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Talk about every stage of pregnancy, from early symptoms to preparing for birth.

Original poster

1 in 2 Chance of Down Syndrome

33 replies

Lea687 · 30/07/2024 03:17

Hi, I had my 12 week scan on Thursday and was told the NT was 4.3mm - I've had my combined test blood results back today & it's come back 50/50 - 1 in 2 for DS & 1 in 380 for ES & PS.

I'm 24 years old and this is my first baby, everything is so new to me and this has given me a completely new story to go through. Never in a million years did I expect my first pregnancy to go like this, I feel so guilty feeling the way I do.

I'm posting this to ask for support advice 9; help. This is a hard time for me and my boyfriend & something we never anticipated.

I apologise massively if I sound disrespectful or ungrateful but I'm finding it so hard to put into words what I am thinking and how I am feeling.

1 in 2 Chance of Down Syndrome
OP posts:
neighbourfriend · 30/07/2024 03:46

You don't sound disrespectful or ungrateful, you sound shocked and confused which is completely valid. We all hope for a smooth pregnancy and I'm sorry this has not been the case for you. We also all imagine what our children will be like, and you won't have imagined this. You will be offered lots of information/support from the hospital and my only advice really is to take the information on board, talk honestly with your partner, and don't feel guilty for however you are feeling.

Sinderalla · 30/07/2024 04:27

Are there any further tests you can get to prove one way or the other x
I'd be feeling the same if I were you

Whatatodo79 · 30/07/2024 04:30

Oh how sad to not be able to enjoy a first pregnancy. Please don't let anyone else tell you what to do or how to feel here. It's ok to mourn this. Have you been offered any counselling to help you both decide what to do here? Or maybe any further testing?

Saroo2 · 30/07/2024 04:31

Have a look at harmony testing, I believe they are able to do further non invasive tests to determine likelihood. Remember it is yours and your partner's decision and no one else's, so have lots of honest discussions and see where you get to but please try to feel less guilty for your feelings they are only natural (easier said than done I know) x

autienotnaughty · 30/07/2024 05:18

How you are feeling is completely valid. This is your body , your pregnancy, your choice.

I would see if there's further testing you are comfortable with to get a definite answer. Then once you know only you can decide what to do. There's no right or wrong answer.

Good luck Flowers

Needanewname42 · 30/07/2024 05:43

I'm with the others see if you can get other tests.
Then you and DH / DP should seek councilling before you make a decision.

I have limited knowledge of Downs but I believe many are born with holes in the heart and other issues.
Some will eventually become independent, most won't.

There is always a perception it only happens to older mums, but the only person I know of with a Downs child had them at just 19.

GreenTeaLikesMe · 30/07/2024 05:46

I would think you'd need to ask for an amniocentesis, OP. It's not non-invasive (unlike Harmony) but it produces 100% accurate results, which is what you need with such a high risk so that you can have the full facts and make your decision. I'm so sorry you are going through this. Are there people in RL you can talk to, to help you get through this?

whateveryouwantmetosay · 30/07/2024 05:56

Definitely gave further testing OP. Your choice from there is entirely yours (no judgement here either way as I don't know what I'd do).

Pollypocket81 · 30/07/2024 05:58

I'd definitely get a Harmony test. It is non-invasive to the pregnancy as it's only a blood test of your blood, so it cannot harm the fetus and whilst it's not 100% accurate for Downs Syndrome testing, it is over 99% accuate. (98% for Edwards Syndrome and 94% for Patau syndrome). I don't know if available on NHS (think probably not) but would go private as you'll want to know as soon as possible. If the Harmony test indicated a positive and you were thinking of termination, then amniocentisis would be the logical step to be 100% sure.

PurBal · 30/07/2024 06:04

This sounds really hard OP. Definitely have further tests. Thoughts are with you.

Downtherabbithole83 · 30/07/2024 08:06

There’s lots of information (and other people going through the same) on the antenatal tests board - it might be worth posting on there or just looking through it for support.

I had a 1 in 4 chance of T21 but baby’s NT was over 9mm! Diagnosis was confirmed with CVS (which was okay, just a bit uncomfortable) and, after researching all of the other health risks associated with the condition, we chose to tfmr.

It may be worth reaching out to Antenatal Results and Choices (ARC) - they are a brilliant charity and can offer support and advice for you.

So sorry that you’re going through this but know that you are not alone.

malimoon · 30/07/2024 09:40

Sorry to hear this! I also had a higher risk result at screening (albeit not as high as yours) so can empathise a bit with the worry you are feeling. The fetal medicine nurses at your hospital should be able to talk you through your options from here but if I were you I would probably be looking at a CVS or amniocentesis. These both involve using a needle to take samples from the amniotic fluid/(not sure about CVS but it's similar) and can give you a definitive answer about whether your baby has one of these conditions. If the risk was lower you could have a NIPT (non invasive blood test) but it's my understanding these are less accurate when the risk is very high. Remember tho at the moment it's still 50-50 so I would say definitely worth making sure. You might also be offered extra scans so that you can check on baby's overall health. Then you will be in a better position to make decisions about what to do, with a lot more information about the situation.

