due to the high hcg and low PAPP-A.

I’ve had the harmony test and it’s come back low risk

[SLeeC]

I am in a similar situation. I’m also 33 and had test come back as low risk for all 3 trisomies after a 1:120 chance of Down syndrome. I am now 18 weeks and anxiously awaiting the 20 week ultrasound. My midwife told me that the results from this ultrasound will determine any abnormalities and is a much safer option than the amino.

I am also unable to shake the uneasy feeling.

I’m located in Canada and after sharing my story here I’ve heard people that were in the same situation as me and had healthy babies.

All the best to you

[Paranoidkaty]

I totally understand.
To me waiting 7 weeks (currently 13w) feels like an impossible wait how I feel right now.

I also forgot to mention; I had the harmony test at the fetal medicine centre in London and they also performed a detailed scan and recalculated the combined risk there using additional markers such as nasal bone and flow through the ductus venosus. The calculated combined risk there came out as 1:1343 so low risk? This is what is confusing me - how they can be so different with identical blood work

[Paranoidkaty]

@Johnson10 have you had your harmony test results? Your bloods were very similar to mine so I’d be interested to know

[SarahD19]

Sending you both positive thoughts xx

Also thought you might be interested to know, if you’ve ruled out amniocentesis due to miscarriage risk, that a lot of the stats cited are now outdated based on what we increasingly understand. I discussed this with my consultant. If worried and Fetal Medicine are feeling there are benefits, it may reassure you, but I totally understand if not.

At the time I had my amniocentesis, I had basically been told my baby had only a 1% chance of survival so the odds were already stacked against us.

bloomlife.com/preg-u/amniocentesis-risks-and-miscarriage/

[SarahD19]

NIPT such as Harmony CAN be reassuring if you get a positive, but in Edwards and Pataus you are statistically more likely to get false alarms than accurate high risk assessments. And you have at least a 1/5 chance of a false alarm with Downs.

It’s a question of whether the strong likelihood of a false positive through NIPT is something you can cope with should this occur - and having to wait for actual diagnostic tests over a prolonged period unnecessarily. As long as you know NIPT does not have diagnostic value and can handle the anxiety caused by its limitations that is the main thing.

[SarahD19]

• I realise that is poorly worded. The first sentence should say a positive result and clarify “low risk” through NIPT. That is reassuring.
  
  Getting “high risk” is problematic as the test is very inaccurate in that regard and has no diagnostic value.

[Johnson10]

@Paranoidkaty
Yes I had my results within 10 days, I had the new year in between this as well - so they were pretty quick.
Thankfully mine came back ok. Low risk. I’m now 22 weeks & everything on my 20 week scan was perfect. I know how difficult this worry is, but try to keep positive. Xx

[Paranoidkaty]

@tedster1022 did you get your harmony results?

[Chefwifelife]

Hi all. I’ve been scouring through Mumsnet and thankful to find this thread. I had low Papp-a with my first pregnancy and a downs risk of 1/185 so although was considered low we had a harmony and this put us at very low risk for all conditions. DS was born at 42 weeks and is fab

I’ve just had the call from the screening midwife to say my results from my 12 week scan and bloods have come back as 1/146 so classed as high risk

My NT was low on scan and not a concern
Free beta HCG Is 2.3668 MOM
Papp-a 0.3891

Papp-a is pretty much the same as it was in my last pregnancy.

I’ve opted for a CVS this Friday. We also have the added concern that this little boy has a 50/50 chance of having an inherited blood clotting disorder (hence why we know the gender from a haematology gender scan).

I guess I’m just posted to be around like minded people at this time.

For those of you still waiting for your results, good luck.

[SarahD19]

@Chefwifelife it sounds like you have been through a really rough time! Wishing you the best of luck with your results xx

[Chefwifelife]

Thank you. I’m so glad the CVS is this week and I can just get on with finding out. I know that sounds awful but I just need all the facts.

[SarahD19]

@Chiefwifelife I hope it all goes to plan and the procedure can progress. I know that was a huge anxiety for me when I had CVS.

The 3 week wait was torture, especially after initial tests suggested the worst. But thankfully the long term culture showed mosaicism in my case.

If I can support in any way, please feel free to PM me. Xx

[Chefwifelife]

@SarahD19 thank you. I’ve tried scrolling back but am a bit square eyed. Did you continue with your pregnancy?

