NT scan - good scan, not great for T18 and PAPP-A

[konapoppy]

Update: Heard a nice strong hb this am and doctor isn't worried. I think I am going to wait it out for the next round of blood work. I did get a referral for a genetic counselor, so I can use that whenever I want to. It is nice to have in my back pocket. Thanks all for the good thoughts and stories!

Update: I talked to my close friend who is an OB over the weekend. On her recommendation I am going to ask for a cell free dna test first, then the amnio of needed. Hopefully there is a hb tomorrow on the ultrasound. Will likely get a second opinion from a high risk doctor if mine only recommends the 2nd tri blood test and doesn't think the PAPP-A is a big deal. I really appreciate all of the stories and positive thoughts. I will update tomorrow after my appt.

Hello!

I know I don't go here yet, but between MM and Got P, I see a lot of familiar faces and knowledgable parents here. I am hoping some folks might have success stories or insights on my situation.

I am 13 + 4 and found out on Thursday evening that while my NT scan was normal, my blood tests came back 1:63 for Trisomy 18, with my PAPP-A at an incredibly low .06 MOM.

I was freaking out about the trisomy, trying to remind myself that there is still a 98% chance of not having it, when I went down the Dr.Google rabbit hole. Now I find myself really freaking out about the PAPP-A number.

I am going to see my doctor on Tuesday morning, but does anyone have and stories to share, with positive or less than ideal outcomes? I know there is nothing I can really do either way, but real experiences are helpful.

[asoctoberfalls]

I don't have any experiences with this, but I just wanted to send you good thoughts & prayers.

[boiler717]

I have no idea but I'm sure that is so scary. I hope you get some good news Tuesday.

[pinkyp]

I never had blood work but when my NT scan came back abnormal I opted for an amniocentesis, which was completely normal. The screening tests can have a lot of false positives, try not to worry too much! Easier said than done I know.

[boxerdog]

I don't have experience with the Papp-a, but I had similar odds for trisomy 21. I went ahead and got the materniti21 test done. Everything came back normal. I hope everything is fine! I know how stressful it is. A good NT scan is a good sign.

[Velar Fricative]

I didn't want to post but you did ask for less than ideal outcomes...

My blood tests showed a 1:19 chance for a specific chromosomal microdeletion (chances should have been about 1/4000). Unfortunately, it was confirmed via amnio that the microdeletion did exist (and it found other issues as well).

HOWEVER, with DD, I was given a 1/100 chance of T21 after bloodwork and confirmed via amnio that she did not have T21.

The best you can do is talk to your doctor and focus on the numbers, so keep focusing on that 98%! You have the right to opt for the amnio (or CVS) or not. Even if termination is not an option, I am a firm believer in knowledge being power (you can make hospital/birth plans with specialists ready to be there, etc.) and so I'm pretty pro-amnio. I'll be thinking of you!

[konapoppy]

Jun 27, 2015 8:59:33 GMT -5 Velar Fricative said:

I didn't want to post but you did ask for less than ideal outcomes...

My blood tests showed a 1:19 chance for a specific chromosomal microdeletion (chances should have been about 1/4000). Unfortunately, it was confirmed via amnio that the microdeletion did exist (and it found other issues as well).

HOWEVER, with DD, I was given a 1/100 chance of T21 after bloodwork and confirmed via amnio that she did not have T21.

The best you can do is talk to your doctor and focus on the numbers, so keep focusing on that 98%! You have the right to opt for the amnio (or CVS) or not. Even if termination is not an option, I am a firm believer in knowledge being power (you can make hospital/birth plans with specialists ready to be there, etc.) and so I'm pretty pro-amnio. I'll be thinking of you!

Thanks for sharing. I know how raw this is for you.

Good to hear that the amnio was worth it both times. Have you done any testing to determine cause/recurrence chances? I have already had one m/c, so I think I will want some testing done if this isn't a successful pregnancy.

