Increased Risk Downs Syndrome

[futuremummy123]

Hi everyone,

I’ve had the phone call from the hospital to say we’re at an increased risk (1 in 24) for Down’s syndrome. I’m honestly beside myself.

I’m only 23 so my age risk was 1 in 1400… I know 1 in 24 is still statistically low but the comparison between the numbers are scary.

my results were (I’m 13.5 weeks)

NF 2.5mm
HCG 3.2
PAPP 0.34

I’m going for the NIPT tomorrow morning but I just know waiting is going to be scary: I just feel like my whole world has come crashing down.

Hi @futuremummy123 - sending you a big hug, it’s a horrible and scary experience to be told something might be wrong. Don’t know if it helps but I had a 1 in 29 chance with my son 3 years ago - had nipt and all was fine, came back low chance and he doesn’t have Downs. It seems fairly common to have a higher chance result but for it all to come to nothing. 1 in 24 isn’t very high if you convert it to percentages. I’m pregnant again and actually had a 1 in 2 chance of Down syndrome this time…NiPT came back lower chance again!! I haven’t had my baby yet so no idea if it’s right but so far, no indicators of anything wrong on scans…

I’m not sure what your feelings are about raising a child with Down syndrome in the fairly unlikely event you are the 1 in 24 but I found the PADS Great Expectations group on Facebook really supportive and helpful - it’s for women with a higher chance result or a prenatal diagnosis. It’s run by parents of children with Down syndrome so maybe a bit biased but I didn’t find it anti choice at all - for me it was a bit of an eye opener and a chance to speak to parents about what life is really like and connect with other women in the same boat. It actually took away a lot of the fear for me personally about the idea of having a child with Downs and I felt less overwhelmed with the 1 in 2 chance this time than I did 3 years ago with 1 in 29! Obviously this is very personal and everyone has different feelings about proceeding or not with a pregnancy with Down syndrome so if it is definitely not on the table for you, feel free to ignore this tip.

I can also recommend ARC (Antenatal Results and Choices) helpline - a charity who specialise in supporting parents with higher chance results and choices to make regarding further testing. They really know their stuff and are just lovely and will listen to you. The lady helped me make sense of my results and counselled me with my next move. They are really good.

Thinking of you, it really is the most stressful time when it should be happy and exciting - you are not alone though.

@Bloodystressed1 thank you so much for your reassurance!! I’m so pleased to hear about your positive news on both accounts, it’s so strange how these things happen to some women (for in your case at least) no reason whatsoever. I have honestly spent HOURS trawling forums and reading others experiences and they do give me a bit of hope. I had my NIPT bloods this morning, I’m honestly the most needle phobic person in the world so it was incredibly difficult, but I did it! Now the agonising wait to find out. I will make sure to post an update whenever I hear any news.

I hope everything is going well for you🤍

Hi, just thought I would share my experience. I have 4 children already, my eldest being 20! I am having a surprise pregnancy at 42 years old. We were given the NHS screening test which came back at 1:18 and NF was 2.99 mm.

I refused amnio due to risk of miscarriage and opted for NIPT instead Came back as high risk. I have researched and researched and researched and accepted baby will have DS. We are under care of fetal medicine and baby is doing fabulous. Currently 30 weeks. I experienced fear, anxiety, cried lots etc at first but have now accepted it and am actually excited. She is just a baby at the end of the day and will just be a different journey with this one. I am determined to make it work and for her to have a full and happy life xxx

@yarnmum oh wow congratulations on your baby! So lovely to hear how you’ve been through everything but now able to be excited and look forward to your arrival! I’m so pleased it’s all going to work for you and family!! The best of luck, you will definitely give her an amazing life! Xxx

Thank you! Dont get me wrong, it has not been an easy ride... but time has been a blessing to get my head around things. Just want her here now safe and sound xxx

Hey everyone!

1 week later and I’m back with an update. NIPT results Low risk so we are in the clear!! I’m honestly so grateful and thankful.

I wanted to update this for any future mummy’s to be who find themselves in the same boat as I was, it’s terrifying.

