# Told 1 in 13 High risk after nuchal screenings



## ceebs2013

Hi there,

The happiest time of our life has suddenly turned into the most stressful and upsetting time :( We went for our 12 week scan on Thursday. The sonographer had real trouble getting a good position of the baby - for most of it the baby was sat bolt upright or wiggling around. She tried for a good 20 minutes before then deciding to do an internal scan. She then tried one last transabdominal scan before telling us she had some bad news. 

She said the thickness on the back of the babys neck was much higher than it should be (7.2mm) and this could either be a sign of chromosomal abnormalities (downs etc) or a cystic hygroma. However, she said she couldn't be sure of which because of the position. She calculated our risk as being 1 in 13. 

She was lovely but made it all sound so final and like that was as far as it was going. We came out absolutely devastated thinking it was all over. She phoned to tell us we will need to see a consultant on Monday so he can scan me again to see which of the 2 it is and then I can decide if I want a CVS or not. 

We have spent the past 2 days on the Internet researching this and have seen so many wonderful stories of people being told the same thing with even less odds than us and their babies still being ok. I feel like we are getting our hopes up only to be dashed again on Monday. 

Has anyone else out there had any experiences like this - good or bad? Also can anyone tell me what the CVS is like - I am absolutely terrified of needles and so the whole thing sounds horrendous to me but something I feel I will have to do. Any experiences or advice would be much appreciated xx


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## pip2009

Hi,

Sorry you are going through this, its such a worrying time. We had a similar experience with a high NT measurement and combined with my bloods gave us a 1:12 risk of DS and 1:58 of Edwards or Pataus. Unfortunately for us it turned out that our little girl had Edwards syndrome :( but I have heard plenty of stories where high NT measurements have corrected themselves and baby is healthy so try to stay positive.

I had a CVS and it wasn't the nicest of experiences but it was ok and over in a matter of minutes. They give you a local anaesthetic first to numb the area and then they insert the needle to collect the sample. I had quite a bit of cramping for about a hour afterwards but apart from it being a bit tender where the needle went in I was fine.

There is a really good forum on babycentre called Antenatal Scans & Tests and on there you will find lots of support and stories from others going through similar experiences. Also the charity ARC is brilliant and will be able to talk you through all the options about further testing etc.

Big hugs, its an awful time of waiting and not knowing but hang in there and I hope you get good news soon xxx


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## Miss Bellum

I am so sorry to hear you are going through this. I can sympathise, it is hard when it all seems to be going well and then you get this news :hugs:

We were told we had a high risk which was calculated at 1 in 41. Was very confused and scared for a few days.

After a further talk with the midwife, and looking at the stories from people in a similar position, we decided against any further testing. As far as we are concerned, the odds of a having a healthy baby are high enough that we don't want to take the risk of harming bean by doing the invasive tests. Also, as far as we were concerned, what ever the test showed, we would still keep the baby so why risk it? 

But I can fully understand why you might feel you need the certainty of CVS. 

Its a very tough decision and very personal so I wish you all the very best for what ever you decide to do :hugs:


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## ceebs2013

Thank you so much for your replies and so sorry pip2009 to hear that your little girl had Edwards :( it really is such a tough time to go through and I think the uncertainty of it all is the worst. At least if we had the CVS we would know for sure one way or another and could prepare ourselves with whatever we will have to come. I have however got massive doubts over the risk of mc with the CVS. It's just hard to know what to do for the best.

I keep thinking I just have to get through the next couple of days and then hopefully we will know a bit more once we see the consultant but it's so hard to stop thinking about it. I don't want to get my hopes up by reading all these stories that have turned out well but at the same time I feel I need the reassurance that it COULD be ok.

Thanks again for your replies ladies xx


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## pip2009

I remember the awful waiting part well so i really sympathise with you, its the not knowing that is the worst. Just to say that you don't have to have the cvs if you are worried about it, you can opt to have the amnio at 16 weeks instead as it is supposed to have a slightly lower risk of miscarriage. For us, the fact that the risk of us having a baby who had serious chromasomal abnormalities was higher than the risk of cvs causing a miscarriage was enough for us to opt for the cvs as we felt we needed to know sooner rather than later but its a very personal decision. Our consultant also told us that the 1% who do miscarry are usually the ones who miscarry naturally anyway because of the condition that the baby had.

