Abnormal NT/NIPT results support thread - "TW"

BlondePeanut

I figured I would start this. It is my hope that everyone has normal/low risk results and ultrasounds...but I unfortunately did not. My NT scan revealed a fluid measurement of just below a 6 which is much higher than normal. I am still awaiting my Counsyl Prelude test results which are due next week The genetic specialist gave me the following odds just based on that measurement alone (baby had a good heart rate and was measuring a few days ahead in size):
51% chance of a non-hereditary chromosome abnormality (likely Downs or Turners Syndrome)
49% chance of no chromosome issue/negative blood test results, but there would still be a 25% chance of a heart defect causing fluid buildup
10% chance point blank period no matter what that the baby will not survive full term pregnancy due to the fluid retention on its own

I am 30 yrs old and DH is 31. We have had one other pregnancy which we were blessed to have a super healthy DD as a result of. She has no birth defects/medical abnormalities and had all 100% low risk/clear test and ultrasounds through the whole pregnancy. She was delivered via c-section at 39+1.

What broke my heart even more was when the discussion came of if there is something found to be wrong, my husband and I would have to make a decision on whether we would like to terminate pregnancy based on the findings. We both at this point firmly believe we will not do that, and will continue the pregnancy and give the baby the fighting chance, hope and prayers for good health. 

Obviously we are still pending the blood portion of testing, but I have done countless hours of research in my worry and found many stories of people getting false positives on the NT scan alone which led to unnecessary fears and worry. I also read of people getting questionable results back from everything and delivering healthy babies that had no defects or disorders of any kind. We are clinging to hope and prayers and I am desperately trying to focus on the 49% of everything being fine, and the 90% chance that baby will make it full term and survive delivery and grow/thrive. 

Regardless it is never an easy thing to go into an appt expecting normal things and to be told they see something not right with the baby that is concerning. It has been a whirlwind. I figured this would be a great place for support, questions, and if anyone else has an experience to share in a thread dedicated to just this type of scenario.

And again, thank you all so so much for all your kinds wishes and support!!!!!!!

BlondePeanut

I just got an email that my blood test is being processed and results should be ready 12/26. I will update here once I get my results. Fingers crossed for a Christmas miracle  

ShadeofGreen816

@BlondePeanut I’m so sorry that you’re dealing with this. The waiting is excruciating!! I’m so sorry. I hope that the blood results are more definitive. Is it the chromosomal blood testing or just the testing looking for markers? I’ll be thinking/praying for you, DH, and baby. ❤️

BlondePeanut

@ShadeofGreen816 Thank you. It is the chromosomal blood testing which will reveal gender and checks for Trisomies (like Downes Syndrome), sex chromosomes, and microdeletions. I don't know much about these testings, but my OB and the genetic specialist said it is extremely accurate in predicting approx 13 disorders and will also note if there is anything else showing abnormal. My insurance didn't cover it with my previous pregnancy due to my age and normal NT results, so this is totally new to me.

sparklingdiamond

@BlondePeanut I am so sorry that you got this news but definitely staying positive for you that you are in the percentage where nothing is wrong. I hope you get the blood results soon.

carleym93

Thinking of you and your baby! I’m holding out so much hope that everything is okay. 

Dcwtada

Hoping and praying for a Christmas miracle for you. I am so sorry you are going through this, I can’t imagine how scary this is and having to wait to get answers. Try to hang in as best you can (yes I know a lot easier said than done) and we will be head for any support you need. ❤️

cbowl10

Hi.  I’m in a similar situation - I had normal results back from my NIPT test but my NT Scan was 4.1 at my regular OB.  They did another scan at the MFM which had the NT measurement of 3.0.  Basically we are in a wait and see position.  The MFM wants to work off his results and do an early level II Scan at 16 weeks.  Although he did offer me a CVS on the spot.  I declined because I have a history of miscarriages and I felt overwhelmed at the time.  I’ve been doing some research and it looks like there are a few other NIPTs that offer more details than just what I received from my Materniti21 results so I’m going to call my doctor today to discuss.

im so sorry we are both going through this @BlondePeanut .  

anitamargarita_82

@BlondePeanut lurking.... I was part of June ‘17 Bmb.   I had irregular results from my NIPT.   While not the same situation as yours this is what I dealt with... my NIPT indicated Turners syndrome.   They couldn’t find her other female chromosome.   I had an amniocentesis to do a full genetic work up on her.  At the time of my amino they found a cyst on my daughters brain.  It was causing her cerebellum to not grow properly.   The cyst was diagnosed as a variant  of a dandy walker malformation.   The amnio ruled out turners.   I was asked no less 4-5 times at different stages of my pregnancy if i wanted to terminate due to what they saw with her brain.  I refused to terminate.  My daughter was born 9 weeks premature.  She’s now almost 2 and aside from preemie related issues she’s trucking right along in life.  Do what’s right in your heart.  

catmommac

@BlondePeanut we were both in the Feb ‘17 BMB and my heart breaks for you. I’m so sorry you are going through this. I hope right along with you that you are in the 49%.

