One in 31 chance of Down’s syndrome

[HopefulRose]

Hi there. I just wanted to share my results and speak to other women/ parents who are or who have been in a similar position before.

I’ve just had the results back from my 12 week prenatal screening report last week. The NT was 3.3mm, HCG 1.49 mom and Papp-A 0.67. I’m 31, a non-smoker and weigh 85kg. The sonographer struggled to get the NT measurement because baby kept moving so we were in and out three times, she clearly was concerned about it but for there eventually and it came in at an average of 3.3mm which is at the closer end of higher.

Midwife called to say I had a one in 31 chance of our baby having Down’s syndrome. The baby is our first and much-wanted. I was convinced I was infertile and unable to have children but fell pregnant quickly (and by surprise) after losing weight earlier this year. It felt like it was all too good to true.

I have been crying all day since finding out and can’t concentrate on work. Husband and I went down to see the midwife this afternoon and agreed to do the NIPT. We’ll have to wait until next week to get the results. We wanted to re-do the scan and blood test but apparently that wasn’t possible.

I feel so many different emotions right now. We will love the baby regardless but the world is cruel and I know life will be much harder for a child with disabilities than one who is traditionally healthy. Sorry this is a bit of a ramble, I just needed somewhere to vent. Feeling a bit lost and sad. Any advice or previous experiences would be great to hear.

I had a 1 in 22 chance with my little boy. This was down to my age (38), higher end of normal NT score and my low Papp-A reading. I opted for an amniocentesis in the end (we also had a 1 in 9 risk of Edwards' and Patau's syndromes). All came back clear in the end.

I found the percentage chance easier to contend with - 1 in 31 is a 3.2% chance of something being wrong, which sounds a bit less scary.

It is definitely worth having a look at www.arc-uk.org/. They offer a great deal of support including a helpline for people in our situation.

I hope you are OK. It is such an unsettling thing to go through.

@Mummy2O

@Mummy2O thanks for sharing your experience and so glad to hear everything came back clear in the end! Must have been a nerve wracking time for you. The waiting is the worst. How did you deal with it?

That’s a good way to look at it in terms of a percentage. To be honest it has completely blindsided me, I’ve spent so long worrying about miscarriage I hadn’t even considered the screening.

I know your situation all too well, we were told to expect our baby to have a 2/3 chance to have a chromosomal issue when we were sent for a cvs. Luckily his tests all came back negative. I know its hard, but try and keep some hope xx

@HopefulRose I was exactly the same. I hadn't even considered that there could be an issue at this point. I was so focused on there being a heartbeat at the 12 week scan, it just didn't enter my head.

I tried to distract myself as much as possible. I spent my waiting time doing a paint by numbers picture, whilst listening to podcasts. It sounds ridiculous but it gave me a break from the worry in a way as it allowed me to zone out. Talking about it when I felt like it (particularly on here) was really helpful in processing how I was feeling. There are lots of people on here with similar experiences. It is worth a search through this board.

Have they given you a date for when you will likely get your results?

I will be thinking of you. Stay strong.

@emma1103 thanks Emma and so sorry to hear you’ve been through a similar thing, all the waiting and worrying is horrible. So happy your results came back negative! Thanks for your kind message xox

@Mummy2O totally get that, I was the same. The only time I started thinking about it was when

Thanks for the advice. Luckily really busy at work at the minute (not that it’s been easy to concentrate!) so trying to throw myself into that. And reading the new Sally Rooney book/ watch rubbish TV after work. Any recommendations for new podcasts welcome!

I was initially told Monday but I emailed the midwife today and she said “middle of next week”. I know they had to post it to a lab in Birmingham. Made me feel nervous when I realised it was going via Royal Mail, not sure what I expected 😆

Thanks for your support, will keep the thread updated xo

@Mummy2O pressed send before I’d finished writing 🤦‍♀️.. meant to say only time I was worried in the 12 week scan was when it was taking ages to get the NT reading

@HopefulRose I was also surprised it went via Royal Mail to the lab. I'd never really thought about it before. It was the same with the amniocentesis sample. I thought I'd misheard them at first.

