NT results of 1 in 5. I need positive stories here please.

(100 Posts)
SaggyOldClothCatPuss Wed 11-Sep-13 14:47:22

All calm has departed.

CrispyFB Wed 11-Sep-13 15:05:18

sad I'm so sorry you're dealing with this.

What were the numbers that led to the 1 in 5? What are you planning on doing to find out more, or will you just wait? There's lots more options now than there were even six months ago.

I've spent a LOT of time lurking and posting on this forum and others last pregnancy when I was 1 in 34 (baby had typical chromosomes) as I refused invasive testing and waited it out. And there were lots of people with odds like yours, and lots of babies with typical chromosomes as a result. Hopefully a few lurkers will be along to reassure you with their specific cases shortly!

Another good forum is the babycentre one on antenatal choices.. much higher traffic than here, and it's good just to browse back through to get a feel.

Hang on to the fact there's an 80% chance all is okay.. you had worse odds to get out the first trimester from BFP after all!

Plus - have a good cry. And keep on doing it, if you haven't already.

SaggyOldClothCatPuss Wed 11-Sep-13 15:19:04

Nf measurement of 3.6.
I didn't get the exact figures, but hCG was high, the protein? measurement was normal. The midwife is going to phone me back with an appointment so I will get everything from her then.
I cannot imagine terminating. I am happy for others to choose for themselves, but its something I always believed that couldn't do. It crossed my mind when I fell PG at 21 but I just couldn't do it.
On the other hand, I cant imagine having a child with Down's.
But then, I know one or two disabled children and they are they are marvellous people. How do I make that decision of life or death over my own child?
My young unmarried mother was pressured to terminate me. Then where would I be?
DP is hiding. Cant come home from work and is playing pool this evening. I feel a bit alone.

CrispyFB Wed 11-Sep-13 16:19:25

3.6 is not great, but it's not terrible! I'm guessing your age is probably a factor as well?

The PAPP-A (which I am guessing you meant by protein) being normal is great!

Did they see the nasal bone do you know? That can really mess up statistics.

The high bHCG can be explained by things that aren't necessarily related to chromosomal abnormalities. For instance mine was above average at 1.81. I have high bHCG in early pregnancy too - apparently the two can be related.

Bleeding and IVF pregnancies can make you more likely to screen positive as well.

I am exactly like you when it comes to the prospect of a child with Down Syndrome. I don't have a bloody clue how I would cope, but also I could never (personally, no judgement on anyone else) terminate either. I read up a lot on children with Down Syndrome when I was waiting it out and got a lot of mixed messages. It seems so much depends on the "severity" it presents with. Some children are absolutely fine, can live normal lives.. but at the other end of the spectrum, may need 24/7 care. Unfortunately there is just no way to know what you're getting. A significant proportion also have heart defects (did they check the heart? although it is too early to spot everything) but most can be corrected with surgery.

I can understand your DP hiding but I wish he would come home to you sad

Did the hospital discuss next steps? If you're close to London, the Fetal Medicine Centre is the "go to" place for dealing with stuff like this as it is run by the man who invented the NT scan in the first place. I went there and they did such a detailed NT scan I felt very reassured. Obviously some abnormalities won't show up until later, but there is still an awful lot they can check for at this stage too that an NHS scan won't even consider. They also redo your bloodwork and you get results right away as they have a lab on site. It's £180 for the NT including bloodwork.

There is also Harmony, which is around £400-£650 depending on where you go. It's non-invasive, and provides as close as you can get to a diagnosis (either 1 in 2, or 1 in 10,000) as you can get without invasive testing. Sadly it's not quite yet available on the NHS, and also it takes two weeks (getting my results on Friday for this DC) Not everybody knows about Harmony as it is so new, so do bring it up with your midwife if she doesn't.

Then of course there is the CVS/amnio route. I wasn't brave enough to go down that route as I couldn't live with myself if I miscarried as a result, but most people are able to make that decision. I might have made a different one if I'd been 1 in 5, I have to say. The need to know and all that. I had a late "safe" amnio at 32 weeks last time (no Harmony then!) where the risk of preterm labour is the same as the earlier risk of loss just because I needed to know before the birth.

Very much thinking of you! I was in a right old state to put it mildly (on my own as well) when I got my odds of 1 in 34, so I can't imagine how you must be feeling.

