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

Hi! Just thought I should come back and update. My NIPT results came back with a 1:100,000 chance. Im so glad I dont have the option to even consider amniocentesis. I was dreading that decision. NIPT still has a 1-2% chance of a false negative. From the many many research articles I have read this is based on fetal fraction, if your child has mosaic down syndrome and robertsonian translocation being common with false negatives too. Either way noone has 100% surety that their child won't have physical or mental disability and even once they are born a million other things could happen. But I have decided to accept the results and hope for the best in terms of my child's health. This week I put myself through hell. It has definitely opened up my eyes to the fact that anything can happen. Becoming a mum and being mum is a scary but amazing experience.

Hi yes the fetal fraction has to be over 4% to get an accurate result for the harmony test. I've done an extreme amount of research As I also worry so much. False negatives are extremely rare. Harmony is as close as you will get to a yes or no if your baby will have a trisomy. I've actually never heard of someone getting a negative result then going on to have a baby with a trisomy they were tested for.

I’m so glad I found this thread! I’m expecting non identical twins due in August and wondering if anyone else has any twin hCG stories or experiences to compare to since I am finding it almost impossible to find information online.

I had my 12 week scan almost two weeks ago and was given 1:150 for Downs in one twin but the other one was low risk at 1:322.

The combined screening results were:

Free beta hCG 3.15 MoM
Papp-a 0.88 MoM
NT 2mm for Twin1 given 1:322 risk
NT 2.3mm for Twin2 given 1:150 risk

Nasal bones were present for both and no other visible issues were seen on the ultrasound. The NHS told us that the high risk for downs for twin 2 was flagged up due to the NT but apparently had nothing to do with the hCG levels?

We decided to have a NIPT/Harmony test at The Fetal Medicine Centre on Harley street two days ago so now have to sit tight for 2 weeks ☹️. The doctor at the clinic said the NT wasn’t a problem but thought my bloods were the alarming part so now I am confused!?

I am almost 36 years, first pregnancy conceived via IUI on fertility drugs (Menopur) and my BMI is 28. Neither me or our known donor have anything abnormal in our family history.

Any twin pregnancies (past or current!) had high hCG too? Should I be worried? We were offered a CVS but felt more comfortable opting for noninvasive NIPT privately first.

Hiya, your NT both look absolutely fine to me for my little girls hers is 2.2mm = to 1.3mom at 13 weeks gestation. My papa-a was 1.67 Mom My hcg was three times higher at 4mom! So three times over. But hcg varies from woman to woman higher hcg might be normal for you! I also went for the Harmony test which is a simple blood test where they extract cell free DNA from your maternal blood that comes from the placenta from your baby. My risk come back very low 1/10000 they check the dna which makes it extremely accurate! It maybe the fact your papa-a is under 1 mom values and your hcg is raised, but like I say that could be normal for you and everyone is so different. If u are concerned the harmony test is such a simple blood test and so accurate? It really did put my mind at rest. It is quit costly at £400 but worth every penny in my eyes, it's the closest your get to a yes or no whether your Baby has a trisomy 18/13 or t21. Try not to worry to much I don't think your results look bad at all. Some mums on hear get a nuchal fold measurements at 4mm and end up getting low risk after a harmony test x

Sorry got ahead of my self and by passed the Nipt part of your message! I had two boys previously single pregnancy's and both times my hcg was higher and they are both perfectly healthy! The only time they will be concerned about high hcg is when your hcg is raised and you have low papa-a because that's a normal indication for Down syndrome ( but not always) let us know how your Nipt goes x

Just a little info

Hols86 - Yeah, the NIPT is as close as I will be able to get to knowing. So I am very grateful to have had the chance to do it. My mum told me she was always immediately offered the amniocentesis.
False negatives are definitely rare. But the studies in research articles are very varied in their findings as to how likely they are. Because every article I found claimed different things, I tried to focus on why a false negative would come back. I found this talk from a genetics technology conference. She explained it really clearly. You sound like you have been researching as much as me so thought you would like it.

it was really interesting.