I will keep everything crossed for you. I hope you don't have to wait too long.

Podcast-wise I am a big fan of Sh*agged Married Annoyed, Katherine Ryan's Telling Everybody Everything and Rhod Gilbert's one - The Froth, (though that one took a few episodes to get into).

Can I join this thread- I'm feeling desperateIy lonely as we haven't announced so no one knows bar me and partner . I should have had my 12 scan on Monday but they pushed it back to Thursday and when we went kn my NT 3.8. The sonographer wasn't happy as she couldn't see nasal cartilage and baby wasn't moving much but had a heartbeat.

I have had quite a few losses and one of them being trisomy baby. So I know from genetic councillor that she said to prepare for a high score just due to my history. So I'm waiting.

Does anyone know how long they take ? They said it could be Monday and I feel like I maybe going mad waiting over the weekend.

From reading on here seems like it's a knifes edge, GC has given me option to book a CVS. What does this entail in real terms? Has anyone had one ?

I'm just feeling v low !

@HopefulRose have they offered you further testing ? How you feeling about everything?

@candlelightsatdawn I just had a CVS yesterday. Baby had an NT measurement of 4.7mm and I was given a 1:39 risk of downs. The procedure itself wasn't too bad, there was a bit of sharp pain as the needle went in but it was over fairly quickly. I'm due to get the results Monday.

Best of luck to everyone, it's an awful time

Hi @candlelightsatdawn I am so sorry you’re going through this too, sounds like you’ve had a difficult run of things.

I’m feeling similar to how you’re describing tbh. It feels very lonely and isolating. We stupidly told everyone we were pregnant after the 12 week scan and then found out on Monday the pregnancy was high risk. Feel like I can’t enjoy it while I don’t know for certain my baby is healthy :( I called the midwife today to ask for clarity over the scan but have found them quite on the fence? I wanted to check the baby appeared healthy at this stage but all they could say was it was really tiny at the moment but everything looked as they thought it should. I asked about nasal bone but she said they weren’t looking at that. Not massively helpful for me.

How are you feeling? Are you based in the U.K.? As I understand it CVS / amnio will give you a definitive diagnosis whereas NIPT which I went for is another form of screening. CVS has to be done by 14 weeks and amnio by 16. There is a really great charity called Ark who offers non judgmental guidance on what choice to make, I can’t recommend them enough. website and helpline useful www.arc-uk.org 0207 7137486.

I’ve read lots of positive stories about babies measuring with high NTs going to be delivered safely and healthily so that’s keeping me going for now xo

@sayanythingelse kind of wish I just went straight for CVS now, given the waiting times. I was expecting the NIPT results by Monday but now it’s looking more like next week. Don’t know how I’m going to get through this weekend 😭

Wishing you the best result, will keep my fingers crossed for you! Xo

@HopefulRose I'd have more tests done for more clarification. My last pregnancy it was found my last baby had CDH. To keep my emotions out of it and I'm sure plenty will judge me - but I had a termination as I did not want the child to suffer in life, I also didn't want the risk of it dying in the birth canal or shortly after birth suffering in pain.

No one could give me answers on if the baby would survive because the lungs were squashed from other organs that moved into its chest - meaning the lungs wouldn't grow.

Whatever you decide to do will be the right decision for you and for the baby, the only thing that gets me through the termination is the fact my baby was never in any pain - if I had given birth, it would have been in pain.

I have never spoke of the diagnosis or termination to anyone - neither is there much help or others willing to speak out and support each other for Fetal anomaly terminations. I'm here if you need a chat
Xx

@Champersandchocolate thanks for sharing your experience and I’m sorry you had to go through all of that. I’m only at the beginning of this terrifying journey so I can’t begin to think how hard that must have been. No one should judge you, you did what was right for you and your baby and that’s totally understandable 💕

When did you first become aware there was a problem if you don’t mind me asking? For me it was in the scan room when the sonographer was being very quiet and not very positive. Re going for more tests, I’m tempted to book in for a private CVS but then wondering if I may as well just wait for NIPT? I also had a private scan booked tomorrow and now uncertain if I should go or not.