SaggyOldClothCatPuss Wed 11-Sep-13 18:19:58

DP came home. smile
Im 38. Got an amnio booked at UCHL FMU on Thursday next week.
I had a look at the Down's Syndrome Association website. Its lovely and very reassuring.
Im sorry you are going through this too. Its really shitty. xxx

CrispyFB Wed 11-Sep-13 18:49:54

UCH are very good, you'll be in excellent hands there.. I'd pick them or Kings for getting it done on the NHS, nowhere else. Sorry you have to wait until next Thursday though, is that because it is an amnio, not CVS as amnios are done a bit later? From experience, you should get FISH results within 48 hours - mine from my late amnio were 36 hours, the nurse kindly rang at 9pm at night so as to spare me another night fretting!

Very glad your DP came home!! I guess once he'd had time to think about it he changed his mind. Mine was all dismissive at first too but then he realised how worried I was and that it was beyond a normal pregnancy anxiety so perhaps it was serious after all hmm

My 1 in 34 was last pregnancy, and yes, it was really shitty!! I wouldn't wish it on my worst enemy.

I'm due results on Friday from Harmony (had blood drawn two weeks ago) but I'm getting my NT screening at the same time so I have no odds at this point. Doesn't stop me being nervous though, even though it's not for any tangible reason just yet.. long gone is my naivety over scans like these!

Keeping everything crossed for you. I am sure this next week and a bit will be one of the slowest you've ever experienced thanks

SaggyOldClothCatPuss Wed 11-Sep-13 18:53:05

smile

TweaksCrunchyCarrot Wed 11-Sep-13 22:31:45

Mine was 1 in 3; high hcg, low papp-a but the nuchal was the key at 4.6mm.

I had an amino at 16 weeks, though I would not have terminated (DH really wanted to know either way).

It came back normal. I still can't believe it 3 years on, but my boy is now 2.5 and entirely chromosomally and developmentally normal.

SaggyOldClothCatPuss Wed 11-Sep-13 22:50:31

That is good to hear. smile

SaggyOldClothCatPuss Wed 11-Sep-13 22:50:32

That is good to hear. smile

CrispyFB Thu 12-Sep-13 10:10:57

There's a lady on here who had a 1 in 2, and a crazy high nuchal as well.. baby had typical chromosomes! I think she has a recent thread as she had yet another high nuchal this time round and all is fine again..

WipsGlitter Fri 13-Sep-13 11:14:35

Hello. I have a child with Downs, he is three now and has just started a mainstream nursery. smile

We didn't know he had downs until he was born. Big shock. Lots of terrible thoughts. But now, a little further down the line he's just our child and we love him so much. Yes, there have been appointments and tests and stuff but we are very, very lucky in that he has no additional health / heart problems at all. And yes, it takes him a bit longer to learn how to do things, but you just sort of accept that.

Please PM me if you want to talk more.

CrispyFB Fri 13-Sep-13 14:04:22

WipsGlitter - thank you for sharing. It was stories like yours that gave me the strength to continue without the invasive testing when I was waiting it out smile

Saggy - you will be "thrilled" to hear I have a success story for you. Guess who screened 1 in 5 themselves today? Yours truly. Who would have thought it.. Anyway, I can tell you that baby does not have Down Syndrome nor indeed either of the other two trisomies they test for. Well, there's a 1 in 10,000 chance but I'm kind of happy with that unsurprisingly.

My NT was 2.7mm (above 95th percentile) although she measured it at up to 3mm occasionally. She's recommended a cardiac scan later on as a precaution. The main issue for me was my bloodwork. The PAPP-A was lovely at 0.73MoM (compared to last time where it was off the charts low) and the bHCG.. yeah. 5.43MoM. No idea where that came from, although it's possible it was the bleeding I'd been having. I'll need the placenta checked as a result at 20 weeks too.

I am just thanking my lucky stars for a) Harmony and b) that I had the Harmony results BEFORE the NT screening (after what happened last time), because I think I would have passed out. I am impressed you did not, frankly.

MrsFlorrick Fri 13-Sep-13 15:10:18

Hi

Just wonder if you have any health conditions?

It can skew the results if the hospital forgets to adjust for them.

Lady in my NCT group was given a 1:3 result simply because they (UCLH) forgot to adjust the blood results for her Type 1 diabetes.

She went private the same day for tests and was given a 1:5000.

Baby was obviously fine. She was 41 by the way. I was 36 and 38 when I had my two.

It can be something as simple as that.

