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Original poster

Screening high risk

82 replies

Mum2boys12 · 01/05/2021 12:09

Hi

I am 12 weeks 4 days pregnant.
I had the usual scan at 12 weeks and opted for the screening.
My results came back high and i am so so worried/anxious.
So they have gave the baby a 1.1 chance of having down syndrome.
I didnt ask on the phone what had had this result as i checked babys NT and it was 2.8 as far as im aware this is normal?
Can only think its something in my bloods?

We are having a harmony test tuesday so we can be prepared. Has anyome had a high risk result and a low risk resukt through the harmony test?

Im so anxious i feel so ill.
Im 33 and have two healthy children.

Thank you.

OP posts:
Original poster
Mum2boys12 · 12/05/2021 07:01

Just an update.

My results have come back as high risk. My hearts in peices. Im unsure of the next steps.
I really thought we would be ok.
This experience has broken me and its not over yet 😭💔

OP posts:
mamamalt · 12/05/2021 07:08

Oh no @Mum2boys I'm so sorry to hear that!
When did you find out? Did they give you any idea of what the next steps are and what support they give?
I'll be thinking of you. Keep us updated. We're here for all your thoughts as I'm sure they will be ones we have all had.

SarahD19 · 12/05/2021 15:20

@Mum2boys12 do you mean you’ve just had a high risk screening result or have you had an actual diagnosis?

If there are markers or you’ve had amniocentesis, that is a higher likelihood of a diagnosis than just a NIPT. Although either way I appreciate it is a stressful journey x

SarahD19 · 12/05/2021 15:22

@Mum2boys12 do you mean you’ve just had a high risk screening result or have you had an actual diagnosis?

If there are markers or you’ve had amniocentesis, that is a higher likelihood of a diagnosis than just a NIPT. Although either way I appreciate it is a stressful journey x

Original poster
Mum2boys12 · 12/05/2021 15:29

I have had a high risk result from the Harmony test.
I called fetal medicine and left a msg for a call back but have had no response yet.
I feel so alone and so hearrbroken.

I feel incredibly unlucky and im sorry if thats hard to hear. I cant stop getting upset. My hearts broken.

OP posts:
Original poster
Mum2boys12 · 12/05/2021 15:34

I have had a high risk result from the Harmony test.
I called fetal medicine and left a msg for a call back but have had no response yet.
I feel so alone and so hearrbroken.

I feel incredibly unlucky and im sorry if thats hard to hear. I cant stop getting upset. My hearts broken.

OP posts:
Original poster
Mum2boys12 · 12/05/2021 15:36

I have had a high risk result from the Harmony test.
I called fetal medicine and left a msg for a call back but have had no response yet.
I feel so alone and so hearrbroken.

I feel incredibly unlucky and im sorry if thats hard to hear. I cant stop getting upset. My hearts broken.

OP posts:
SarahD19 · 12/05/2021 17:47

Sending you strength and positive thoughts. Which trisomy has been flagged as higher risk? Hope you’re ok and have support around x

SarahD19 · 12/05/2021 17:58

Were the odd of NIPT positive results properly explained? In terms of Positive Predictive Value, NIPT is generally 90% accurate at most. In some instances the PPV is less than 50%. Hence it is really important you know what your specific circumstances are - and decide if you would like to have a test that could tell you more - or just accept you may be higher risk for a certain condition and manage that uncertainty however you can.

If I can help at all, please feel free to PM. Screening and diagnostic processes can be very drawn out and stressful. But you are far from alone x

Original poster
Mum2boys12 · 12/05/2021 18:04

Hi

Thank you for your words.
The results from the NIPT just came through as a high risk result so high probability. I am having a amnio on monday although i feel i already know the outcome. So much heartache.

OP posts:
SarahD19 · 12/05/2021 18:22

@Mum2boys12 I’m going to pray it is a false alarm for you. I know that the NIPT is more accurate in predicting Downs but the accuracy is really very poor for many other Trisomies, unless within the context of other higher risk factors.

I wanted to make sure the results are explained properly as sadly I know too many instances people just get told the test is “over 99% accurate”. However a positive result is never that accurate with NIPT. At most around 90% accurate. In the general population for instance, it is about 37% and 49% accurate for Edwards and Pataus respectively.

There is a stronger chance the test is accurate, particularly as you’ve had a high risk screening; however it is still important that the above has been fully explained to you x

Original poster
Mum2boys12 · 12/05/2021 18:28

To be honest nothing has been explained to me. All i know is i was 1 in 91 for the 12 week screening and so i had the NIPT and now thats come back as high probability. I feel i just want this all over and have zero medical support. I have my partner but ny family seem to have backed off probably because im just a in a depressive state and no words can comfort me.