I hope you get some better news in the next few days but please get in contact if there is anything else you have questions about which I might be able to help you with.

Sending big hugs xxx


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## Emma867

Hi there, we have just gone through the very same experience. From sheer exhilaration of that first scan to plummeting down to earth with a bang thanks to high NT reading and bloods. We were gave a 1:8 risk.

Opted to have the CVS and yes it is uncomfortable as the other poster said but you can get through it. We were initially advised that the results would take 2-3 days for the downs screening and 10-14 for the full chromosomal results. Turned out, there wasn't enough cells to do the quick screen and we had to wait a painful 16 days all in all.

We finally got our results last Friday.

All clear! No chromosomal problems at all.

All I can say is take each day as it comes. It's hard to remain positive because I sure didn't feel positive but I hope and pray all turns out well for you too.

One more thing, the CVS carries a 2-3% risk of miscarriage and the Amnio is 1%.


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## Leesy

I had a CVS too due to my bloods putting us at 1:29 for downs. It was uncomfortable but quite painless and over very quickly. For me, I had to know. We based our decision on down syndrome chance being 1:29 and miscarriage chance being 1:100. I got the result back just under 1 week later and everything was fine. I'm sorry you have to go through this. xx


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## BrightLights

Hello! At our 12 week scan 3 weeks ago we got told our baby had a nuchal measurement of 8mm! I was devastated having had a difficult pregnancy with my daughter I was hoping for less worry for this one! I had a CVS and all went fine and results came back absolutely fine no syndromes detected, I also found out we are having a boy from those results! Baby still at risk of being unhealthy but docs are happy with results so are leaving us until 16 weeks when we will have early anomaly scan and a check on the heart sounds and heart structure as high NT can be due to problems with the heart.

I have everything crossed for you that things will be ok! I totally understand how scary and horrible it is!

X


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## ceebs2013

Wow thanks everybody, it really does give a little hope to hear everyone's stories and it seems that more turn out well than not. I think I am more worried that it may be the cystic hygroma, that's what the sonographer seemed more concerned about...but then after reading on the internet about things such as turners, edwards etc which I had never heard of before it just terrifies me about all the things it could be! 
I think I almost worry more about the hygroma because so many of them end in miscarriage and if it doesn't then our poor baby may need operations if it was that bad.
But your stories have certainly given me more hope today so thank you all. We need to wait by the phone today to be told what time to go and see the consultant later. We are hoping, even if the results are no better than last time, that we will at least have a few more answers and information as the sonographer really didn't tell us very much at all. I am hoping they may do the CVS today so we can hopefully have the results by the end of the week. How can such an exciting time so quickly turn into the most horrible time of your life?? I keep thinking how we should have been telling friends and family yesterday and today and now we don't even know whether we are having it or not :(
I will update later once we hopefully have more of an idea of what is happening, thanks again all xx


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## Emma867

Fingers crossed for you ceebs.

We feel robbed of that special time you should experience at the first scan. We were whisked from the scan room straight into a consultation room where we spent 2hrs with a counseller.

Hopefully your next scan will give you that happy, excited feeling we all deserve. x


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## ceebs2013

Well after a massive mix up at the hospital yesterday we didnt get to see a consultant then. However I have just had the CVS. I have to say it was awful! I have a phobia of needles anyway but it really was just the most horrible experience :( But I got through it! It's now a waiting game for the results. They did another scan before doing the CVS and the nuchal measurement was the same which was disappointing because we were really hoping it might have gone down. They checked all organs and limbs etc and they all appear normal at this stage so I guess thats something at least.
I just hope we get these results back quickly because the thought of yet MORE waiting is not a nice one!
xx


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## Emma867

At least you got through in Hun! Did they give you an indication of time for your results?