SaggyOldClothCatPuss Fri 13-Sep-13 21:15:37

Thank you for sharing WipsGlitter.
I have absolutely no doubt that I will love my child whatever the outcome, its the unknowns that I find are incredibly frightening.
What if there are severe health problems. What if they don't find Down's but Edward's or Patau's? What will happen when I am too old to look after my child, do they then become the responsibility of my other children? Is that fair? Its all going round and round and round in my brain.
So many selfish thoughts about a tiny baby who didn't ask to be conceived!
Crispy that's great. smile Your story definitely helps!
Mrs Florrick I have never wanted diabetes more!!

I know that there is an 80% chance of baby being fine, and whatever happens, as Wips says, I will without doubt love my baby whatever, its just the unknowns, the variables, the not knowing. Id like to go to sleep and wake up in a fortnight when the phone rings...

SaggyOldClothCatPuss Fri 13-Sep-13 21:16:02

Or to at least be able to switch off my brain! confused

BettyBottersBetterButter Fri 13-Sep-13 21:29:28

5 years ago I was in your shoes - high nuchal reading giving a risk factor of c. 1:32 with subsequent blood tests pushing it up to 1:8 (despite previous child being 1:32,000 or something absurd!) Shocked didn't come close to describe how we felt so I really can relate hmm. I went for a CVS at the FMC and was told no chromosomal abnormalities but indicators of heart defect. 4 further long weeks & 2 scans at St Thomas's put it down to possible minor heart defect but wouldn't know until birth. I had a great labour in a local birthing centre & little monkey has just started school without a single health problem.

Wingdingdong Fri 13-Sep-13 22:08:32

We were given "higher than 1 in 3, can't be more definite than that" chances of Down's based on the NT (4.6, I think - honestly it seems like a very very long time ago, but well over 4) but more worryingly less than 1% chance of survival based on assumed cystic hygroma of >9mm - or overall NT at widest of >13mm. They didn't even bother testing bloods or including age, as those would only affect the testing for Down's anyway (age would have worsened those odds and they don't officially get worse than 1 in 3!) and the cystic hygroma was even more of a problem. We did go for amnio - there was a very low risk of miscarriage due to amnio, an extremely high probability of miscarriage before the date of amnio. We needed to know if there was a genetic condition incompatible with life, not least for DC1’s sake.

DS is now a very happy, bright, sociable, healthy 18mo. The fluid totally reabsorbed over the next few months, the amino was normal, the cardiac scans all came back normal and the (many) anomaly scans were also normal.

I don't know what we'd have done if there had been a problem; I refused to think about it and luckily the ostrich in the sand approach paid off. The first most of our friends knew about the pregnancy was at around 30w when we got the all-clear. I couldn't think about the what-ifs, I couldn't allow myself to or I'd have fallen apart.

I hope it all works out fine for you. I just kept thinking that even if the chance was <1%, there was still a chance, and that's what kept me going.

DC1 was NT over 3mm and fine, we didn't bother with amnio. My niece and nephew were also both high NT measurements and perfectly healthy. I also have a couple of friends whose babies were NT >4mm and no problems, so it does make me wonder if high NT reading is more common than we realise.

Rootvegetables Wed 18-Sep-13 14:17:22

Message withdrawn at poster's request.

CrispyFB Wed 18-Sep-13 19:54:32

Good luck for your amnio tomorrow!

curlywurlyllass Wed 18-Sep-13 22:11:49

Hope amnio goes well tomorrow

SaggyOldClothCatPuss Thu 19-Sep-13 00:02:15

Thanks guys. x

CrispyFB Fri 20-Sep-13 17:02:21

When do you find out the result? Thinking of you!

SaggyOldClothCatPuss Fri 20-Sep-13 21:15:04

Hi, thanks for thinking of me. The results will be here Tuesday, or Monday if I am really 'lucky'.
I'm more than a little pissed off. The lovely people at UCHL did a CVS and not an Amnio. At exactly 15 weeks, we weren't quite ripe for an amnio. When I expressed surprise that they could do CVS as the screening midwife at my local hospital had said I was too late for this and I would have to wait 10 days for the amnio, they told me that they can do CVS at any stage and I could have been there a week ago and have results by now! angry
I am NOT amused.
In other news, the sonographer yesterday found a possible AVSD (heart defect) which raises my 1 in 5 still higherconfused
But, only time will tell...

WipsGlitter Fri 20-Sep-13 21:18:40

Holding your hand

Join the discussion

Join the discussion

Registering is free, easy, and means you can join in the discussion, get discounts, win prizes and lots more.

Register now