Low PAPP-A and diagnosis of TOF at 20 weeks

[mardim]

Hi all, I hope you are well.

I was diagnosed with low PAPP-A during my 12 week scan (0.40) and was advised to take 150 mg aspirin daily. I was given a leaflet about low PAPP-A and that was it. I had my combined test and it all came clear. During my 20 week scan, they found possible TOF, waiting for a specialist scan. Has any of you had low PAPP-A before getting a diagnosis of TOF for your child? I feel that my midwives and hospital are not helping me at all. I have to google everything! When I mentioned TOF to my midwife, she said let me google it... Thank you for reading my message

Hi,

I’m in the same boat!

I am on aspirin for low PAPP-A after my blood results from the 12 week scan. I also had a very high NT measurement which meant I had to have a few tests and an early anatomy scan at 16 weeks at a Fetal Medicine Unit where they diagnosed my baby with Tetralogy of Fallot.

Are you seeing any specialists/consultants at all? Midwives don’t really deal with these heart conditions so you should be referred to a consultant or something I think?

My next appointment is my 20 week scan and then I’m seeing a consultant for an extra growth scan at 24 weeks - are you having the same do you know?

My sister is a midwife and said that low Papp-a is much more common than you think and she said I didn’t need to worry about it which made me feel a bit better. I’m not sure if they’re linked or not though, I forgot to ask the cardiologist at my appointment.

Sorry you’re also going through all this stress 💕

Hi Dcw20 thank you for your reply.

I am having a specialist scan this week to check my baby’s heart. I read that TOF can be linked with Down syndrome and other learning disability syndromes but when I had my combined test everything came out clear and my chances of Down were 1 in 290. I feel a bit anxious at the moment but the specialists will hopefully shed light to most of my questions. I have extra growth scans for 28 and 32 weeks but waiting for further guidance/advice from the specialist fetal unit.

@mardim that’s good that you have a specialist appointment soon - hopefully they will give you more information and reassure you a bit.

It can be linked to some chromosomal conditions so they might offer you a NIPT test or an Amniocentisis?

I had a CVS after my 12 week scan which came back all clear for any chromosomal disorders luckily - so TOF can just happen on its own.

I hope it goes well next week, keep me updated!

Hi all, just to clarify it’s tetralogy of fallot, not tracheoesophageal fistula. Thank you

@Dcw20 thank you for your wishes x

@Dcw20 May I please ask you how old are you and if this is your first pregnancy? I am 35 and this is my first pregnancy x

@mardim I’m 29 and it’s also my first pregnancy - it’s definitely been a difficult first experience!

Hi
Just name changed, long term poster. I thought I would pop on to tell you my dh has ToF - operated on aged 5, I think they probably do it younger now. He has an annual scan and checkup. He will be 50 this year and lives a normal life, has recently given up 10k runs because of a knee injury, has kids and a full time job etc. I won't lie, I think it was hard for his mum and dad before he had the op as he was skinny and would get breathless easily, but once repaired he has been very healthy. He's almost never ill.

I just wanted to reassure that for my dh at least, ToF has not blighted his life since he was 5 in any way.

Incidentally my dh has no other conditions - masters level education, good professional job. No learning issues.

@mardim @Dcw20
I had low PAPP-A too, and my son was diagnosed with Tetralogy of Fallot at 21 weeks. He then had to be delivered at 32 weeks, and was quickly found to also have tracheo-oesophageal fistula with oesophageal atresia, for which he needed surgery straight away. We were offered an amnio when we got his cardiac diagnosis, but as we'd been trying for him for 4 years and been through IVF twice we decided against it and chose to have the genetic testing done once he was born. He's now 5, and unless you saw his torso (which has various scars from his surgeries) you would have no idea he was any different from any other child his age. His first year wasn't the easiest, but none if it has hindered him in any way at all.

@ILoveMaltesersIDo

That’s great that your son had such a positive outcome after such a tough first year! Positive stories definitely give me hope.

Did you have any signs before 21 weeks that something might be wrong?

I had a raised NT at 12 weeks which is why they investigated further and did an early anomaly scan.

@Dcw20 No physical signs, I just had a terrible feeling that I couldn't shake off - which, of course, all medical professionals dismissed as me being an anxious first time mum. The low PAPP-A was the only thing that had raised any flags, and even that was only slightly below the threshold.

I am currently 33 weeks pregnant.

Low PAPP A picked up at my 12 weeks. However I wasn't told until I was called for a growth scan at 28 weeks. I'm now having 4 weekly growth scans and all seems ok so far.

Still a worry though.

@Dcw20 what happened with your baby? Mine was diagnosed with double inlet ventricle anomaly and didn’t make it! I am now 16 weeks pregnant, again low pappa but I had a heart scan which came back clear. I have another scheduled when I am20 weeks.

Hi,
I’m so sorry for your loss. I went into preterm labour at 26 weeks completely unexpectedly and my daughter Elsie survived for 6 weeks in the NICU before passing away from complications.

I’m now 18 weeks, PAPPA is within the normal range and just waiting for my 20 week scan to check for any cardiac abnormalities.

I hope everything goes well for you in this pregnancy xx

Hi @Dcw20

I am so sorry for your loss, it must have been hard for you. Congratulations on your pregnancy, I hope everything goes well! Do you have any fetal heart specialists in your area? If you are in London, Harris birthright in King’s college are amazing! As soon as I had my 12 week scan, they booked a heart scan.
Sending big hugs xx

@sidsidsid what happened with your baby?

@mardim

Thanks for the tip, I might have to look into this as I’m getting so anxious waiting. I’m glad your heart scan came back all clear :)

Hi @mardim I’m so sorry to read of the loss of your baby 💔 @Dcw20 and so sorry to hear of the loss of little Elsie 💔 How utterly heartbreaking for you both.

I hope your pregnancies go well, thinking of you both at what must be an anxious time ❤️

p.s no direct experience of heart conditions but my son had a high NT and I had low papp-a so also went through the investigations you had as it was a possibility for him. We got lucky but I’m all too aware of what could have happened. Sending love xxx

Hi @jmm499

Thank you for your post.

The doctors reassured me that there is no correlation between low papp-a and heart conditions, it was just bad luck!

However, going through this experience in your first pregnancy makes you more anxious in subsequent pregnancies. It’s just a shame that you have to wait to 20 weeks to find out the bad news! At least now doctors are keeping a close eye on me but still wonder what causes low papp-a.

@mardim you’re in good hands ❤️ But yes I appreciate how anxious it makes you - so sorry for your previous experience 😔

Apologies, I should’ve clarified that the amnio and heart scans we had were because of our son’s high NT rather than the low papp-a.

Wishing you all the very best Xx