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Antenatal tests

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Original poster

Ive come back as 1 in 5

123 replies

sweetchilli77 · 03/11/2016 19:20

Midwife phoned to tell me my results show i am 1 in 5 at risk of T21.

I was taken aback really and wasn't really listening to the results she explained.

She went on and explained about diagnostic testing and to discuss with Hubby.

She said the scan was fine, just the bloods

I have decided to have the amnio test after she explained the risk and % of miscarriage .
Has anyone any advice on this? like does the procedure hurt? how long do results take etc.

Im frightened :(
This is my 1st pregnancy and I'm 39 at the end of the month.

OP posts:
Original poster
sweetchilli77 · 16/11/2016 13:35

Bloody hell....ive never heard anything like it. I can only imagine now what your going through. fingers crossed its all a load of bollocks x

OP posts:
Bumblebee84 · 16/11/2016 14:47

Thank you, it's surprising I actually feel more relaxed. My partner has a glimmer of hope that there couldn't have been to many t21 chromes in the sample if they have no answer. Surely regardless of the DNA mixed if there were to many they would still have a positive? X
So confused 😔

Coi123 · 16/11/2016 15:14

I would have said so Bumblebee. When they took my sample they mentioned it was a good and clear sample, if yours wasn't you would have thought maybe they would notice so fingers crossed this all points to positive signs for you :-) my sample confirmed my baby had DS and ladies on here were negative for DS when they had the test so whatever your outcome we are all here if you need us. Crossing my fingers and toes you get the answers you want Smile

Bumblebee84 · 21/11/2016 17:48

Just a quick update, still no results 😒 I've left messages at the fetal medicine unit no reply.
I'm hoping no news is good news but it's becoming frustrating not having answers now.
I've been offered no counciling and anxiety has taken over, I'm no longer eating or sleeping properly at all x

Original poster
sweetchilli77 · 21/11/2016 20:00

Bumblebee84 I have been keeping an eye for you but i understand what emense pressure you must be under and mumsnet isn't your priority.

I am by no means gonna preach and say try and not worry cause that that would be pointless, but do try and eat a little.

I think its quite poor that communication is lacking in a big way here and answers are needed..

When i was waiting it was that which was the killer rather than what the actual outcome was gonna be.I just needed to know so i could move on to the next part. x

Thinking of you

OP posts:
Coi123 · 21/11/2016 20:25

Bumblebee I'm so sorry that you are still waiting. I can't even imagine what that feels like. I think it is just awful that you are being made to wait so long! I have been thinking of you. Sending you positive energy xxx

Bumblebee84 · 22/11/2016 08:54

Thank you both, I have officially given up any hope I had. I just need to know so I can clarify with my poor children that are also so unsure of what's going on. I called this morning and they confirmed they still have no results.
I have read a few times now that a delay is usually positive results being double checked.
I need some closure to all the emotions I am feeling. It's now been two weeks with nothing. 😢

Bumblebee84 · 22/11/2016 08:59

Coi may I ask what choice you made after your positive result?
I'm very torn as I have so many factors to consider and we have 6 other children who we have to consider the possible effects it may have.
I completely understand if you would rather not share it with me.

Coi123 · 22/11/2016 09:53

No I don't mind at all. It was an extremely tough decision but our baby had T21 plus heart problems and we decided to terminate. It broke my heart but we don't regret our decision as we felt it was the right thing to do for our baby. We haven't told anyone apart from our parents as people unfortunately can be very judgemental and it's such a horrific thing to go through that we couldn't cope with anybody passing any sort of negative comments. Unbelievable that people actually do that, I just wouldn't dream of it. I am a teacher and I have taught children with DS so I already knew alot about the needs of children with DS and I also did extra research before I made my decision. ARC are just brilliant at helping you to make sense of everything. I know people go on to have children with DS and they are doing ok but everyone and every situation is different. You have to go with what you think is right for you, your baby, and your family. No one here will judge. Here if you need to talk, ask me absolutely anything. X

Original poster
sweetchilli77 · 22/11/2016 16:49

Please don't be hard on your yourself, me and my partner had decided that if we where positive for T21 then we would also terminate.I had to consider my other little baby who was only born at 28 weeks and comes with her own health needs.

Like Coi123states, its YOU who is living with whatever decision you make. People are full of opinions but its not their life.

