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Original poster

High risk for down syndrome

20 replies

Aew2020 · 02/09/2020 16:17

I'm 28 and 14weeks pregnant with our first baby. The midwife phoned me today to say the baby has 1 in 63 chance of having Down syndrome according to the multiple blood tests they completed at my 12 week scan. She said she couldn't give me any further information than that. I'm going back in on Friday for a NIPT. Completely overwhelmed at the moment and didn't expect to have this news. Has anyone gone through similar experiences that they can please share?

OP posts:
Fefefe · 02/09/2020 18:50

Hello there. I had a similar story to yours. I'm 39 and at my 12 weeks scan my babies neck measurement for fluid was 4.mm. I had blood taken from me for the screening test and got a result of 1/66. My results should have been higher due to my age but it appears my bloods were good.

We were offered a amniocentesis test but I didnt want to risk it so we were then offered a earlier scan at 18 weeks to look for markers for downs and to check the babies heart. That all went good and today we had a extra heart scan and to check the babies nose and lips as they were in the wrong position. All is great and we have been discharged from fetal medicine. I am now nearly 22 weeks and having a wee girl!

I guess I am trying to show these things often work out okay and also I know the shock and upset of it all. I cried every day for weeks and whilst I would have kept and loved her if she was downs, it was still a stressful horrible worry. My thoughts are with you lovely x

Original poster
Aew2020 · 02/09/2020 19:36

@Fefefe thank you so much for your reply and for sharing your story with me. I'm so glad things have been positive for you!! It's reassuring to hear. Congratulations on your baby girl :)

OP posts:
Liveforholidays · 02/09/2020 19:52

Hi, I remember the panic of having that phonecall. I had a super high chance, 1 in 13, due to dodgy bloods. I too went for NIPT which came back low risk. I then decided against having amnio and instead waited till my 20 week scan to see if anything showed up. All clear and my baby boy was born in June. It was a very stressful time, and completely unexpected but take a deep breath, chances are all will be fine. I also rang the charity ARC for advice, hopefully you've been given the number. They were really helpful and listened to all of my concerns, I'd highly recommend them.

Original poster
Aew2020 · 03/09/2020 08:50

@Liveforholidays thank you so much for your reply. It's so good to hear positive stories. We have been told that I'm low risk in terms of my age and babies TC is normal so waiting for tomorrow's appointment to get more information. Thank you for your well wishes. Praying for good news after the NIPT test.

OP posts:
tpetrie · 29/12/2020 12:15

i had my scan on 21/12/20 im 31 and the downs screening has come back with 1/66 they have said i can go for diagnostic tests CVS but the NT was 1.6-1.8 so just really worried i had a lg in 2015, lb in 2016 and lb 2017 never had anything like this im worried sick x

Happy2be · 29/12/2020 17:37

@Fefefe how are you getting on?
Im in that boat you were in just now. Nt 4mm and got my scan tomorrow with consultant to check baby out at 16 weeks. I came back low risk with bloods but have booked for harmony test as well on the 2nd.

tpetrie · 29/12/2020 19:04

oh really what is the harmony test? were they quite quick with getting diagnostic tests booked im worried as im 14+2 today wish you well hun.

Happy2be · 29/12/2020 20:10

@tpetrie its all been a bit slow for me. Not through anyones fault. Ive chased them up. Our trust offers the harmony test if you're high risk, so ive went private as im considered low risk. So check if you can get it through nhs. Its meant to be more accurate than the standard NHS blood test. If you google it you will find plenty information. I had originally went for harmony when i was 14 weeks but due to covid my sample didnt arrive to the labs in time. So thats me booked in for the 2nd when i will be 17 weeks.
Phone up your midwife and ask to speak to the fetal medicine midwife and they should be able to give you more details and what your trust offers.

Happy2be · 29/12/2020 20:12

@tpetrie my fetal medicine midwife said they normally wouldnt offer cvs if the harmony testing is carried out as they see it being on par. As they both look for the same things. Not sure on accuracy percentages between the two though

june2007 · 29/12/2020 20:17

Just to say about turning out positive. My nephew does have dS my sister did know but it has turned out positive, he doesn,t have heart probs he doesn,t have another condition that was suggested. he is a happy smiley boy and brings a lot of positivity. DS does not necessarily = negative.

