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Screen positive 1 in 60 chance baby has downs syndrome

10 replies

Bigkingdom · 06/05/2020 12:28

Just had a call from the screening midwife to say my combined test has come back as a 1 in 60 chance that my baby has downs syndrome. Sad

She said my PAPP A and hCG levels were slightly raised and i’m 38 which could make the results come back as high.

I feel so anxious and worried Sad

OP posts:
Fredsgirl19 · 06/05/2020 14:18

I'm sorry you are going through this. I am also going through the exact same thing but with sadly worse odds than you. Has the hospital given you options for next steps? For what it is worth I opted for the CVS test and even though the thought of it is horrendous the procedure itself was less painful than a blood test and over within a minute.

I'm afraid I can't give you much guidance on the heartache and pain. I have cried for three days straight pretty much. You should just let yourself feel how you need to feel. I have read hundreds of posts from women how had similar odds to you and tests came back all clear. Or you may decide to do nothing and that is also your decision

BrooHaHa · 06/05/2020 14:31

Sorry to hear that, OP. The odds are still massively in your favour though. Ask if you can have the NIPT screening? Or you can always pay privately, though it is expensive.

Bigkingdom · 06/05/2020 14:48

@Fredsgirl19 i’m sorry you are going through similar, good luck with your results.

I have spoken to the midwife again and opted for the NIPT which i should have tomorrow if she calls me back. If that comes back high i will have the CVS or amnio

OP posts:
Liveforholidays · 06/05/2020 14:51

It's such a tough time. You should have been given some guidance about options for what to do next? I had much, much worse odds than you (1 in 13) and opted for NIPT which came back 'highly unlikely'. I was out of the time scale for CVS unfortunately so would have had to have waited for amnio at 16 weeks. It's a hard decision to make but odds are very much in your favour.

Liveforholidays · 06/05/2020 14:55

@bigkingdom just read your response. Glad youve made a decision. I spoke to a charity called ARC who were AMAZING. They explained that unless there were concerns at the scan (such as high nuchal fold) or abnormalities seen most women opted for NIPT as it is highly accurate. Good luck.

Bigkingdom · 06/05/2020 15:03

@Liveforholidays thank you. There was no concerns at my scan. NT measured 2.6mm which i was told is within normal range. They never mentioned any other concerns. I pray its just my age giving me a high chance.

OP posts:
Liveforholidays · 06/05/2020 15:11

@bigkingdom Same as me! I'm 40 at EDD (in 3 week's time!), scan was all normal. My nuchal fold at 13 + 2 was 2.5mm so not concerning. My papp a was low (0.37) and hcg high at 2.0. It was explained to me that the screening test aims to catch as many people as possible. Our gives us an opportunity to do extra testing if we want to.

Bigkingdom · 06/05/2020 16:27

@Liveforholidays my head feels such a mess. I woke up this morning so happy, was sitting in an online webinar for uni when i got the call and that was it, i didn’t hear anymore of my lecture. I’ve been reading non-stop and one minute i think “the odds are in my favour and baby will be fine” and the next i burst into tears because i’m scared the result will come back as a high probability.

The midwife called me to say my NIPT is tomorrow at 2pm and then about a week for the results.

OP posts:
LeGrandBleu · 06/05/2020 23:13

I had a 1:49 risk. My nuchal test was good but combined with blood it crashed from somewhere around 1: 1200 to 1:49.
I had an amnio and everything was fine.
The geneticist then told me in many, the alpha protein in the blood gives false positive probability.

I had the result for down in a week.
I believe you should read here to determine if the NIPT is the right test for you, make sure to especially read the comments about the false positive. www.nuffieldbioethics.org/blog/nipt-private

LeGrandBleu · 07/05/2020 00:22

@Bigkingdom sorry meant to add before posting :

I have been through what you are enduring, and having suffered previous late miscarriages at 22 weeks and 16 weeks, my piece of advice if you go for certainty and not a halfway solution.

Answers with CVS is as quick and 100% accurate

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