1 in 28 DS risk, next steps

[sunshine916]

This is my first post although I've been following antenatal clubs for a while, so a bit daunting, although not as daunting as current screening results... I'm hoping others can offer experiences. Sorry for long post.

This is my 2nd pregnancy, I'm 38, had MMC May 2016 picked up at 9 weeks, so understandably a bit nervous and relieved to make it to first official scan date. Had "12" week scan last Friday, although dates went forward so with revised dates 13+6 today. A relief to see a moving and seemingly healthy baby, although scan experience didn't end so well. Nuchal measured 3.9 which instantly flagged us for further discussion & advice that we would be phoned with combined screening results this week & definitely referred to consultant regardless of screening results (indicates risk of heart problems).

Obviously I spent a lot of the weekend researching(!) including reading lots of v helpful Mumsnet threads. Phonecall from fetal medicine unit with our full results today: 1:28 for DS. She wasn't very keen at all on sharing blood results but I wheedled them out of her as 0.5454 HCG and 1.5740 PAPPA. My research suggests that neither of these flag as concerning. So the high nuchal measurement (prob combined with age) is driving the risk factor.

I'm trying to keep hopeful given this is actually only a 3%-ish chance of DS & the number of threads I've read with high risks not leading to diagnoses even with higher nuchal measurements. Given revised dates, we only have a v small time window to try CVS if we want to skip straight to diagnostic and know for definite anytime soon. Other options are pay for private Harmony test (2 weeks for results & not diagnostic but if high risk from this would do amnio), or wait 2 weeks and do amnio.

Trying to balance risk of going directly for diagnostic tests which carry m/c risk with first doing the harmony test which will make everything take longer. Risk of m/c with cvs/amnio v off putting given miscarriage history. But not knowing for several weeks very offputting too, especially as I suffer with anxiety & the MMC triggered a v bad spell last year.

My question is this - does anyone have experience of miscarriage after CVS/amnio? I've not read any experiences of this, although appreciate people may not feel able to share this info publicly. If the baby doesn't have DS and we miscarry this would be awful & v bad for my mental health.

We're not 100% certain what we would do if DS diagnosed but we've concluded that we would like to find out. The first available appointment with consultant is Thurs and if we want try CVS would have to do it that day.

Sorry for long & detail heavy post, really appreciate any thoughts.

[zambean]

It doesn't have to be a two week wait for NIPT testing. Depending on which test you do and at which clinic, you can get results in a week. I had the Genesis Serenity test at thisismy, and the SAFE test at the Birth Company, and both got results to me in a week. I would definitely do NIPT, if you can afford it.

[zambean]

If you phone a clinic today, they will probably be able to fit you in for an appointment today or tomorrow.

[wishparry]

I didn't have the downs test myself.
my reasoning was that i'd rather bring up my baby with downs syndrome than risk harming a baby with potentially nothing wrong with it.iyswim?

[penguincrumble]

You can definitely get NIPT within a week and a quick appointment if you explain the situation.

[Mrsknackered]

With my first he had lots of red flags. His femur length was on the 3rd percentile, his head on the 98th, a high nuchal measurement.
I had found out at 18 weeks and had decided I didn't want an amnio from the start, so it was out of the question.
I ended up having growth scans every 2 weeks and numerous consultant appointments. Things like dwarfism were mentioned but I was prepared for that they really did believe this baby was Down's syndrome.
Noah was born 2 weeks late at 7lbs (they didn't think he'd reach 5lbs) and healthy. Just with a large head and little legs!
I've told you this to tell you that everything CAN still be fine.
I don't know if this will provide you with any comfort but it did for me, not long before my due date, I broke down as I wasn't sure if I was equipped too raise a child with DS.
My mum hugged me and simply said 'but Downs is understood, it's not a disease it's just a little bit different to the norm. It really could be so much worse sweetheart' and whether or not people agree with what she said, at that moment and time it really helped.
Thinking of you

[Bluebellevergreen]

wishparry how very unhelpful

[wishparry]

Sorry I just re-read it and I know sounds unhelpful,but that was not my intention at all.just wanted to give a different perspective.
sorry

[MadeForThis]

We had a 1:5 result. Our nt measurement was 4.5. Same fear of invasive testing. We decided to do the harmony test. Got an appointment same day and results were within a week.
We were happy to trust the results. Came back 1:100'000 and DD was born fine.
Did get a couple of extra heart scans but we were reassured by these that all was fine.

Why don't you call some harmony providers to ask about timescales?

ARC also have great information.

[sunshine916]

Thank you all for quick responses, I really appreciate all perspectives as we're not sure on so many things.

I'm in Bristol & both clinics I've found so far can only give appointments next week +2 wk wait for results. But I'll do more research & be more insistent on needing a quick response when I phone back & hopefully find a quicker turnaround which will lessen the wait. Heading into a midwife appt to discuss options but will fully digest all posts a bit later. Xx

[BagelDog]

SAFE test is the version that we now have a uk lab for so turnaround times quicker. Have a Google as it is offered privately in quite a few places.