NorthLondonTwins - From looking online I think Papp-a below 0.5 MoM, hcg above 2 and nuchal translucency above 3mm (some doctors and research says above 2.5 but more commonly research has said 3). Hols86 above explained to me that hcg alone isn't a very good marker for it and you have a twin pregnancy so it would be expected for you to have higher hcg. My results were almost the same as yours but my baby has a thicker NT 2.7mm and mine just came back 1/100,000. I hope everything is fine with your 2 little ones. Your results look good to me but im not a doctor.

Thanks for all the updates!
I found this forum very useful
I wanted to share my story to give reassurance to other mums
I am 37yrs had my 12 week scan was said everything is fine however my combined screening came as increased risk of 1 in 60
I was devastated and anxious and this group provided with all the reassurance
My result was
NT 1.4
Bhcg 3.4 mmol
Papp 0.47 mmol
Was offered NIPT under nhs had it the next day however it takes 2 weeks
My husband booked me harmony test privately the result comes in 5 days and came as low risk.
I want to reassure all the mums I know it is a anxious time but believe in god and have faith .

Hi I had the phone call yesterday to say my risk of downs syndrome to be high at 1:28. This was a big shock to me, never had any issues with my first pregnancy I don't even recall being offered the screening previously.

I'm 32 and slightly overweight which I guess increases my risk she also said they take into account things such as bleeding and I did have some spotting at the beginning and had some early scans. My NT measurement was 1.55mm which is very reassuring however my Papp A was low at 0.26 the midwife initially told me my hcg was okay but then went onto say that it was 70 when it should be 35 however them numbers don't make sense so I can only assume she has told me the wrong information or given me the wrong units!
When I went for my scan there was no concerns raised, I don't recall them mentioning whether there was or wasn't a nasal bone present, is that something they would have to disclose? She just said everything looked how it should and that they had a lovely symmetrical brain! I have not been referred to fetal medicine but was told I have three options 1. Do nothing 2. Pay £350-500 for the private blood test and 3. Amniocentesis - I think I have ruled this out as regardless of whether they do have down syndrome we would continue with the pregnancy.

I have found this thread so helpful already with lots of positivity coming out of it so thank you I am just so so anxious and have been since the beginning. I was never like this with my first so I am struggling to deal with my anxiety

I just wanted to say thank you to everyone who has shared their story on this thread, I've found it really reassuring.
I'm 36 years old expecting my first baby. We had a scan last week at 13+1. Our NT was 2.5 which the midwife didn't seem concerned about, I can't remember them mentioning anything about the nasal bone though. We got a call yesterday to say we have a 1 in 10 risk for Downs Syndrome, went straight into hospital to get another blood test for the NIPT and we should get our results early next week. I can't remember exact numbers as my head was all over the place, but my HCG was considered high and PAPP-A was low. I think I'm going to call today to get a note of the actual numbers.
Its such a worrying time but seeing some of your posts and the info you have all shared has helped put things into context and calmed me down a bit, so thank you.

Hi all, thank you very much for sharing your stories, I have been through every post during last week, it made feel relieved as most of the ladies got a low risk after a NIPT, but at the same time I was restless as my HCG was 8 times higher than what it should be and none of you ladies had it as high as mine.
I just want to share my experience with you. I had my screening test on the 1st of March, 2 days later I've received a call from the screening results Midwife telling me that my risk for T13 and T18 was 1in 100000 but for T21 it was 1in 16. I felt that my world has come to an end as I wasn't expecting anything like that . This is my 3th pregnancy and I had 2 healthy children before and my risk has been always very very low. But This time it was because of my extremely high bHCG. This was my results:
The dating scan found that I was much ahead than expected 14+1
CRL 83.6
NT 3.1mm MoM 1.59
bHCG 185.0 IU/L MoM 8.69
PAPP-A 7684 mIU/L MoM 1.47
Plus my age 35 years old
RISK 1 in 16
I went the next day to the hospital to meet the Midwife and discuss the options they will give me.
I had to choose between CVS and NIPT. As CVS has 1% of miscarriage and I didn't have the courage to go for it so I chose the NIPT instead. It was the longest week of my life.

