High risk for Downs- can’t stop crying

[Scottishgirl646]

Hi mummies,
I had a call on Tuesday to say that my Down’s syndrome risk from second trimester screening is high risk at 1 in 14. I can’t stop crying, I can’t eat, I can’t sleep, I’m beside myself with worry. My partner and I had already decided that we would terminate if anything showed up- please no judgement, we already have a 2 year old and we believe this decision to be the best for our family. Since finding out the result from the screening, I have completely detached myself from this pregnancy. I have returned all baby things I bought, deleted all my pregnancy apps etc- it’s my way of self preservation in case we have to terminate. Due to baby being in a difficult position we weren’t dated until I was 16 weeks. I’m now 17+1. The screening midwife did tell me that screening was less reliable in the second trimester.
I’m waiting for a NIPT at the hospital on Monday, and the results will take a week. I’m absolutely beside myself and I just can’t stop crying. Is anyone else going through this too?
All I can think is that if my NIPT is positive, then I have an amino, it may mean that I am having a termination at 20 weeks and I’m having recurring nightmares about delivering a baby at that gestation. I wake up in cold sweats hyperventilating. I feel like I have been living in a nightmare since that phone-call on Tuesday. X

I'm so sorry xx

Take a deep breath. There is still a 13/14 chance that there is no Down’s syndrome present, that is a 93% chance that everything is fine. It is your decision what to do in the long term, so whilst you may be 20 weeks, that is still medically acceptable. It wouldn’t hurt your heart less to terminate at 2 weeks, 12 weeks or 20 weeks. Take the NIPT and hope for the best. Our NIPT came back in a few days, are you sure it’s a week for the results?

@Scottishgirl646 Here holding you hand. It is such a horrible thing to go through. I had a 1 in 22 risk of DS and a 1 in 9 risk of Edwards' and Patau's syndromes after my 12 week scan at the beginning of the year, so I know what you are going through. I had both the NIPT and an amniocentesis in the end. All was OK.

Please try to focus on it being a chance rather than a definite. Further investigations will give you more clarity on what you are dealing with.

Did they give you any other information at the scan that something may be wrong? If not, there is extra hope there.

Have you been on the Arc website? It is really good, plus there is a helpline if you would like to talk to someone.

Hi,

I just joined this site to comment on this thread as I’m going through almost the exact same thing. I also got a call on Tuesday to say I was high risk for Down syndrome. 1 in 98 chance. My hormone score was extremely high at 3.9 (it should be around 1) and after looking online this is crazy high. I can’t think of any other explanation for this as Iv had a scan and my dates are correct and there is only 1 baby. I went straight to the hosp that day for the NIPT blood test as they told me if I didn’t I’d have to wait an extra week. I get the results Monday. Iv barely been outside my door since Tuesday and have just gone into a state of worry and depression. Iv been online looking for clues from scan pics etc and am driving myself crazy. Not sleeping either which isn’t helping. Please keep me updated on how you are doing x

@User135792468 definitely correct with the time, they only take the bloods one day a week, a Monday, and then the results take a week. I don’t know how I’m supposed to wait a week without going out of my mind. @Mummy2OI am leaning towards having an amino whatever the NIPT says to be honest, I just need to know what’s happening. I didn’t have the NT measured as baby was in an awkward position at my 12 week scan and then so second trimester blood tests is all I had. Although I asked if the NT looked ok and she said yes. I was also told by my midwife that my first child was wrongly charted on the grow charts and was actually born on the 8th percentile and so I’m at risk of placental problems this time round which is another worry but I don’t know if this could have influenced the blood results?
@Worriedmum300 I’m so sorry you are going through this too, I’m praying for you that you get a good result. I can’t sleep either, it’s the not knowing that’s killing me. I keep thinking maybe I should have gone for an amino straight away as the rapid results only take 48 hours, as opposed to waiting a whole week from the blood test. I’ve tried googling to see if I can pay for the test to have quicker results but I can’t find anywhere that is possible. Have you thought about what you would do if there was a problem? Sending hugs x

My 12-week scan showed a 4.5mm NT, which is above normal. The blood test came back with high risk for Edward's and Patau's, 1:7 for both. I had an amniocentesis yesterday and I'm now waiting for the call with the results.
I had a private scan on Saturday and the sonographer said that everything looks fine (head circumference, femur size, everything was as expected). Babies with Edward's and Patau's usually have crooked limbs, but our baby's hands/arms and legs/feet look normal.
We are still waiting for the results, of course, but we are much more calm and optimistic since this scan.
My advice: try not to make "plans" for now. Don't think about termination yet, there's a high probability of your baby being fine (13 in 14).
At this point, the NIPT would not give a definitive answer, only probabilities/percentages. If there is a medical indication, do an amniocentesis, as this test tells you if there is really a problem with the baby.
I'm rooting for everything to go well! Try to calm down, because the baby can feel everything you feel. There are still many chances that everything is fine!