I will say the fetal medicine nurses I interacted with were absolutely lovely and willing to answer any questions I had so definitely talk to them and they can advise on everything

Wishing you the best of luck

Easylikeasonntagmorgan · 30/07/2024 09:45

Sorry you're going through this OP. I went through similar and my child has DS - I decided to continue my pregnancy. I opted for the harmony test as I didn't want to put my pregnancy at any further risk - drs at the time were happy with this result to confirm my child had DS.

SoReadyForAHoliday · 30/07/2024 09:47

Hi Lea. I’m so sorry that you’ve had such awful news. We’re in a similar situation, we also had bad news at our 12 week scan last Wednesday. I can’t really offer you any advice but I’ll share our story so far and if you’ve got any questions then you’re more than welcome to ask. I’m afraid it’s a long read but I’ve tried to make it as detailed as possible…

I’m 34 and already have a son who is almost 6. We’d been trying for a second child since he was 2, and were amazed when we got a positive pregnancy test back in May. During the 12 week scan we found out that our baby had a high NT of 8.1mm as well as a large build up of fluid on its abdomen. They took us to a private room to discuss what that means and what our next steps will be. That was by far the worst day of my life. They suggested that I have a CVS test where they put a needle into the placenta and take a sample of DNA which tests for chromosomal abnormalities. They said that my screening test would likely come back high as it is heavily weighted by the NT test (it did come back high.. 1 in 4 for Downs Syndrome and 1 in 124 for Edward’s and Patau) but the CVS would give us a definite result. They warned that sometimes the DNA can get mixed up with the mother’s DNA and if that happens I’d need to wait a further two weeks and have an amniocentesis, there’s no risk of my DNA getting mixed up in this test but you have to wait longer to be able to have it, 15/16 weeks I think they said. We were also told that the fluid build up on our baby could possibly have been caused by a chromosomal abnormality but they thought it was more likely to have been caused by an infection that I’ve been exposed to or problems with the baby’s organs which can’t be seen at 12 weeks. Due to the fluid build up they told me that I was a high risk of miscarriage.
We had to wait 5 days for the CVS appointment, which was yesterday. It was just like going for a 12 week scan but with a midwife in the room as well. I kept all my clothes on and just pushed my trousers down slightly, same as for the scan. They scanned me to check that the baby was still alive, it was, and then they looked to see if they could do the CVS test. Unfortunately for me they said that I have a retroverted uterus, which is apparently quite common and nothing to worry about but it meant that they couldn’t do the test because the space between my bowel and bladder was too small and they risked puncturing one or the other. They’ve booked me another appointment for two weeks time to see if they can do the CVS then and if not they might offer the amniocentesis. If you have the CVS they would want to take a blood sample from you and from your partner. Whilst I was there they look a sample of blood to test for infection and because I couldn’t have the CVS they offered me the NIPT test free on the NHS, this is a screening tests for Down’s Syndrome, Edward’s and Patau but is more reliable than the one they do at the 12 week scan. Apparently if your baby tests positive for a chromosomal abnormality then you’ll be offered this test for free during any future pregnancies, no matter what decision you make. We also received a detailed report of the scan that they did before the CVS test, which explained that due to the fluid build up our baby only has 5% chance of surviving to term. We’re now waiting for the results of the NIPT, if that comes back clear they want us to have further testing before making a decision about TFMR, if I don’t miscarry before then.

Have they offered you a CVS test? If so I hope it comes back all clear. Wishing you all the best, you’re not alone in this x

BigGrubbyFlowerPot · 30/07/2024 09:49

Oh that is tricky, I'm wasn't offered a harmony test (possibly they weren't around then) so had a CVS at 13 weeks. Turns out she was fine, but would have terminated had she not been. It's an entirely personal decision. Good luck.

FairyLightBan · 30/07/2024 09:50

What's PS and ES? How will affect baby long term?

Easylikeasonntagmorgan · 30/07/2024 09:53

SoReadyForAHoliday · 30/07/2024 09:47

Hi Lea. I’m so sorry that you’ve had such awful news. We’re in a similar situation, we also had bad news at our 12 week scan last Wednesday. I can’t really offer you any advice but I’ll share our story so far and if you’ve got any questions then you’re more than welcome to ask. I’m afraid it’s a long read but I’ve tried to make it as detailed as possible…