It’s really sad there isn’t more support and so much remains taboo on this subject. I feel like I should be able to tell my sister and best friends about this but I’m just worried they’ll worry more for me or will judge me depending on my decisions and outcome xox

@HopefulRose we didn't have much choice really. After the sonographer told us of the NT, she left the room and came back with 2 appointments written on a piece of paper - one for the CVS and one for a fetal echo scan. We were left in the bad news room for a while before speaking to a miserable doctor who told us that the NIPT wasn't a diagnosis, so I needed the CVS. We're in the North East, so I guess some trusts are more keen on it than others.

Thankfully the Consultant that we dealt with yesterday was much more positive and made us realise that 1:39 is still only about a 2% risk, so I'm trying to stay positive.

This is our second but we've struggled with infertility for years aswell, so I know how much of a kick in the teeth it is. Fingers crossed you get your results soon.

@HopefulRose I was 14 weeks, I had my 12 week scan and everything was perfect.

I wanted to see the baby again as because of Coronavirus my partner couldn't come in to the 12 week scan, so I booked a high street scan - everything seemed great, beautiful brain, all limbs etc then she checked the heart and it was moved over, all the organs had slipped through a hole in diaphragm into the chest.

I waited 2 weeks to see a Fetal Medicine Doctor who confirmed. It was a very awful time.
Xx

@sayanythingelse thank you I'm booked in for cvs on Monday and I'm a mess. Some real horror stories on here. They are also doing a echo heart scan on Monday

@HopefulRose we just got back our results 1/4 for downs and 1/110 for patues. Yes based in Uk we are going to kings hospital in London on Monday for cvs. We are on the floor devastated. Im just numb. Due to our family situation either one of those getting confirmed means we would terminate. Something I struggle with as im pro choice but due to my losses it feels like we are playing god (not that I believe in him). The judgement you receive from uttering this type of thing isn't what I expected. Here seems only safe place I have at the moment.

Mad foolish mistake of telling a friend - who's had 4 healthy children about results and she seemed hell bent on telling me that's downs isn't a bad thing and implying I was some type of murderer for considering anything else. It's messed with my head somewhat. People are entitled to their choices and im certainly make no judgments either way but being force fed info on this just makes me feel rather sick.

I suspect deep down I won't want to ttc again. I have felt so unwell with this pregnancy, my bloods were bad so that and NT of 3.8 means the odds aren't in my favour.

I'm not even sure how I will tell people. I'm already showing. I have had a look at arc but haven't had the courage to call. Still doesn't feel real. What are your results back ? Honestly I skipped the harmony test because I just want to know. And these past 48 have been horrific so I don't know how your coping in this situation.

@Champersandchocolate please note that no one on this page judges you. I very much understand your choices and will ultimately follow in your shoes if my results are confirmed 🌸

My results are back early! Clear for Downs, Edwards and Patau. We also found out we're having another little girl

@candlelightsatdawn best of luck for the CVS. Since the scan on Monday, I must have read hundreds of threads of people going through the same thing and most ended up being positive. Even people who had 1:2 for downs. Remember, 1:4 is only a 25% chance and 1:110 is even better odds. I was so so worried but I just tried to remember that I have a better chance of a positive outcome then a negative one.

@sayanythingelse I'm so pleased for you !!! Nice to read about happy news.

How long did the results to come back if you don't mind me asking ?

@candlelightsatdawn about 30 hours! I wasn't expecting the results until Monday but I got the call today. Still awaiting the full report but I can breathe a huge sigh of relief now that downs is ruled out.

@Champersandchocolate how devastating, can’t imagine how tough that must have been and heartbreaking that your partner couldn’t be there with you. How are you coping now? Wish you lots of love and positive vibes for the future xox

My results also came back early! Got a phone call this afternoon to say NIPT came back with a low result. Thank you so much to everyone for your messages and support this week. X

@HopefulRose I am so pleased for you. Make sure you allow yourself time to process what you have been through. It can sit with you for a long while.