[Velar Fricative]

Jun 27, 2015 9:05:33 GMT -5 konapoppy said:

Jun 27, 2015 8:59:33 GMT -5 Velar Fricative said:

I didn't want to post but you did ask for less than ideal outcomes...

My blood tests showed a 1:19 chance for a specific chromosomal microdeletion (chances should have been about 1/4000). Unfortunately, it was confirmed via amnio that the microdeletion did exist (and it found other issues as well).

HOWEVER, with DD, I was given a 1/100 chance of T21 after bloodwork and confirmed via amnio that she did not have T21.

The best you can do is talk to your doctor and focus on the numbers, so keep focusing on that 98%! You have the right to opt for the amnio (or CVS) or not. Even if termination is not an option, I am a firm believer in knowledge being power (you can make hospital/birth plans with specialists ready to be there, etc.) and so I'm pretty pro-amnio. I'll be thinking of you!

Thanks for sharing. I know how raw this is for you.

Good to hear that the amnio was worth it both times. Have you done any testing to determine cause/recurrence chances? I have already had one m/c, so I think I will want some testing done if this isn't a successful pregnancy.

Yes I have. The testing found that we were just the unlucky "1" in the stats, if that makes sense. It was a random occurrence.

[imojoebunny]

My results from the NT measurement came back 1 in 3 for a defect. I had the CVS, it was quick and easy, though it did need to rest for 24 hours after (no lifting, running around). Thankfully, I was the two out of three. Wishing you lots of good luck. Try not to worry, until you have the more accurate results (impossible, I know). No way could I have gone through my pregnancy not knowing.

[konapoppy]

Jun 27, 2015 11:14:08 GMT -5 imojoebunny said:

My results from the NT measurement came back 1 in 3 for a defect. I had the CVS, it was quick and easy, though it did need to rest for 24 hours after (no lifting, running around). Thankfully, I was the two out of three. Wishing you lots of good luck. Try not to worry, until you have the more accurate results (impossible, I know). No way could I have gone through my pregnancy not knowing.

Thank you for sharing your experience. I am glad it all worked out!

Yeah, we need to know. T18 is essentially considered fatal (if not in pregnancy, then in the first year). 

For the PAPP-A, googling tells me that there are other serious complications outside of birth defects, which is making it a bit more terrifying. 

[qcinoct]

My NT scan for DS2 came back with a 1:2 chance for chromosomal problems (it measured 6.2mm at 11 weeks and 9.2mm at 13 weeks). We didn't have the blood test results back at that time though. We opted for the CVS at 13 weeks. That was normal but he still had a lot of fluid on his neck (actually, a septated cystic hygroma), so we did further testing at 20 and 28 weeks. He's completely normal (although, he did have a really fat neck, with extra skin at birth).

Lots of T&P to you.

[pinkyp]

Also, really try to stay away from Google if you can help it. You often end up reading about worse-case scenarios and will just freak yourself out. I had an agonizing 22 day wait for my results-ugh! My husband made me watch a ton of BBT and other stuff to try to keep my mind occupied.

[konapoppy]

Jun 27, 2015 12:52:00 GMT -5 @cookiemonster03 said:

They may be able to squeak you in for a cvs. I'm not sure what the cutoff is. Mine was at 12+3 last year. I had bad results but my NT scan was also abysmal and we wanted confirmation before terminating (it was T16, so fatal). Preliminary results were in on Monday after a Friday test, and full results were in Friday. Best wishes to you!

I think I am too late, since I will be 14 weeks Tuesday and doubt I can get a same day appt on Monday. we will probably do an amnio if baby holds on that long.

[The Foozzler]

Saw this on the app...

I was high risk for chromosome abnormalities after my NT scan. I was able to get the verifi done, which was able to decrese the odds significantly. Because of that I decided against an amnio. I am currently laying here with my happy, healthy baby.

Good luck!

[Muddled]

Just wanted to say that you're in my thoughts. I can only imagine how stressful this must be for you.