OP posts:
Bumblebee84 · 22/11/2016 19:54

Thank you both, it's been really lovely to hear your stories, talk to you and you listen and understand with no judgement.

This afternoon I finally had that call....My little girl is a very rare case of extremely low mosaic Down syndrome.
She has such low levels the reason they took so long was they struggled to get a result.
All in all she should be ok but I want to make my decision more so on her health.
😊 X

Bumblebee84 · 22/11/2016 19:56

Coi you made a very brace decision and I told have done the same.
I have respect for whichever path people in our shoes chose, everyone's life is different with many different factors to take on board. X

Bumblebee84 · 22/11/2016 20:19
  • brave! Grrrr my stupid phone
Fairybella · 22/11/2016 20:29

Ladies you are all so brave and strong.

Bumblebee how are you feeling

Justputyourshoesonnow · 22/11/2016 20:50

This reply has been deleted

Message withdrawn at poster's request.

Bumblebee84 · 22/11/2016 21:00

I'm actually feeling really clear and confident. The fetal medicine dr who called kept emphasising how low our little girl is. I'm hoping now that she's correct in that she's so low a carrier she will not have any health issues.

Original poster
sweetchilli77 · 22/11/2016 21:22

Bumblebee84 Im so glad you have the results and can finally move forward.

TBH i had to google Mosaic Down Syndrome, id never even heard of it,and was very surprised with the positive outcomes. At least you now have something to work on and know what your dealing with.

Will you be able to have further in depth scans to check on cardiology etc?

OP posts:
Bumblebee84 · 22/11/2016 21:37

Mosaic was something I had fully looked into as it was a really odd feeling I had when I had the amnio.
There is a good chance with such low levels our little girl will not be affected to a degree that is noticeable.
We will meet with geneticists and we will have an in depth scan now to check her fully in depth and then she will have a full heart scan.
My hopes are very high considering I had none left at all the past few days.
The dr today was great, she really made it clear how a low a level but that they are still working on our samples to get an exact % of how few chromes are affected.
I'm not so nervous about the scan now, the positive feeling I had all along that things would be ok is back.
Also I would never recommend the Iona test to anyone!
We paid £400 to be told our baby had >100,000,000:1 and > 95% chance of having full ds. There is no way our little girl has enough affected cells to give that result.

Coi123 · 29/11/2016 17:46

Sorry for the late reply ladies I broke my phone. So pleased that you got those results bumblebee, please keep us posted about how you and your little girl are getting on. It's so nice to hear these lovely stories about healthy babies. I had to google mosaic ds too! Xxx

Bumblebee84 · 01/12/2016 19:41

Today the full report come in no t21 cells grew so now they have an inconclusive result for our baby.
However they are going with she is still low level mosaic with less then 20% affected. They just can't be sure.
This is so hard 😔

Fairybella · 01/12/2016 20:44

Oh no... this must be torture... how many weeks are you now? Sometimes it's the not knowing what is worse

Original poster
sweetchilli77 · 01/12/2016 22:24

Bloody hell Bumblebee84 its just never ending uncertainty . (hugs) Like others say its the not knowing the definite answers....

Are you still feel positive though?

I mean i don't even know what to suggest in all of this.....whats the next step?

OP posts:
Bumblebee84 · 02/12/2016 03:15

Well only the two normal t21 cells were there.
It's all so confusing......
The way she explained it is to prepare for low level mosaic because they seen a few extra cells previously affected. If it's somehow an error or contamination "normality" is a bonus and easier to accept when you see it.
She said a lot rides on the echo heart scan now. As that's a big key to if or what could be affected but still not a given. If the heart is all normal it is a really good sign.

I feel more positive,I've read one story similar to this case and her baby was ok and it was placental cells that seeped into amnio fluid she'd X had confined placenta mosaicism.
I just have to prepare for the unknown.
Yet pray for the best, scans are on the 12th so I'll know more then.

Coi123 · 02/12/2016 07:31

Goodness Bumblebee, what an ordeal you have been through! Fingers crossed for you that all will be well on the heart scan. I think they would have already picked up if there were any problems with her heart so they are probably just double checking. Hoping you get your answers soon, you have had such a rollercoaster already xx

Bumblebee84 · 02/12/2016 07:44

Sorry I forgot I'm now 19weeks I have my 20 week normal NHS scan on the 7th and the fetal specialist scans on 12th.
I think they would have as 12 week was perfect and 15 no problems so please keep all crossed. I will keep you up to date. X