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Original poster

1 in 5 downs syndrome 1 in 89 edwards/pataus

30 replies

DoctorBambino · 22/07/2021 13:13

Hi,

I've just received the dreaded call saying I'm high risk for all 3. 1/5 for downs and 1/89 for edwards/pataus.

This is an ivf pregnancy and I am so heartbroken.

I was scanned at 12 weeks 1 day and my NT was 2.7mm. PAPP A is 0.22 mom and hcg is 1.04.

Booked in for nipt tomorrow. The waiting will be agony so just looking for a hand hold. Oh and I'm 33.

OP posts:
jessicakxx · 22/07/2021 16:20

I am so sorry to hear you've had that worrying news, please try not to get upset or ahead of yourself until you've had further tests done x

I am not sure I can help but it doesn't look like your results are that alarming? They aim for the results to be as close to 1 MoM. Anything above or below is how they give you your result.

So your hcg is normal really. Your Papp-a is low but that alone isn't generally a marker, it's more linked to placenta blood flow and means you have extra growth scans and monitoring (I have low Papp-a too)

Also the NT is under the 3.5mm range, although 2.7 is at the 'higher end'. But still in normal range?

I know that isn't helpful but I just wanted to say I didn't think your results were that off to result in those figures so I am keeping my fingers and everything crossed for you ❤️ good luck with your nipt xx

Original poster
DoctorBambino · 22/07/2021 17:56

Thanks for replying @jessicakxx I completely agree, the overall risk seems huge compared to the individual numbers! The papp a is worrying though.

OP posts:
jessicakxx · 22/07/2021 18:22

As I say try not to worry, low Papp-a is really quite common. I'm 28 weeks pregnant and so far all has been well and normal. I have my first growth scan tomorrow. All it means is extra scans and consultant care which is good as you get to see the baby more. My consultant said it's nothing at all to worry about. Hopefully your Papp-a is what has swayed the result. I will keep everything crossed for you xx

Hilly17 · 22/07/2021 18:27

Sorry to hear you've had this news. I had low Papp-a as well and my little boy was fine. If I remember rightly they wanted to induce me early though because of this as it affects the placenta (?).
We opted for a private blood test to check whether my DS had downs or the others you mentioned. I was an older Mother, IVF and wanted to be sure he was going to be ok.

Original poster
DoctorBambino · 22/07/2021 18:38

Thanks @jessicakxx you're right I should try not to get ahead of myself. I hope your growth scan goes well tomorrow. How low was your pappA if you don't mind me asking?

Thanks for your reply @Hilly17 that's reassuring, can you remember what your pappA was? So glad all turned out well for you. Ivf is enough of a stress on its own without extra worry!

OP posts:
jessicakxx · 22/07/2021 18:44

Thank you! It was 0.34. So not miles away and my hcg was higher at 1.25

My result for d.s was 1 in 362 however my age related risk was 1190 or something. I was incredibly worried as that's 4 x more likely than someone else my age (27). I paid for a private nipt and all returned low risk 1 in 10,000.

X

JanFebAnyMonth · 22/07/2021 18:48

I know it’s a worry, but I wouldn’t be without my Down’s brother!

(I have no idea whether others post on these antenatal boards, not a part of MN I’ve ever posted on.

Not meaning to cause offence or hurt, but it saddens me so much when people don’t see the value of having a child with Down’s.

MrsPelligrinoPetrichor · 22/07/2021 18:52

I wouldn't be without a relative of mine either who has DownsSmile

I hope all works out ok, waiting for results is agonising Flowers

numberthirtytwoWindsorGardens · 22/07/2021 18:58

I had very similar results, OP, but worse HCG and my NIPT came back 1/50,000. It was a hideous wait and I know how awful you'll be feeling now, but have hope - more people get good news than don't. Thinking of you Flowers

Original poster
DoctorBambino · 22/07/2021 19:05

Thank you @JanFebAnyMonth and @MrsPelligrinoPetrichor I appreciate your perspectives. I work in special education so have known many children and young adults with downs. My childminder when I was little also had an adult son with downs so I am very aware of both how lovely and such beautiful souls those with downs are, as well as unfortunately the health difficulties and limits our society places upon them particularly in adulthood. I'm not sure what I would do yet but I honestly never thought I'd be in this position. I've already suffered a ruptured ectopic, lost a tube and had to go through IVF. I've had bleeding throughout the first trimester which has been stressful. I just can't believe I'm falling into these tiny percentages again. Sorry went off on one there... 😊

@numberthirtytwoWindsorGardens thank you so much for your reply. I'm glad it all worked out for you!

