1 in 5 chance of Down’s

[HazyDays81]

Last week I received a phone call to say from the combined test I have a 1 in 5 chance of my baby having Down’s. I’m 41 so I know age must have increased the risk. The nuchal measurement at the scan was 2.3 and everything was normal. They didn’t tell me what my bloods were. I was expecting a high risk due to age but it was a shock to hear my risk is 1 in 5.

I wasn’t keen on any invasive testing so I had the NIPT last Friday and now waiting for the results but it’s constantly on my mind despite trying to keep busy.

It’s reassuring to read on here that the combined test isn’t particularly accurate and I’m just really hoping the NIPT result will give me reassurance.

💐

you don’t have to do anything right now. Take time to make the right decision for you, I’m sorry it wasn’t the outcome you wanted x

Handhold OP, take some time to think, and discuss with your DP, no rush to make any decisions, you have options. Thinking of you.

I'm so sorry you didn't get better results. We are here for a hand hold. Thinking of you.

I was in this exact situation at the end of May, somewhat unexpectedly pregnant at the age of 45 and high risk screening results from the 12 week scan followed. My screening risk for DS came back as >1:2 and was something like 1:65 for Edwards and Patau. We were referred to fetal medicine at Leeds General Infirmary who did another scan and performed a CVS, the CVS confirmed a diagnosis of down syndrome. This was a much wanted baby for us, and followed several miscarriages, but with 2 older primary school aged children to consider, I felt the best decision for our collective family unit was to end the pregnancy. It was heartbreaking couple of weeks from that first scan, but almost 2 months on I'm still happy we made the right decision for us. In your situation I would reach out (if you haven't already) to the charity ARC and arm yourself with as much information as possible to guide your decision making.
Also I would add the latest stats indicate the risk from CVS and/or amino is much lower than the often touted 1%, and whilst it definitely wasn't a fun experience, I would have no hesitation in doing it again, it gave us a concrete diagnosis. Happy to chat further if it helps. Thinking of you x

Thank you @Wouldloveanother @Roselilly36 & @Blixem for the hand hold and kind words, I really needed that. I spent a few days feeling so down and emotional. Looked up so much stuff online but still unsure what to do. I have an amnio booked this Monday.

@TeamGeriatric thanks for your message, I’m sorry you had to go through this too. This is also a much wanted baby. I’m already lucky to have 3 lovely boys (age 11, 8 & 4). My eldest is autistic and youngest has some learning delays. I’m just not sure we’d be able to cope as a family with a child with DS too especially if it was severe. I did speak to ARC which I found really helpful. My husband has already said if we choose to end the pregnancy (I feel like he’s leaning towards this) he doesn’t want to try again which I’m also finding really hard x

Hey. I'm sorry you're in this position @HazyDays81 . How did your amnio go?

In June this year I opted to end my very much wanted pregnancy after we found out our daughter had down syndrome (and a host of related health problems that would have likely been fatal on their own).

We opted for a CVS (I skipped the NIPT entirely) and it was OK all things considered. Prior to the CVS the fetal consultant scanned me and gave me lots more information about baby (she had a heart defect and hydrops) which reinforced our decision to end the pregnancy when the CVS came back positive. The scan pre-CVS was the most useful thing that we did and really gave us lots of information to enable us to make a decision that, whilst exceptionally hard, was absolutely the right one for us and one that I do not regret. Did you get a similar scan on Monday?

You are in a place that I have been in and fervently wish no-one else ever has to be in and I hope that you're as OK as you can be.

i just came on here to say that the postiive isn't just if your baby doesnt' have downs. When your baby is born, you will love them either way. They are your baby. Please try and talk to people who have had baby with downs, or who will not reinforce the idea that this is a negative outcome. your baby will be fine, either way, and you will love them, whatever.

@bbnotwo I’m sorry to hear you’ve been through this too - it is such a horrendous time, I wouldn’t wish it on anyone. It has felt like a long wait between finding out I’m high risk and having the amnio and now waiting for those results. It’s constantly on my mind.

If you don’t mind me asking how many weeks were you when you ended the pregnancy?

The consultant did do a scan before the amnio and she didn’t pick up any issues which was reassuring though she said some markers don’t show up this early. The nuchal measurement was also normal. Seeing the baby on the scan it looks perfect. She did say as she NIPT came back higher chance it’s very unlikely to be wrong and the amnio will probably confirm it.

@HazyDays81 I was 13+5 weeks when the screening results came back at a 1:2 chance, had the CVS at 14+1 (decided to not wait it out for the amnio as that couldn't be done till a week later and I was keen to find out ASAP), and then my pregnancy ended at 15+4 weeks.

I had had my 12w scan at 12+1 and due to the jubilee it took them a little while to get back to me with the results.

Hi I'm going through this at the moment too - I'm 12+3 and had the NIPT today. My risk is 1:6 i feel completely emotionally drained it's horrible. Feel free to message me if you need a chat / cry. The wait for the results is going to be the longest two weeks of my life.

I hope your doing ok (ish) xxx

Hi, unfortunately the amnio confirmed the baby has Down’s. I’m heartbroken. I was clinging onto the very small chance the NIPT test was wrong but it wasn’t meant to be.

@alotoftutus so sorry to hear you are going through the wait for results, it really is agonising. I found keeping busy helped as it gave me less time to think about it. Are you in the UK? My NIPT results through the NHS were fairly quick within 4 working days. Thinking of you x

Op I’m sorry you didn’t get the news you wanted. Look after yourself, no rush to make a decision, it just matters that it’s the right one for you. Sending love.

@HazyDays81 I'm so sorry you didn't get the result you were hoping for.

Do you have support moving forward? Be it for raising a child with downs or ending the pregnancy?

Sending you all my love and strength. Feel free to message me if you need an un judgemental ear.

Whatever you decide to do next won't be easy so be kind to yourself right now. Xxxzz

@HazyDays81 im so sorry you have this worry but I just wanted to hop on and say that having a child with Downs isn’t the end of the world. There is so much help out there now and the life expectancy of a person with Downs is now 65. Most children with downs can go to a mainstream school, too. There are many disabilities that you can’t screen for. I guess all I’m saying is that the outlook for people with downs is much better than ever.

I feel heartbroken for you. I went through the agonising wait for results and scans so I can only imagine how you may feel. Best of luck for you in the future x

So heartbroken for you. Would definitely recommend getting in touch with a charity and speaking to other parents who have children with DS. I work with adults and children with DS and the majority are healthy individuals and some lead relatively normal lives and have jobs etc.

Sorry to read your latest update, I know it wasn't what you were hoping for. I also hope you have all the support you need with your decision moving forward. More than 3 months on and we are still waiting for the results on the genetics testing they did for us, though I don't think we would try again anyway.

Thank you all. I’m lucky to have plenty of support around me. Just a very difficult decision to make. Thanks for all your kind words xx

@HazyDays81 how are you?