I’m 34 and already have a son who is almost 6. We’d been trying for a second child since he was 2, and were amazed when we got a positive pregnancy test back in May. During the 12 week scan we found out that our baby had a high NT of 8.1mm as well as a large build up of fluid on its abdomen. They took us to a private room to discuss what that means and what our next steps will be. That was by far the worst day of my life. They suggested that I have a CVS test where they put a needle into the placenta and take a sample of DNA which tests for chromosomal abnormalities. They said that my screening test would likely come back high as it is heavily weighted by the NT test (it did come back high.. 1 in 4 for Downs Syndrome and 1 in 124 for Edward’s and Patau) but the CVS would give us a definite result. They warned that sometimes the DNA can get mixed up with the mother’s DNA and if that happens I’d need to wait a further two weeks and have an amniocentesis, there’s no risk of my DNA getting mixed up in this test but you have to wait longer to be able to have it, 15/16 weeks I think they said. We were also told that the fluid build up on our baby could possibly have been caused by a chromosomal abnormality but they thought it was more likely to have been caused by an infection that I’ve been exposed to or problems with the baby’s organs which can’t be seen at 12 weeks. Due to the fluid build up they told me that I was a high risk of miscarriage.
We had to wait 5 days for the CVS appointment, which was yesterday. It was just like going for a 12 week scan but with a midwife in the room as well. I kept all my clothes on and just pushed my trousers down slightly, same as for the scan. They scanned me to check that the baby was still alive, it was, and then they looked to see if they could do the CVS test. Unfortunately for me they said that I have a retroverted uterus, which is apparently quite common and nothing to worry about but it meant that they couldn’t do the test because the space between my bowel and bladder was too small and they risked puncturing one or the other. They’ve booked me another appointment for two weeks time to see if they can do the CVS then and if not they might offer the amniocentesis. If you have the CVS they would want to take a blood sample from you and from your partner. Whilst I was there they look a sample of blood to test for infection and because I couldn’t have the CVS they offered me the NIPT test free on the NHS, this is a screening tests for Down’s Syndrome, Edward’s and Patau but is more reliable than the one they do at the 12 week scan. Apparently if your baby tests positive for a chromosomal abnormality then you’ll be offered this test for free during any future pregnancies, no matter what decision you make. We also received a detailed report of the scan that they did before the CVS test, which explained that due to the fluid build up our baby only has 5% chance of surviving to term. We’re now waiting for the results of the NIPT, if that comes back clear they want us to have further testing before making a decision about TFMR, if I don’t miscarry before then.

Have they offered you a CVS test? If so I hope it comes back all clear. Wishing you all the best, you’re not alone in this x

Sending you lots of love. Your story is almost exactly the same as what I went through. For me, the fluid had gone when I went for my scan at 16 weeks, after the consultant previously telling me I had a 99% chance of miscarriage.

Wishing you all the best Flowers

Geneticsbunny · 30/07/2024 09:54

Patau syndrome and Edwards syndrome. They are pretty bad and lead to significant reduction in lifespan and a significantly disabled child.

LizzeyBenett · 30/07/2024 10:04

You poor thing I mean I'm sure that's most peoples fear isn't it that something would be wrong and I even hate calling DS something wrong because they are beautiful little babies and children but obviously a completely different life than what you dreamed of. I was terrified my baby would have DS as I'm an older mammy but ultimately decided not to have the test as I knew no matter what I would love her unconditionally so I suppose you need to really think about what it would mean if they do have DS and if you can cope with that ? Really hope it all works out for you x

Lindy2 · 30/07/2024 10:09

I'm sorry you are having to go through this.

I think I would need to have further tests so I knew for sure what the situation was.

Phoebefail · 30/07/2024 10:24

So very sorry that you are having to cope with these problems. I had a sister with Downs, Very dependent, had to be looked after her whole life. She lived to be 60. PM me if you would like to later.

AmberFawn · 30/07/2024 10:26

DS and disability are a spectrum so you can never predict how it may present if your child is born with additional needs. But as someone with a significantly disabled child who is nearly a teenager I would advise you to also research what life can be like caring for a child with a disability. You’ll get a lot of people on here trying to be positive but the reality is it can be tough, really really tough.
I’m so sorry you’re having to go through this, can imagine you must be completely devastated and in shock right now. X

MaltipooMama · 30/07/2024 10:30

Really sorry you're going through this, I can only try and imagine how confusing and difficult this must be to take in. As other posters have suggested, you can do further testing to confirm definitively. A close friend of mine had the same scan a few years back and was told there was a one in three chance that her baby would have Down's Syndrome and then further testing was carried out which confirmed she definitely didn't and was born completely healthy. Good luck x

sunburnandsangria · 30/07/2024 10:32

I have a friend who had exactly this - 1 in 2 chance from 12 week scan & bloods. They subsequently had a CVS test which came back all clear. He was born without any conditions or problems and is now a healthy gorgeous 12 year old.

You need additional testing so you have enough information.

Sdpbody · 30/07/2024 11:08

You can do a Harmony test from 10 weeks and it will give you a 99% certainty. They separate your blood from the foetus' blood and then can test their chromosomes.