Fefefe · 29/12/2020 21:13

[quote Happy2be]@Fefefe how are you getting on?
Im in that boat you were in just now. Nt 4mm and got my scan tomorrow with consultant to check baby out at 16 weeks. I came back low risk with bloods but have booked for harmony test as well on the 2nd.[/quote]
Hello Happy2be :)

I am 38 weeks and 4 days and having a caesarean a week today!

Everything has been good so far. No further issues. Think we are having a tall baby !

How are you doing ?

Happy2be · 29/12/2020 21:35

@Fefefe thats great to hear!
Im good thank you. Had a mini breakdown at the start due to the unknown but keeping my head clear now. 16 week scan tomorrow so hopefully no issues will be noted.

Fefefe · 29/12/2020 21:55

[quote Happy2be]@Fefefe thats great to hear!
Im good thank you. Had a mini breakdown at the start due to the unknown but keeping my head clear now. 16 week scan tomorrow so hopefully no issues will be noted.[/quote]
I know exactly how you feel @Happy2be. Those 6 and a bit weeks were genuine hell. Every day I cried and worried. Combined with lockdown I felt I was sinking lower. I became detached from my baby bump and I was so convinced it was all going to go wrong so I was trying to self preserve my heart.

The fact you are low risk is something else in your favour !

Happy2be · 29/12/2020 22:00

@Fefefe thats exactly how im feeling. Down to a T. I hate feeling it as well. Yes they said im 1/359 risk which is considered low. You just read so much you end up scaring yourself silly! Ive seen so many people with high NT with no issues. I suppose its all just a waiting game as well. We announced the other week about being pregnant because i didnt want to not acknowledge this baby. It was so tempting to though. To try and ignore and pretend it all wasnt happening.

Fefefe · 29/12/2020 22:07

[quote Happy2be]@Fefefe thats exactly how im feeling. Down to a T. I hate feeling it as well. Yes they said im 1/359 risk which is considered low. You just read so much you end up scaring yourself silly! Ive seen so many people with high NT with no issues. I suppose its all just a waiting game as well. We announced the other week about being pregnant because i didnt want to not acknowledge this baby. It was so tempting to though. To try and ignore and pretend it all wasnt happening.[/quote]
Everybody tells you everything will be okay but whilst well meaning it doesn't stop the worry.

I'm in Scotland and I waited about a week for my blood results. Was told chance of downs but not for Edward's and pateaus as at that point they didnt test for those in scotland. I had been told about them during the blood test so I assumed they tested. I did feel let down by that.

I have my carpal tunnel, water retention fingers crossed for you my lovely !

You just do and tell who feels right.

Happy2be · 29/12/2020 22:13

@Fefefe Same here in scotland. They mentioned to me they tested but only gave me figures for DS. I had spooked myself before getting the results and booked the harmony in glasgow 🙈🤣

Oh i remember that fondly in my last pregnancy 🙈🤣 its lasted about 6 or so weeks after birth too... Hopefully wont be as long for you too!

All the best for c-date ❤️ and thank you for the reassuring words. Means a lot.

Fefefe · 29/12/2020 22:19

[quote Happy2be]@Fefefe Same here in scotland. They mentioned to me they tested but only gave me figures for DS. I had spooked myself before getting the results and booked the harmony in glasgow 🙈🤣

Oh i remember that fondly in my last pregnancy 🙈🤣 its lasted about 6 or so weeks after birth too... Hopefully wont be as long for you too!

All the best for c-date ❤️ and thank you for the reassuring words. Means a lot.[/quote]
I did hear they have started testing for them both now.

Honestly it's a nightmare ! Aye I hope it goes quick smart Grin

Thank you Smile
Please PM me if you ever need a blether and if you feel comfy let us know how you and your wee one are.

Happy2be · 30/12/2020 19:00

@Fefefe scan went well today. Couldnt see any issues and everything as should be. Getting checked again at 20 weeks (3 weeks time) and hopefully that will be us!

tpetrie · 30/12/2020 21:31

so happy for you @Fefefe wish you all the best ive got harmony test booked for Tuesday 5/1/2021 @ UCLH x

Happy2be · 30/12/2020 23:02

@tpetrie so glad you managrd to get one booked! Hopefully help put your mind at ease

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