With future pregnancies I will absolutely be paying to have the NIPT privately at 10 weeks and completely skipping the 12 week NHS screening, this was the worst week of my life.

Can finally can excited about our baby!!!

@futuremummy123 I am in your boat just now :( I’m so pleased to read your results have come back the way they have! I have 1:86 risk and had NIPT bloods done on Monday and they said not to expect a call till probably Tuesday!! The wait is killing me! I don’t suppose they ever told you what brought your risk to that figure from the screening? My screening was also done at 13+5 weeks, NT 2.5, hcg 2.06 and papp-a 0.31! It’s such a stressfull thing to go through!

Hey lovely! Oh bless you, I totally know how you’re feeling it really is such a long wait!! So I believe it was purely a combination of my PAPP-A and HCG combined which caused the increased risk as my NT (much like yours) was totally within normal range. I had no other risk factors either so it really was a huge shock. Whatever happens please know if you need someone to talk to I’ll always be here!!

After we got our results due to my low PAPP-A I was put on daily aspirin and had regular growth scans (I’m at the hospital every other day now at 29 weeks!) so you can trust you’ll be well monitored!!

I will keep everything crossed for you and hope your positive news comes quickly!!

@futuremummy123 Thank you so much for your response! Yeah I’m thinking the same with regards to combination of thise results pulled together as I was the same no other indicators at all. The midwife was really happy with scan and measurements etc! They have mentioned extra growth scans which will be good for reassurance throughout. It was a real shock for us too, I wasn’t even fully set on getting the screening done in the first place but just assumed all would be fine, probably the worst thing I could of done as my heart sank getting the call. Thank you so much that is so kind of you, it’s really nice to speak with someone around my age who has been through the same. I will be sure to pop back on when my results come through! x

Hey lovely! Do you have any updates? I have been thinking of you!!! X

@futuremummy123 Unfortunately not good news. NIPT bloods came back high chance on Monday this week, I went for an amnio diagnostic test on Tuesday, they called us on Wednesday to confirm diagnosis of Down Syndrome :( Our world turned upside down. We went to meet the consultants and doctors that afternoon and after a very uneasy, extremely difficult decision, we all came to the agreement that we could not continue with the pregnancy. At 25 years old (my partner 27), us and the medical team are all very surprised at just how unlucky we have been. I was in hospital on Friday for a medical misscarriage. It’s been a horrific week for us as you’ll can imagine! The misscarriage happened within 3 and a half hours and we had a baby girl. We spent a little time with her and got her teensy hand and foot prints, and are home with a lovely SIMBA memory box. We are truly and utterly heartbroken! If I’ve learned anything though, it’s that i’m a hell of a lot stronger than I thought I was! Fingers crossed, hoping and praying our time will come! x

Oh bless you! I can’t even imagine the feelings you’ve experienced over the last few days! I totally get what you mean about realising how strong you are. Your time will come! I’m so pleased you got to spend a little precious time with your sweet girl 🤍

I think if there’s one thing pregnancy has taught me it’s that age really means nothing, being so young I really thought (just like you I’m sure!!) it would be a breeze but wow have I been wrong. I’m now 30 weeks and been told I’ll be delivering in the next 2 weeks due to preeclampsia, placental insuffiency and static growth.. a whirlwind!

Sending you and your partner so much love and support lovely X

I’m glad I found this thread, I’m now just going through my screening. My results are high risk 1:17 NT measured at 3.4, hcg 0.83 and papp-a 0.64. Currently waiting on my NIPT results (had the test this morning, told it will take a week.

I’ve never had such sickly stress in my life, and just praying it comes in low risk.

my heart goes to everyone who is going through this or has been through it, I’m currently trying to work and just finding it impossible.

I will keep thinking of you lovely. It truly is one of the hardest things to go through. If you need to chat I’m always here.

I ended up delivering my little one by c-section at 30 weeks last month, she’s now 41 days and still in the NICU.

Keeping everything crossed for quick and positive results for you 🤍