[SarahD19]

@Chefwifelife yes I did

[Chefwifelife]

I used to work with a colleague who has a daughter with mosaicism and she’s gorgeous.

[SarahD19]

@Chefwifelife that’s good to hear. Although you are aware that mosaicism detected at CVS can be highly suggestive of placental mosaicism and CVS does not have the scope to diagnose mosaicism in the foetus? This is one of many issues which make diagnostics so complicated and greatly reduce the PPV of CVS.

It has been increasingly established over the course of the last 30 years that often placental and foetal chromosomes do not match. Hence another reason why NIPT is also severely limited. At least CVS provides longer term results.

[tedster1022]

@Paranoidkaty yes I finally did receive my harmony test recently. The first test was invalid because they said they didn’t have sufficient fetal dna in my blood. That of course was waiting after 2 weeks for the results. I went back for a redraw with fingers crossed and then had to wait another 2 weeks. It Came back as low risk. Understanding it’s not a diagnostic test, we decided to wait for the anatomy scan before deciding on whether or not to go with amniocentesis.

It was a lot of anxious waiting game for me from December up until today. After Harmony, it was genetic testing. I was confirmed to be a thalassemia carrier so we were waiting for my husband’s hemoglobin result. Luckily he is not a carrier but because I am, we then had to do further testing on our genes which took a whopping 4 weeks. Luckily he has all four genes that’s part of hemoglobin. I on The other hand have only 2 out of the 4. If he was a carrier and also had only 2 out of 4, our baby would have a 25% or 50% chance becoming a major thalassemia. Typically babies with major thalassemia won’t live long and they will need blood transfusions (I was told). I’m thankful that that my husband’s result was negative. At most the baby would be like me missing 2 genes and will live forever with cold hands, dark circles under eyes and no hardcore activities. I just wish these were all tested prior to my pregnancy through either my family doctor with prenatal check or the fertility clinic I was going to. It’s a shame they put me through this torture.

I had my anatomy scan last week and everything is normal right now. I do have to return to get scans of certain parts but they reassured me it’s quite common. Possibly due to the baby’s position.

I was also referred to an endocrinologist because my TSH was less than 0.001. The endocrinologist actually linked it back to my first trimester scan and said that I was there to see her because my BHCG was very high, it was at 9MoM. High bHCG links to low TSH. She didn’t mention anything about the PaPP though. Should resolve by itself they said.

Kind of learn things as you go. But right now I’m trying to relax and enjoy the pregnancy but of course we don’t have time to relax!!! It’s time to start planning diaper stations and etc.

Although it’s stressful, it’s happy stress at the moment. We’ve waited 7 years for our first so we are treasuring every moment.

Sending lots of love out there!!

[SarahD19]

@tedster1022 good luck with everything! My heart goes out to you. My situation has been different to yours but I have also had a very drawn out diagnostic process which has lasted over 4 months but for different reasons.

It finally looks very positive for us - our Fetal Medicine Consultant has concluded our baby is actually perfectly healthy and discharged us to local/routine care. We were having to travel out of area to meet specialists and had so many tests. I’m 7 months pregnant now and trying to enjoy what is left of the pregnancy.

Like you I have learned so much. I never knew prenatal diagnostics were so complicated before, or the limitations of all these tests. My scientific/mathematical background has been both a blessing and a curse as have read so many medical journals 🙈

Take care xxx

[Chefwifelife]

@SarahD19 I’ve read back through this thread but can’t see your story; do you mind me asking how you found out about your little ones mosaicism?
Had horrid dreams about mc last night and feel like it’s going to be a very long couple of weeks.

[SarahD19]

@Chefwifelife. My baby hasn’t been diagnosed with mosaicism as that simply isn’t possible prenatally and the evidence doesn’t tally. I’ve sent you a PM.

When mosaicism is detected at CVS, the point I’m making is it can essentially mean the condition is in the placenta but NOT baby.

Not a fan of all the pro-life rambling at the end of this article, but otherwise some interesting points are made here. This situation could have easily happened to me if I’d listened to so many people - and is alarmingly common. thefederalist.com/2019/06/11/women-aborting-babies-based-incorrect-prenatal-test-results/