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## Miss Bellum

ceebs2013 said:


> Well after a massive mix up at the hospital yesterday we didnt get to see a consultant then. However I have just had the CVS. I have to say it was awful! I have a phobia of needles anyway but it really was just the most horrible experience :( But I got through it! It's now a waiting game for the results. They did another scan before doing the CVS and the nuchal measurement was the same which was disappointing because we were really hoping it might have gone down. They checked all organs and limbs etc and they all appear normal at this stage so I guess thats something at least.
> I just hope we get these results back quickly because the thought of yet MORE waiting is not a nice one!
> xx


Sorry to hear the CVS was so horrible :hugs: Hope you get the results quickly x x


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## ceebs2013

Thanks ladies :) they said 3 to 5 working days but said we should hear by the weekend. I have read it is normally 2 or 3 days so I am really hoping we might hear tomorrow but as long as we don't have to get through another weekend of wondering then I will be happy! Even if the results are not good,at this stage we really just want to know either way. We won't get the full results for 2 - 3 weeks but they said once we know about the main 4 then that takes out 95% of the chance of their being an chromosome abnormality. So we have our fingers and toes crossed! xxx


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## kaths101

Have no advice and Don't want to read and run but wishing your family all the best xx
Hopefully all this worrying has been over nothing. :hugs:


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## Newt4

Hoping for the best for you!


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## Wriggley

hoping you get a good result back from the test :hugs:


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## ceebs2013

Just a little update, we got the first lot of results back today for the CVS and baby is clear of the 4 main chromosome abnormalities! :) so we now have another 10 day wait on our hands for the full result and they have booked us in for a cardiac scan to check if there are any heart defects and also an earlier anamoly scan to check organs. Fingers crossed the rest turn out ok, I just want to be excited now but it's impossible with so much hanging over your head! But at least we have got the past the first hurdle anyway :) xxx


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## Wriggley

thats brilliant news hun!!!


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## Emma867

Ceebs that's great news! I've purposely logged on to check this thread and I'm delighted for you! It is great news so celebrate that. It's easy to dwell on all if the other things (I know we are too) so go out and have a nice meal or something to reward yourself for the recent stress x


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## ceebs2013

Thank you so much Wriggley and Emma! I will have to try and take your advice and at least try and give myself the weekend off from worrying! We are off to see family this weekend so that will help keep our minds off the rest of what is to come at least for a while. Now a week and a half countdown until the full results and heart scan! Thanks again all :) xxx


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## Emma867

We have got two weeks til our detailed scan for heart and kidneys so we are trying not to clock watch...impossible!


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## Miss Bellum

ceebs2013- fantastic news, really pleased for you x x


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## maxalias

So sorry you have to go through this xxx Last august I had my nuchal scan and we were told it was one of the largest cystic hygromas they had seen for a long time. It was 10.6mm. My wee baby had fluid all over her body and swelling in her brain. I was booked to go to Thailand the very next day. Our family went as we had to wait till 15 weeks until the amnio anyway and I thought it might take my mind off it. It didnt. I was glued to a computer the whole time researching. It all sounded bad, I was told to expect to mc while away a there was a very obvious abnormality with our baby. We got home and the night before our specialist app (18 weeks my dates, 16.2 theirs) I started getting a stringly brown discharge, sorry tmi, I knew baby had died. The next morning before the amnio we had a scan and instantly I could tell there was no life. It was the saddest moment but I also felt like a weight had been lifted off my shoulders as baby had gone in her own time and I didnt have to make a decision I may have lived to regret. I was given 2 pills and asked to come back in 2 days for labour and delivery. It was a heart renching day. After I gave birth I was shocked with how (they told me she was a he!) looked. She was very swollen and as I held her all the liquid came out and after 3 hours she looked really good. Her wee ears were down under her chin and she didnt look quite right. I asked for a post mortem to be preformed. After 5 long weeks I found out my little boy (who I called Ricky after her grandad) was actually a girl and that she had edwards syndrome and a congenital diaphramic hernia is what cause her death so early. I am pregnant again and I am due for my nuchal scan next friday. I am beside myself with nerves. I hope I am not so unlucky that it happens aagin. We were given a 1:1200 odds of having edwards syndrome after the combined screening and a 1:15 of downs so I was very surprised that was the outcome. I am going to be 35 when this bub is born so I am really hoping we have a good out come this time. I am thinking of you and hope your wee darling is healthy. And if not, You will get through this xxx


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## ceebs2013

Thanks MissBellum!

Emma it sounds like we are on pretty much the same countdown! You will have to let us know how yours goes :) Fingers crossed for you!