BlondePeanut

So I am still waiting for my results. I got an email that my Dr was given my results this afternoon so I called just to find out that they won't have them until tomorrow or Friday? So now I am pissed off because it doesn't make sense to me, my results are done, so just provide them already!!!! I have a follow up appt Friday morning, but I am hoping since the results were released today before end of business hours, they can call me in the morning with them. My Dr told me she would call as soon as she got them and I wouldn't have to wait....so I am waiting another darn day. It feel like forever. I will update as soon as my results are FINALLY given to me. And you can bet that I will be calling tomorrow morning. 

dntstpbelieveing

Do you have a portal where you could send a message? I'd totally call every 5 minutes. Hell I called once an hour for my HCG until I got the results. 

antera23

How frustrating @BlondePeanut I hope you get your results tomorrow! I am praying for you and your sweet baby. 

I’m sorry you’re in the same situation @cbowl10 being in limbo is not a good feeling. Im thinking of you 

BlondePeanut

@dntstpbelieveing I wish they did, but they close at 5 so once the phones open in the morning, you better believe I will be on that line. The secretary got a bit of snark from me because she her tone was basically saying: what is one or two more days of waiting, no big deal. I almost flipped out, but DH reminded me that she doesn't know why I want my results so badly and all we went through at our appt so not to blow up on her. The Counsyl website won't release my results to me until Friday morning because my Dr has to sign off that she will explain my results to me. I tried calling them and persuading them to push them through, but I guess for liability reasons they can't until my Dr signs off. Such BS in my opinion but maybe the results are medical mumbojumbo that won't make sense to me. I really don't know what to expect 
 

ShadeofGreen816

That is so frustrating! I hope you get results first thing in the morning.

dntstpbelieveing

@BlondePeanut I am so sorry. That is awful. I don't know that time zone you are in but my fingers are crossed that your Dr stays late to chart and may still call tonight. 

carleym93

@BlondePeanut How frustrating! I’d be hassling them for those results all day tomorrow. Thinking of you and will be looking for an update 

chachacharrrmin

@BlondePeanut So sorry that you have to wait longer for your results - so frustrating! I'll ve waiting for your update ❤

BlondePeanut

You ladies rock. You really have been so supportive, I can't say enough how much I appreciate it. 

chrssyms

@BlondePeanut I’m sorry you are still waiting for your results! I was so frustrated when they took over a week after receiving them to give me mine and it wasn’t until I bugged the absolute crap out of them that I finally got them! I can’t even imagine the added pressure! Definitely call and, while
maybe you don’t yell at the receptionist or nurse on the phone (not that I’m saying you would), maybe make an extra plea and tell them a little about your situation so that you might get additional support and they will
empathize with helping you get them faster. Good luck and I can’t wait to get your update!

vv826

@BlondePeanut I'm sorry you had to wait longer but I hope you hear back today!

KissMeImScottish

Fingers crossed you get some answers today, @BlondePeanut. I understand the receptionist may not have been in the room with you to know your exact situation, but I feel like there should be either a note in your file (the record she can see) or some general understanding that genetic results are anxiety producing for a reason. 

marijaa333

Thinking of you @BlondePeanut with fingers and toes crossed.

ki1244

Everything crossable is crossed for you this morning @BlondePeanut. For sure sound extra sympathetic and maybe let it slip why you're so worried if the answer isn't forthcoming right away! Here's to timely, GOOD results...

sparklingdiamond

@BlondePeanut Thinking of you and hoping they call you soon with great results!

mkfolse22

Thinking of you @BlondePeanut! I hope you get good results from the blood test! I would definitely keep calling too!

cricket1688

Thinking good thoughts for you @BlondePeanut!

pbtoast

I’ve been thinking about you, @BlondePeanut. I’m so sorry you have to wait even longer. Hoping you get answers and good news today. 

eleven_

@BlondePeanut I'm so sorry you've had to deal with all this stress. Hoping so hard you for good news today. 

TJtheGoat

@BlondePeanut FX for good results today!

antera23

@BlondePeanut hoping for good results today!!!

BlondePeanut

We finally got our results! The blood tests were negative, so the little one does not have a chromosome abnormality or missing sex gene. We are not 100% in the clear because we still have that stupid 10% miscarriage risk and the 25% risk of heart abnormality.....but we passed the bigger hurdle. And we are having another little girl! I have a growth check tomorrow and in two weeks my first anatomy scan (I will get 2). Thank you all!!!!! All the fingers/toes crossing and good thought and prayers worked so far

dntstpbelieveing

@BlondePeanut yay!! I am so glad that you passed the first hurdle! I am so sorry about all of the anxiety and stress you have had lately. 

kjr9519

So glad to hear that @BlondePeanut ! FX that everything else goes well, too.

cricket1688

@BlondePeanut i just got the chills and teared up reading that news. I hope things continue to look good for you!

BlondePeanut

Thank you all so much!

marijaa333

Woo-hoo! So thrilled for you. Hopefully it's all smooth sailing from here. Great that you will get two detailed scans. :-) And congrats on a girl. :-) 

ridermissus

So happy for you!

sparklingdiamond

@BlondePeanut Yay for the great news!!

tuxielove93

@BlondePeanut yay!! Congrats on the little girl Im
so glad it all came back good, and I will continue thinking of
you and your little one and crossing everything that it works out for you 

meatballs37

@blondepeanut what a relief! Congrats to another girl!