[sunshine916]

Thanks for all of the tips. Just had an appointment with fetal medicine midwife who was really helpful & spent lots of time with us, gathered lots of paperwork to look through. Don't think will rush into CVS tomorrow as need time to think things through.

Phoned ARC (Antenatal Results & Choices) and they were able to advise on the clinics available where I live (Bristol), in case anyone looking for the same information finds this thread these are: St Michaels Hospital, Spire and Ultrasound Direct (Baby Bond). ARC thought Ultrasound Direct had a turnaround time of 1 week, although their website says 2 weeks, trying to get them on the phone to find out. Seems your options depend on where you live.

[sunshine916]

wishparry don't worry I didn't read it that way & we appreciate all perspectives, there is lots to think about

[sunshine916]

Thanks Bagel I am confused by all the different names though have been advised that they all do the same thing!

[JemimaMuddledUp]

I had a 1 in 30 result with DD. I was only 27 so this was very high.

I decided against an amniocentesis, this is a very personal decision that only you can make so I won't go into the ins and outs of that decision. But it was a very long wait until she was born to find out, and I had a lot of sleepless nights worrying about it.

Turns out she was the 29 and not the one, she didn't have DS.

No real advice to give other than reassurance that others have been through what you are going through. I hope you work out what to do.

[wishparry]

Thank you sunshine and good luck with your decision.x

[sunshine916]

Thanks all, not that you'd wish this on anyone else but it is reassuring to know others have been through the same.

Declined CVS and managed to book a NIPT in Swindon tomorrow morning & the results may be back in a week, fingers crossed. In the end the balance came down to that I'd worry either way about different things - with CVS miscarriage worry risk for several weeks although we would know results sooner (even though first 48h supposed to be highest miscarriage risk) vs worrying while waiting for results but at least for a procedure that carries no risk.

[MadeForThis]

Hopefully the results are in quickly. We were told a wait of up to 2 weeks but we got a phone call after a week.
On a slightly different note, if u are looking to keep the gender a surprise let them know as one of the test results can give it away.
Good luck x

[sunshine916]

Thanks it's going to be an interesting week waiting. I've been off-grid all weekend so a couple of days w/o Internet which has felt healthy although back online today & hard to keep away while sat in car on long drive.

Thanks MadeForThis, we did tick the box for Turners but not the other sex-chromosome linked ones as ARC advised lower reliability of Harmony for anything other than T13, T18, T21. Ticked Turners though as sonographer suggested link with high nuchal. Then panicked & phoned ARC but talking it through they thought the rationale behind it sounded ok & better to know about Turners risk even if amnio needed to confirm.

Decided did want to know sex anyway. May as well eliminate one uncertainty! And it is something I wondered about with previous MMC so I'd like to know whatever happens.

[BagelDog]

I hope you get a speedy turnaround time for your results. Harmony, NIPT and safe test are essentially same thing, slightly different techniques but basically trade names for the different labs hence slightly different turnaround times.

[sunshine916]

Thanks all for your comments and advice, it's been a huge help. I got the results back today so much sooner than I was expecting (Harmony test done last Friday) which is a massive relief. Fortunately the results are all low risk which is a huge weight off my mind. Still have detailed scans and heart scan to go but feel so relieved to get through this stage with good results. Thank you again all. X

[BagelDog]

Excellent news and glad you heard fairly quickly. Hope the scans all go well xx

[MadeForThis]

Really happy for you. Stay positive about the scans x

[sunshine916]

Got appointment for fetal echocardiogram (detailed heart scan) through for week after next. Will be 19 weeks. Anyone else had this & any advice on what to expect?

Anxiety levels bit lower now had low risk Harmony results but still worried in case of other problems. And fetal medicine consultant helpfully pointed out last week that private NIPT tests are still only screening tests & not diagnostic!

[Littlebelina]

We have had one (after heart issues spotted at 22week scan). It is just like a longer ultrasound (ours was done by a fetal cardiologist) and focussed on the heart. It took quite a while (45 mins) but that was partly due to our babies position. Due to her not being able to see everything clearly she also got the consultant in to confirm her findings. They went in and out of the room to discuss but warned us about this beforehand. She was largely quiet during the scan but again prewarned us about this (needed to concentrate).

They looked at blood flow through the structures at points which lights up the screen with blue and red. Also listened to babies heart beat and took measurements on this. After it was finished they took us to a separate room to discuss results.

[sunshine916]

Thanks so much Littlebelina, really helpful to get some insight into the process. We have anomaly scan later the same day (3h between the two although dif hospital 20 min drive away). So a busy day but crossing fingers for good outcomes from both.

I'm feeling relieved we have heart scan soon (consultant warned it could be anything up to 21w as they're so busy) but know that as it gets closer worry levels are going to rocket up!