Maxalias I am so sorry to hear of your baby girl, that sounds devastating :( I bet it is so scary going through pregnancy again and worrying that something similar might happen but I haven't heard many stories of people who have gone through something like that more than once. Rich coming from me I know but try to stay positive :) I have everything crossed for you :) xxx


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## Emma867

So sorry to read your story maxalias. Let us know how your NT scan goes xx


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## pip2009

That is fantastic news ceebs2013, I am so pleased for you! Fingers crossed for your next set of results xxx

maxalias - so sorry to hear your story, my little girl also had edwards syndrome and we said goodbye to her at 15 weeks. I am now pregnant again (will be 35 when this one is due too) and like you, absolutely dreading my 12 week scan. Have got my fingers crossed that all is well for you on Friday. Big hugs xxx


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## BrightLights

That's brilliant news ceebs2013!

My little one last scan nuchal translucency was 8mm at 12 weeks. I have scan tomorrow as an early anomaly scan and to check the heart, I'm terrified but thinking positive!


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## ceebs2013

Good luck to everyone on their scans! Let us know how they go! xx


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## Leesy

Thinking of all of you awaiting results! Big hugs to you all, I've been there and we were one of the lucky ones so praying you all are too. xxx


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## chocolatecat

Good luck ladies. Hoping you all have happy healthy scans. Xxx


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## Emma867

^Love your pic chocolate cat :thumbup:


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## maxalias

Hi xxx My scan today was perfect!!!!!!!!!! I couldnt believe it! I was very ready for bad news. i just have to wait for the bloods now but they couldnt see anything that would make them think anything was wrong! So so happy. I hope you all have positive outcomes too xxxxx


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## ceebs2013

That's great news Maxalias! Congrats! At least now you can hopefully relax and enjoy the rest of your pregnancy! :) xx


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## littleone2010

Ceebs I'm so pleased you got good news. I had an abnormal nt measurement yesterday, I'm waiting for my bloods to come back in the next few days and have to go for specialist cardiac scan in London on wednesday. So worried and nervous. I was so upset yesterday but tody I'm trying to have my practical head on. Good luk with the rest of your results, I'm sure everything will be just fine xxx


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## ceebs2013

Sorry to hear that littleone :( it is such a horrible time. What was your measurement? Did you have a cvs? We have also got a cardiac scan on wednesday - I am literally counting down the hours and have everything crossed. I hope yours goes ok, let me know! xxx


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## littleone2010

Hi Hun. My measurement was 3.6mm. I have to wait for my bloods to come back for the risk before having cvs. If the results come back on Monday as high risk I will be having the cvs, I think they will try and get me in asap. They Did a very in depth scan of the heart when they saw the nt measurement was high and said the Heart looked absolutely fine but they want me to go for a specialist scan. I can't stop thinking about it and I'm just so worried :(


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## littleone2010

It's the waiting that's the worst and this weekend got n the way of me getting my results tomorrow :(


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## ceebs2013

How far along are you? The waiting really is the worst. I had an 8 day wait between finding out about the measurement and then getting first lot of results from cvs. Then another 12 day wait between that and the cardiac scan and getting full results. Once this weekend is done the time will fly by until wednesday. I wish I could give some wise words but I know how hard this situation is and nothing anyone can say will make you feel any better until you have some answers. All I can say is 3.6mm isn't too big, ours was 7.3mm and most of the threads I read seem to be at least 5mm. So at least there is a strong chance that it will resolve itself as it isn't too big to begin with. I have my fingers crossed for you hun, I hope it all turns out ok for you xx


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## Wriggley

ceebs2013 said:


> How far along are you? The waiting really is the worst. I had an 8 day wait between finding out about the measurement and then getting first lot of results from cvs. Then another 12 day wait between that and the cardiac scan and getting full results. Once this weekend is done the time will fly by until wednesday. I wish I could give some wise words but I know how hard this situation is and nothing anyone can say will make you feel any better until you have some answers. All I can say is 3.6mm isn't too big, ours was 7.3mm and most of the threads I read seem to be at least 5mm. So at least there is a strong chance that it will resolve itself as it isn't too big to begin with. I have my fingers crossed for you hun, I hope it all turns out ok for you xx

hay hun im confused by the thread lol have you had the full results back yet??


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## ceebs2013

Lol not yet hun, only had the first set back. Should have the s full set next week around the same time as my cardiac scan xx


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## Wriggley

ceebs2013 said:


> Lol not yet hun, only had the first set back. Should have the s full set next week around the same time as my cardiac scan xx

ok hun - totally been stalking you for an update. thinking of you!