OP posts:
MrsPelligrinoPetrichor · 22/07/2021 19:10

I really feel for you. It's nice that whatever the decision IF you need to make one you certainly wouldn't have any judgement from me, just wanted to make that perfectly clear x

mamamalt · 22/07/2021 20:04

I agree with others that your results don't seem so alarming, it's just all things combined that's giving you a scary result!
I was in a similar situation recently and, no offence to anyone who is sharing their experiences but I found it quite upsetting to hear personal experiences of people with downs at this stage in proceedings. That's just me but I want to advocate for the complete right to chose what is best for you as someone's experience won't necessarily reflect yours. I really don't want to start an argument there I just think they are for later down the line. Smile

OP I have heard in all my researching that IVF pregnancies can throw up these results more often so maybe the IVF board would help too?
My results were v similar although not so low Papp-a and I went through with amniocentesis in the end after agonising weeks. I got the all clear three days later and am now 30 weeks. I am hopeful for you based on your results here!
Mine were - 1.2HCG 0.7 papp a and 3mm nuchal and I'm 33!

inneedofhelpandsupport · 22/07/2021 21:23

Also sorry to hear your going through a very anxious, upsetting time....I’m currently going through exactly the same right now! So always reach out and remember support is there 😉
Age 40
IVF pregnancy
NT 1.3 at 12+3 and then 1.5 at 13+5
Hcg 2.75
Papp 0.31
1 in 15 chance of downs
Chose NIPT two weeks ago and was told Monday just gone I needed a re draw as not enough fetal dna.
Had blood tests again Monday afternoon so started the process again and waiting on results which most likely will be next week.. I will be 16 wks on Sunday and have the heartbeat apt tues!!!
Cried so much, worried to death, can’t focus or think properly, positive one minute and so scared the next.... I really hope it all works out for you 😘

MrsPelligrinoPetrichor · 22/07/2021 21:32

@inneedofhelpandsupport

Flowers
MrsPelligrinoPetrichor · 22/07/2021 22:01

I really feel for you. It's nice that whatever the decision IF you need to make one you certainly wouldn't have any judgement from me, just wanted to make that perfectly clear

Sorry, the heat has got to me, that makes no senseHmm It's nice you have experience and can make an informed decision whatever the outcome and I wouldn't judge. Hope that makes more sense.

Original poster
DoctorBambino · 25/07/2021 08:46

I am already finding the waiting really really hard. I've convinced myself I am going to be the one in five. I feel utterly exhausted. Will have to wait for at least another week for the results of the nipt 😔

OP posts:
inneedofhelpandsupport · 25/07/2021 13:21

Hi DoctorBambino, I completely understand what you are going through and how you are feeling right now…I am currently waiting for the NIPT results (second test as 1st didn’t have enough fetal dna), I got the call Monday 5th July so 20days of waiting…thinking…crying…worrying etc.
I too go from convincing myself we are not the one to but someone has to be the one!
All I can say is, take one day at a time…allow yourself the time to cry and think/talk to your partner but then also be kind to yourself…we will know soon enough and then we can deal with the next steps xx

sunshineandsea · 25/07/2021 13:40

Hi OP, I also had a higher chance of Downs with my IVF pregnancy due to having low Papp-A of 0.21. I couldn't have the NIPT test due to reasons I won't go into here as it's a long story but we opted for a private scan with a foetal medicine specialist instead. She was great and said that low Papp-A is very common in IVF pregnancies and she would have guessed my pregnancy was IVF looking at my results, which was very interesting and something the screening midwives at the hospital didn't seem to be aware of. I had extra scans to check growth and placenta function and everything was fine with my DD who was born at 38 weeks. I remember so clearly how awful the waiting was, when you have fought so hard for the pregnancy and like you we had so much bad luck previously and things had happened to us that were statistically unlikely I was sure this would be the same. I really hope everything turns out OK for you xxx

Original poster
DoctorBambino · 25/07/2021 17:07

Hi @inneedofhelpandsupport I'm sorry you're going through this too. It is so so horrible. I am trying to prepare myself for the first nipt to not work! How frustrating.

Hi @sunshineandsea thank you that's helpful I have noticed quite a few ivf mums seem to have low papp a. Can you remember what your NT was? Congratulations on your DD 😊

OP posts:
sunshineandsea · 25/07/2021 17:23

Hi @DoctorBambino I can't remember what the NT was in mm, but looking back at the email they sent me it was 0.84MOM so must have been close to average. My HCG was ok too, it was just the papp A giving us the higher chance of Downs. We were given a 1/101 chance so appreciate not as scary as your situation but I remember so clearly getting that call, and trying to decide what tests we would be happy with and what we would even do with the information anyway, it's a tough situation to find yourself in xxx

Original poster
DoctorBambino · 31/07/2021 07:52

Good news for me, nipt came back low risk for everything!

OP posts:
MrsPelligrinoPetrichor · 31/07/2021 08:32

Great news Smilex

sunshineandsea · 31/07/2021 08:40

That's great news, you must be so relieved! I hope the rest of your pregnancy goes smoothly xx

jessicakxx · 31/07/2021 09:00

I am so pleased for you ❤️

mamamalt · 01/08/2021 06:58

Awww huge congratulations!! All the best for the rest of your pregnancy