OP posts:
SarahD19 · 13/05/2021 07:15

@Mum2boys12 How are you doing today? Have you been offered amniocentesis?

I think it is natural to feel upset. However I am also a little concerned that it doesn’t sound like this process hasn’t been explained to you. Here if it helps to talk. X

Original poster
Mum2boys12 · 13/05/2021 07:18

Hi sarah

I feel a little less tearful today.
I am booked in on Monday for an amniocentesis. I feel i already know the answer and its more heart ache.
I just want this nightmare over.

OP posts:
SarahD19 · 13/05/2021 07:34

Sorry you did mention amnio in a previous post. I know it is awful going on this journey. Everyone else assumes after 12 weeks everything is fine and congratulate you etc - don’t really know how to respond when you explain the prognosis etc isn’t clear.

Either way, am thinking of you x

JaiPow · 14/05/2021 02:20

@Mum2boys12
I feel your stress right now. I was there just a month ago. My screening came back 1:4 for DS and it was recommended to do amnio from there. We found out 3 days later baby did not have T21, T18, T13 and 3 weeks later the full screen baby has normal chromosomal make up.

I found it best to keep myself busy because wondering and worrying made it worse.

Thinking of you 💕

Original poster
Mum2boys12 · 14/05/2021 07:13

Your incredibly lucky and blessed at 1 in 4 and baby being healthy. I am so happy for you that u and you have the answers you need. I wouldnt wish this on anyone.
My odds were 1 in 91. I have no hope left in me just despair.
I am so scared about the amnio.
As the days go by i do feel a little stronger or maybe im accepting the inevitable im not sure, my emotions are all over the place. I really just want it over.
Im not sure how this is mentally going to affect me i just hope i will forgive myself fir the choice i have made. I am sorry if thatd hard to hear but i wont be carrying on with the pregnancy anf certainly wont be trying for another. This is definitely up there with the worst experience in my life.
I have to accept it.

OP posts:
JaiPow · 14/05/2021 20:16

@Mum2boys12
The other results you received back is rather confusing, but your 1:91 odds, it's likely things are okay. If they are not, terminating does not make you a bad person. Choosing to raise a child with disabilities is a tough decision, and had my results been different, I would have made the same decision as you. Many parents do, according to the research I did when I was in the waiting phase.

Thinking of you and hoping for the best

PurpleFlower1983 · 15/05/2021 10:50

Hoping for the best for you, the amino will be able to give you a conclusive result rather than just a probability so don’t lose hope yet x

Original poster
Mum2boys12 · 15/05/2021 15:28

Thank you ladies.
I feel numb today.
@JaiPow did the amnio hurt at all?
This feels like such a long torturing process.
X

OP posts:
SarahD19 · 15/05/2021 15:45

I realise you haven’t asked me. However my personal experience is that amniocentesis is a lot better than CVS in terms of soreness. Neither procedure is painful as such, but both a bit uncomfortable and unpleasant. CVS I had bruising from for ages, but amniocentesis I recovered from very quickly in comparison x

Original poster
Mum2boys12 · 15/05/2021 16:15

Thank you @SarahD19
My anxiety is through the roof with all this.
My heart is broken.
I feel self pity like why me and im not usually that way inclined at all.
Thank you everyone for your kind messages. They mean alot. Your helping me in ways u will never understand x

OP posts:
SarahD19 · 15/05/2021 16:36

@Mum2boys12 honestly don’t ever think you’re alone in those feelings. I know I flitted between initial feelings of “why me?” And getting annoyed at myself thinking “well why not me?” when I was on my screening/diagnostic journey.

For a couple of months it felt really hopeless. Multiple professionals broached the subject of termination with me due to what the various tests suggested. However we have been fortunately blessed with a perfectly healthy baby.

If it helps at all to talk, please feel free to contact me. X

JaiPow · 16/05/2021 02:05

@Mum2boys12 the amnio was about a minute, and felt weird but didn’t really hurt. My stomach was achy that afternoon and no pain otherwise. It was surprisingly uneventful.

Just a few more days 💕

Original poster
Mum2boys12 · 16/05/2021 06:21

Does anyone feel comfortable with talking about a medical termination with me?
I know its a awful subject and not something i ever thought id find myself in. I am curious to know if they will give me memories of my bubba. My choice to not have a disabled child is very true but my love for the little one is none the less. They was never a mistake to not rmeber or respect. Ill alwsys remember 😢 x

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