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## ceebs2013

Haha! I will be sure to update after the scan on wednesday! :) xxx


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## ceebs2013

Hi all - just a little update.
We had the heart scan today and at the moment it all appears normal although she said it is still too small to see the smaller details but the overall structure of the heart appears how it should. We won't have another heart scan now for another 6 weeks :( 

They didnt take the fluid measurement again and we STILL haven't had back full results so although I guess it was good news about the heart we still kind of feel like we are in limbo until we know the results. 

I think I must have expected too much from the scan because I left feeling a bit disappointed that there wasn't more reassurance. The woman was quite cold and didn't really say very much at all so I don't feel any the wiser except that the heart seems ok at this stage for what they can see. We at least have another scan next wednesday so I think that is the scan they will check for things I was hoping they might do today!

Fingers crossed for results by the weekend, the waiting is killing me!! xxx


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## Wriggley

ceebs2013 said:


> Hi all - just a little update.
> We had the heart scan today and at the moment it all appears normal although she said it is still too small to see the smaller details but the overall structure of the heart appears how it should. We won't have another heart scan now for another 6 weeks :(
> 
> They didnt take the fluid measurement again and we STILL haven't had back full results so although I guess it was good news about the heart we still kind of feel like we are in limbo until we know the results.
> 
> I think I must have expected too much from the scan because I left feeling a bit disappointed that there wasn't more reassurance. The woman was quite cold and didn't really say very much at all so I don't feel any the wiser except that the heart seems ok at this stage for what they can see. We at least have another scan next wednesday so I think that is the scan they will check for things I was hoping they might do today!
> 
> Fingers crossed for results by the weekend, the waiting is killing me!! xxx

:hugs: how many weeks are you now?? i had my 20 week scan on monday and the sono said that at 20 weeks the heart is still only the size of a 5p coin so im guessing if your a few weeks behind 20 weeks it must be even smaller.

good to hear that the heart seems to be forming well though hun 

shame about the results i really hope you get them soon :hugs:


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## ceebs2013

Got the full results today and they were normal!!! :-D just need to get through wednesdays scan now!

I am just over 15 weeks so yeah I guess it must be pretty tiny!!! xxx


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## Wriggley

Aw that's brilliant news hun so do they know why the nt measurement was so big or is it a case of just something unexplained?

Yeah hun that 5 weeks difference the heart is going to be super tiny so all sounds good to me I so pleased for ya x


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## Emma867

Glad your results came back clear ceebs! Our scan is tomorrow, wonder what we will see? X


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## maxalias

awww so happy for you!!!!! x


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## littleone2010

I'm so happy for you Hun. Hope we get the same results.
We won't be getting the cardiac scan until closer to 20 weeks as the doctor said the hearts too small and if they do it now thy will have to do it again at 20 weeks to be accurate but it's great that you are getting lots of scans and are being looked after xxxx


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## Miss Bellum

ceebs2013 said:


> Got the full results today and they were normal!!! :-D just need to get through wednesdays scan now!
> 
> I am just over 15 weeks so yeah I guess it must be pretty tiny!!! xxx

Fantastic news! so pleased to hear everything is fine x x


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## maybebaby3

Great news! Good luck for your scan!


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## ceebs2013

Thanks all :)

How did your scan go Emma867?

We need to have another heart scan at 21 weeks to check the smaller details, they could only tell us that the overall structure looked normal but they don't know about anything smaller yet.

Fingers crossed! xx


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## AngellXeyesO

Hello everyone,
I know this thread was started a few weeks ago, so I hope you don't mind if I join. I went for my NT scan last week and was given a 3.2 measurement and 1:13 for DS. We were refered to a a genetic counselor where we were told of our options. I really don't think I can go through with a CVS or amnio.. I don't know how to decide. No matter what the outcome I will not terminate, so I don't know if the risk is justified. I also don't know if I am okay with going the rest of this pregnancy not knowing what to think.. Has anyone been offered the new blood work there is? I was told it is like a year or so old and would cost 250 out of pocket, but I don't remember how accurate the results were. I think I am going to opt for the blood work. I was wondering if anyone else was given that option. I am in the states, rhode island to be exact.