Hi @Scottishgirl464
I just wanted to reply as I've just been through this recently. Like you I ended up quite late in my pregnancy getting answers due to delayed and then inconclusive NIPT test results. I completely detached from the pregnancy too as we would also have terminated. I had the amnio and although it was an awful experience I got the result in days and it was 100%reliable.
I just wanted you to know that the NHS only offer induction for termination at that stage which I felt like you about. I couldn't face it, but BPAS so offer the medical management D and C type operations, after 16 weeks its under general anesthetic. This is what I would have gone with if amnio had shown an issue. I didn't get as far as looking at pricing (although we would have just paid it) but I know that lots of them are subsidised and so on so it may be worth you making contact with your nearest clinic.
It is a horrendous time so I really feel for you and hope you have good support around. And for all you ladies also going through the same.

[quote Scottishgirl646]**@User135792468* definitely correct with the time, they only take the bloods one day a week, a Monday, and then the results take a week. I don’t know how I’m supposed to wait a week without going out of my mind. @Mummy2OI* am leaning towards having an amino whatever the NIPT says to be honest, I just need to know what’s happening. I didn’t have the NT measured as baby was in an awkward position at my 12 week scan and then so second trimester blood tests is all I had. Although I asked if the NT looked ok and she said yes. I was also told by my midwife that my first child was wrongly charted on the grow charts and was actually born on the 8th percentile and so I’m at risk of placental problems this time round which is another worry but I don’t know if this could have influenced the blood results?
@Worriedmum300 I’m so sorry you are going through this too, I’m praying for you that you get a good result. I can’t sleep either, it’s the not knowing that’s killing me. I keep thinking maybe I should have gone for an amino straight away as the rapid results only take 48 hours, as opposed to waiting a whole week from the blood test. I’ve tried googling to see if I can pay for the test to have quicker results but I can’t find anywhere that is possible. Have you thought about what you would do if there was a problem? Sending hugs x[/quote]
I had a very high risk score, opted for amino as I needed to know for certain. I also disassociated myself from the pregnancy, and now people still comment how matter of fact I sounded at the time.
Result was negative. Sending hugs x

Screening high risk for Down's syndrome is what first brought me to Mumsnet.

It was flagged up due to blood results in both my pregnancies (only 29 so not age related) one was 1:80 and one 1:9. NIPT was only available privately so I opted for CVS both times. I did volunteer for a NIPT trial so they did the test on me but I wasn't able to see the results, I just wanted to help other woman in the future.

Both CVS tests came back completely clear and I have two children now.

I have been in the same situation, it might be worth reading the Antenatal results and Choices (ARC ) website as they have lots of good information.
www.arc-uk.org/

I really hope it works out and you get some clarity soon.

@Scottishgirl646 I am also praying for you. It’s an awful time. Myself and my partner had also already discussed what we would do in this situation and we would not be going ahead with the pregnancy. So everything depends on the results on Monday. We are terrified but trying to stay positive. At your NIPT test the woman asks if you have any questions etc and they are really nice. We asked about going private and all private tests are sent to London and take 7-10 days usually but she said they’re testing lab isn’t open at the moment due to a problem and they are having to send bloods to America which is resulting in a longer wait. All bloods from Scottish NHS hospitals are sent to Dundee and come back in a Monday so I think that is your quickest way. Unless you opt for amnio. Also try not to worry. I suspect your 1 in 14 chance will be something to do with no recorded result from the NT at scan. You should write down any questions for Monday as the weeks wait is def the worst part xx
@mamamalt thank you xx

Thinking of you Would you considered just going straight for the amnio as obviously the NIPT is just a percentage chance and not 100% conclusive. It may save you some time.

I had this after a nuchal scan with my last, years ago. The consultant reamed off a number of other risks of around the same level eg the risk of x small town winning the FA cup. It made me feel the risk was lower, somehow. I hope that helps, a tiny bit. By the way, my child was fine.

Hi Lovely,

I am in a very similar position; our baby has a 1:22 chance of Downs & 1:43 chance of Edwards/Patau’s. like yourself I feel complete detached from the baby.