Yesterday I've received a call from the same Midwife telling me that my risk went from 1 in 16 all the way down to 1 in 10000. I can't tell you how relieved I felt, I couldn't believe as my HCG was extremely high, 8 times what it should be!!! I've asked her if I still need to consider Amnio to be 100% sure, she said "I don't really think that you should put your pregnancy at risk, you will kick yourself if something happens to your healthy baby" and I was convinced 😉. Plus if I had 1 in 10000 risk from the NHS screening, I wouldn't even think about taking further tests, and NIPT is muuuuuch accurate than the first screening. I didn't even know the CVS or NIPT or Amnio existed befor last week. 😅

I hope my experience can give relief to other ladies who have the same screening as mine and are waiting for results.
I wish you all ladies good luck from the bottom of my heart, it's not easy to be a mum. Xx

@Mummy825 thank you for sharing that and congratulations! I'm the same as you, reading all the threads and comments. We're still waiting for our NIPT results and it's such a worry. Our NT was 2.5mm, pappa was 0.67 and hcg 5.49. I'm 36 which bumps my risk up a bit. It's reassuring to hear stories like yours.

@nextweek I would tell you not to worry at all, and trust me you will hear good news, your NT is normal PAPP-A as well because under 0.5 is considered low and yours is above and for the HCG it is high but not ad much as mine 😅 so from my experience I can be very positive about your results. Please let us know when you receive them. Xx

Congratulations and thank you for sharing I am still waiting my nipt results can't help but thinking it's going to be me who falls into that small percentage but trying to stay positive 🤞🏻🤞🏻

@Neuronurse27 please stay positive.
Look, you NT is normal and you HCG as well, because if it was 70 instead of 35 it means it's just 2 times higher so I think your MoM should be 2.0 which is not bad, it's only your papp-a that is low and made your risk go higher.
I think you will have good news, just pray to God and keep hope and please remove those bad thoughts from your head because they will not help you during your waiting time.
My heart is with you, good luck xx

@Neuronurse27 one more thing, check "weenee" post on the 21/01/2021, she has exactly same results as you and her NIPT came back low risk 😉

Thanks for all your replies to my earlier post. We had a harmony test done at the Fetal me since centre on Harley street and it came back low risk 1 in 10000. Worth every penny!

*Fetal medicine centre

We also found out we were having twin girls which could also explain my really high HCG levels. Before my 12 week scan I had been in bed with extreme morning sickness for 2 months which I have also heard might effect the hcg levels?

Hey im happy for you all for receiving your news. It feels like everything is going in slow motion. It was the longest week of my life. Mummy825! I noticed you mentioned you were ahead in your pregnancy at 14+1. What date did you think you were at the time? I had something similar happen to me. I was over a week ahead based on CRL and I know this wasn't possible. But I found quite a few research studies saying women with a female fetus and high hcg were associated with increased fetal growth in the first trimester. Since I read that, I have been convinced I'm having a baby girl. Did you have the BPD measurement too? Was it a bit larger than expected? Sorry to probe. You obviously don't have to answer that. Im just curious so I can compare to my situation.

@quesera88 I thought I was 13+3 and end up 14+1 at the scan, 5 days ahead which I thought was too much, I didn't have the BPD measurements, it was just CRL and NT even though I was over 14 weeks.
I don't mind answering any question 😉 feel free to ask xx

@NorthLondonTwins Congratulations, I am really happy for you xx

@Mummy825 Hi, just wanted to let you know that we got our NIPT results back and they're low risk for Downs Syndrome. Such a relief to finally know. The nurse said there was no others concerns so hopefully I can get back to enjoying my pregnancy now!

@Mummy825 that is amazing so happy for you I have just recieved mine too and all low risk. Big weight lifted now ☺️☺️☺️

@nextweek and @Neuronurse27 wonderful news! Hope you both can enjoy the rest of your pregnancies now 🥰