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## snj

AngellXeyesO said:


> Hello everyone,
> I know this thread was started a few weeks ago, so I hope you don't mind if I join. I went for my NT scan last week and was given a 3.2 measurement and 1:13 for DS. We were refered to a a genetic counselor where we were told of our options. I really don't think I can go through with a CVS or amnio.. I don't know how to decide. No matter what the outcome I will not terminate, so I don't know if the risk is justified. I also don't know if I am okay with going the rest of this pregnancy not knowing what to think.. Has anyone been offered the new blood work there is? I was told it is like a year or so old and would cost 250 out of pocket, but I don't remember how accurate the results were. I think I am going to opt for the blood work. I was wondering if anyone else was given that option. I am in the states, rhode island to be exact.

So, did u go thru any tests!?? 
I am exactly feeling the same way as u. U just took the words out of my mouth. We still have till we r in my week 16 to make the decision about the test. I am gonna enquire about the harmony test as well tht involves blood work and scan. My baby's neck measured upto 5mm at week 10 scan :nope::cry:


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## snj

Miss Bellum said:


> I am so sorry to hear you are going through this. I can sympathise, it is hard when it all seems to be going well and then you get this news :hugs:
> 
> We were told we had a high risk which was calculated at 1 in 41. Was very confused and scared for a few days.
> 
> After a further talk with the midwife, and looking at the stories from people in a similar position, we decided against any further testing. As far as we are concerned, the odds of a having a healthy baby are high enough that we don't want to take the risk of harming bean by doing the invasive tests. Also, as far as we were concerned, what ever the test showed, we would still keep the baby so why risk it?
> 
> But I can fully understand why you might feel you need the certainty of CVS.
> 
> Its a very tough decision and very personal so I wish you all the very best for what ever you decide to do :hugs:

I totally get your point miss bellum... We too r not opting for any invasive tests coz the results would never change our mind of keeping the baby or not. And since i had miscarriages previously we cnt take another chance for miscarrying this pregnancy also. So trusting god and hoping that our baby will be very much normal and not affected by any of this. Hoping the same for u guys.


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## Tower6

Emma867 said:


> Hi there, we have just gone through the very same experience. From sheer exhilaration of that first scan to plummeting down to earth with a bang thanks to high NT reading and bloods. We were gave a 1:8 risk.
> 
> Opted to have the CVS and yes it is uncomfortable as the other poster said but you can get through it. We were initially advised that the results would take 2-3 days for the downs screening and 10-14 for the full chromosomal results. Turned out, there wasn't enough cells to do the quick screen and we had to wait a painful 16 days all in all.
> 
> We finally got our results last Friday.
> 
> All clear! No chromosomal problems at all.
> 
> All I can say is take each day as it comes. It's hard to remain positive because I sure didn't feel positive but I hope and pray all turns out well for you too.
> 
> One more thing, the CVS carries a 2-3% risk of miscarriage and the Amnio is 1%.

Hi, I'm going through this as we speak. We just got home from out scan and after 3 perfect babies I have been told this one has something wrong. I was just curious as to what the nt measurement was for your baby before you found out everything is ok?

Thanks


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## Emma867

Hi there, our measurement was 3.5mm at 11wks which apparantly is the limit where they discuss possible problems. 

I had the CVS a few days later and waited an awful 3wks for the results which came back all clear! Terrifying times.

What is your measurement? X


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## Tower6

It was 5.7 :( I am so worried. I have to wait 7-10 business days before my blood comes back and then from there I was offered a materniT21 test if the result does show a problem. Was the CVS where they go through the belly? I just don't what step to take next :/ 

Are you all cleared? Thanks so much for the reply!


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## Tower6

I just wanted to update- my materniT21 results just came in and baby is perfectly healthy!!!!!! Negative for T21,13,and 18. It only took 1 week to get the results and was supposed to be 2weeks so that was great. I think this test is absolutely AMAZING simply because it's so simple and non invasive!!! I finally got to a sense of peace through a lot of prayer and realized that even with downs I would be grateful that the baby could still live and be born and not be incompatible with life, and that we would just learn a new normal. This result was simply a miracle from God and nothing less. I hope anyone else reading and going through this right now will have hope after our nuchal fold being 5.7mm and the first round of blood work showing signs of downs. 

This test also tells you the gender and we are having our FOURTH girl!!!!!


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