I had a NIPT test done on 6th as wanted to get a second opinion before having the amniocentesis done. Unfortunately, due to an issue with the London lab i had to have a retest done on the 14th & sent to America so still waiting on the results. its been the longest/worst 2/3 weeks of my life. I have an amniocentesis provisionally booked for this Friday but like yourself feel I am go ahead regardless as need some definite peace of mind.
Have you asked what’s flagged you high risk? For me it was my Papp-a levels where very low so have started taking aspirin which has made me feel slightly better as feel I am doing something positive.
I have everything crossed for you!

@Han2654 I completely understand what you are going through and I agree that only the amnio would give you some peace of mind. Not even the CVS is 100% definite, as it takes cells from the placenta (so the Mum) and not from the amniotic liquid (from the baby).
I had my amnio last Thursday, so I'm now waiting for "that call", which will probably happen tomorrow.
Fingers crossed for you, hun!

Did you do a NIPT as well or go straight for an amnio?
At first I didn't want the risk, but after nearly a 3 week wait for the NIPT results I just want some certainty

& you. Crossing everything its a good news call!

Hi ladies, I wanted to come and comment as I can see that some of you are going through what I have just gone through myself and I hope I might be of some help. I really appreciated these threads about six weeks ago when everything started!! I have not had my baby yet so I can't say that everything is fine but I am hoping that just being a few weeks ahead of you all might help if I share my experience...

At my 12 week scan, my NT was measuring 3.5mm so right at the bottom end of high, but still high enough to be flagged as a concern. My bloods came back as fine but we paid for the NIPT for some peace of mind, which luckily it did provide for us (initially anyway). Having a follow up appointment with the Fetal Medicine Unit at the hospital then made us more concerned again to be honest, the care I have received has been excellent but I do feel that the specialists are very quick to tell you about the worst case scenario, even if the odds are looking fairly low. I do understand why - as one of them said, they have to let you know all of the potential outcomes as some people may not want any risk of a baby with potential illnesses/chromosome issues and may choose to terminate earlier. We didn't want to do this and chose to also have the amnio. We found that this was more reassuring than the NIPT as it is more definitive (but does not rule out all genetic conditions). I finally had a very detailed 20 week scan last week which has shown that I have been very lucky - other than the initial high measurement, everything is looking OK. As I mentioned earlier, the specialist in FMU did point out again last week to us that there is still a slightly higher chance of a genetic disorder than a baby whose NT has measured normal at the 12 weeks scan, but looking at most of the comments on this thread it seems to be blood work that has caused these higher chances so hopefully that might not be the case for any of you.

I have found the best way that I could cope was by just trying to take one test at a time - so for me it was NIPT was OK, then get through the amnio, then wait for the first set of results, and so on. If you have been referred to a screening midwife, I hope they have been of use - the midwife I have been under has been an angel and has offered me extra appointments where she has checked baby with a doppler etc, as I think she could sense how anxious I was. Do talk to them if you need to. Also I am not any kind of expert but if I can be of use to chat to then please feel free to PM me as I do feel that I know what you are all going through and I am so sorry that you are going through it. Hoping for positive outcomes for you all xx

This happened to me 2 years ago.

From the NHS test DD had a 1 in 17 chance of having DS. Like you I had discussed with DH what we would do before the pregnancy so I was faced with the possibility of terminating. It felt so unfair. I detached from the pregnancy and convinced myself she did have DS.

The NIPT came as 1 in 50,000 for DS and DD is now a happy healthy 19 month old.

Sending lots of positive thoughts. Good luck.

@Han2654 After the 12-week scan, I was referred to the Fetal Medicine Unit, which tried to do a CVS. We couldn't go through due to the position of my placenta, so we waited a couple of weeks for the amnio.

The doctor from the FMU didn't recommend the NIPT at this point, because I would only spend (a lot of) money for only getting percentages/probabilities. So, considering that I was already willing to have the amnio, we skipped the NIPT.

Thank you! :)

Hi, Just a positive update. I have had my results today. My NIPT has came back as low risk. We are not going to bother with the amnio as we are happy enough with the low risk from the baby’s dna. Please update us how you get on @Scottishgirl646. Sending you lots of love and positive thoughts xx

@Scottishgirl646 sorry you’re going through this. I had 1:36 chance of downs due to a high NT. I had the NIPT at 14 weeks and if it had come back high risk, would have had an amnio at 17 weeks. I was told (as it was a twin pregnancy) that selective reduction would have to wait till 32 weeks, so I can understand your fear of delivering at 20 weeks.
As others have said PLEASE try to relax, you have a 13/14 chance of everything being fine. Take some of the positive stories here as hope. Did they do a detailed anatomy scan/ find anything abnormal? My consultant did this and saw nothing abnormal so advised the nipt. She said if there was anything obvious it would have been an amnio straight away.
Btw ds is now 13 months and totally healthy. Good luck!

@Worriedmum300rr Amazing news, so happy for you.

My 2nd NIPT test was also sent to america, after the London lab couldn't process the first. Can I ask when you had it done & who with. The wait is killing me!

Had my last one done on Friday 14th & on edge everytime my phone goes.

Hello everyone, sorry I have been inactive on here I just needed a few days to sort my head out to be honest.
So I met the screening midwife on Monday and I had the NIPT test taken. I should get the results on Monday, although I have only just realised that it a bank holiday on Monday so I’m now thinking that is less likely. I’m in Scotland and so my bloods have gone to Dundee.
Thank you for all of your positive stories, they are a comfort however I’m trying my best not to get my hopes up (self preservation again). @mamamalt thank you for the information about BPAS, you have no idea how much comfort this has brought me knowing that I could have a surgical termination. I do not think I could mentally survive delivering a dead baby at this gestation. I have looked at the website and have a plan in place should it be needed.
@Worriedmum300 I’m so pleased you got happy news!!
@Han2654 have you heard back from your results yet?
Does anyone know if the bloods come back low risk, do you automatically get a more in detail 20 weeks scan? Or a fetal medicine federal? I haven’t been told much about what happens going forward- the screening midwife is fab but I said I just wanted to go home and wait for my results and so I didn’t ask any questions etc. At the minute, I want the amino either way. I’m starting to feel kicks now (18 weeks tomorrow) and I feel so detached from it all. I sound so heartless I know but right now I have no love for this baby. I can’t. I can’t think about this baby being a baby as I know that if I get positive results then I know what I’m going to do and so I cannot allow myself to love this baby. I live in a small place and people keep asking me about my “bump”, we only Announced at 15/16 weeks and so I’m being congratulated daily and I can’t even muster a smile. Thankfully I’m still really sick and so I can blame my lack of enthusiasm on vomiting several times a day, but I feel so heartless and empty and yet if I allow myself to become attached to this baby and the results are bad I don’t know how I’m supposed to cope. I keep crying, my daughter is only young and I can tell she senses somethings wrong with her mummy. My darling dog won’t leave my side, she can feel my sadness. My partner has been great, he is my rock but at the end of the day he isn’t the one carrying the baby and so he doesn’t have to deal with the hormones etc as well. He thinks if the NIPT is low risk that we should skip the amino but I think I need to have it and he will support me whatever I decide.
I still can’t quite believe this is all happening, I suppose you always just assume that everything will be ok. I’m just trying to focus on the fact that no matter what my daughter is perfect and I am beyond lucky to have her. She has been a brilliant distraction since that first phone call.

@Scottishgirl646 Sadly not, still waiting … day 20 today. Should hear by Friday at the latest, going to give them a call today but not hopeful.
I can complete relate to how you are feeling, I am nearly 17 weeks & just getting the start of a bump (luckily not visible to others as can’t really talk about things at the moment) which should be so exciting especially being by first baby. I also feel completely disconnect; we haven’t made a decision about what we will do if we don’t get the results we are desperately hoping for yet. My husband is a true optimist & doesn’t want to think about the worst case which I understand but I find it hard as I am struggling & feel he can’t truly relate as I am carrying this baby & have to go through this physically not just mentally.
I have been told I will have growth scans at 28/32/36 weeks, if any issues then I will be offered more frequent scans. But think this is due to me having low Papp-a as apposed to the high risk of down/Edwards/pautas. I am going to have a private more thorough anatomy scan at 19 weeks for my own peace of mind ahead of the NHS scan.
I struggle to believe it as well, feel we were so naïve going into the 12 week screening, we didn’t even know what they were testing/looking for. Being 28 and having no health issues/family health issue I just assumed everything would be fine.
I have everything crossed for you; I find keeping myself busy is the only thing that helps. Only positive is my whole house and been organised & it spotless ha …

I've already read that people get the results from their amnios after 3 business days, but it didn't happen with me.
4 days and counting...
This waiting is making me crazy!

@Scottishgirl646 As far as I know, if your NIPT comes back with low risk, you shouldn't be referred to the Fetal Medicine Unit. In my case, I was referred to FMU right after my 12-week scan showed a thick NT of 4.5mm, so I went straight to FMU before even thinking about NIPT. So I ended up not getting one, because we scheduled an amnio.
Everyone has the 20-week anomaly scan, it's a normal scan offered by NHS, you don't need a recommendation for that.