[miamigirl]

Thinking of you Kona, hoping for the best.

[imojoebunny]

Jun 27, 2015 12:56:39 GMT -5 konapoppy said:

Jun 27, 2015 12:52:00 GMT -5 @cookiemonster03 said:

They may be able to squeak you in for a cvs. I'm not sure what the cutoff is. Mine was at 12+3 last year. I had bad results but my NT scan was also abysmal and we wanted confirmation before terminating (it was T16, so fatal). Preliminary results were in on Monday after a Friday test, and full results were in Friday. Best wishes to you!

I think I am too late, since I will be 14 weeks Tuesday and doubt I can get a same day appt on Monday. we will probably do an amnio if baby holds on that long.

I would be setting up the appointment for the CVS on Monday now.  They will get you in if your risk is high, and you are running out of time, but you have to be clear with them about the urgency.   I would not wait the extra weeks until you can do the amnio.  I would have gone crazy.  

[catbear]

I had low PAPP-A also (.32 MoM or 5th percentile). Another poster had the same thing at her NT scan, this is what I wrote then: pandce.proboards.com/post/6404680/thread. I had a totally normal outcome and no complications whatsoever.

I hope you have a good outcome, thinking of you. Good luck!

[konapoppy]

Jun 27, 2015 18:55:39 GMT -5 catbear said:

I had low PAPP-A also (.32 MoM or 5th percentile). Another poster had the same thing at her NT scan, this is what I wrote then: pandce.proboards.com/post/6404680/thread. I had a totally normal outcome and no complications whatsoever.

I hope you have a good outcome, thinking of you. Good luck!

This thread was super helpful. I must have missed it before in my search. Thank you for sharing the positive story and for calling this out!

[Mushe]

Thinking of you, Kona! I agree that if there's any chance of still getting s CVS, I'd try to get it scheduled on Monday. Lots of good thoughts for you!

[KaraOrNot]

I'll be thinking of you. Hugs.

[kmpls]

 I had a crazy low PAPP-A score, it was like .5 percent.

I was also too late for CVS but had an amnio.

3 years later I have a happy crazy 3 year old. My pregnancy was pretty uneventful and healthy otherwise.

Its just a screening but I was completely freaked at the time too.

Best of luck!

[thatgirl2478]

I have no first hand experience with either, however I did want to share that T18 isn't always fatal. A girl in our church has it and she's in High School now. Yes she is severely developmentally delayed, but she's learned to do a lot of things on her own with a lot of support from her family and various therapists. She is the exception, though.

(hugs) I have a small idea of what you're going through, but my daughter's issues were much less severe (missing a kidney). Take care of yourself and try not to worry (ha) until you have more information.

[thejackpot]

I don't have any experience but wanted to send you all of the good thoughts that I can. Hope you get some answers very soon.

[loira]

I'm late to this post, but I saw your comment on GotP and thought I would share my experience, although unfortunately it falls into the 'less than ideal' category. Our NT scan and bloodwork came back completely normal, but at the A/S they found a heart abnormality common to a chromosomal microdeletion. We decided to have the amnio, and unfortunately the results came back positive for 22q. We ultimately made the heartbreaking decision to terminate. I'm with Velar on the whole 'knowledge is power' thing, regardless of what your decision might be.

We did have testing done afterwards, and it was just a random occurrence in our case.

I hope you don't have to make a decision at all, and that further testing brings good news.

[boiler717]

I hope you can connect with your doc today. Thinking of you!

[pinotgrig]

Thinking of you today and sending you good thoughts. I hope you get good news soon.

[konapoppy]

Thanks for sharing your story, loira. I am so sorry for your loss. I am so impressed by your strength and perseverance.

[HoneySpider]

I'm so sorry you're going through this, the waiting and uncertainty is the worst. Thinking good thoughts for you.

[ginkgoleaf]

Thinking of you, so sorry you are going through this uncertainty.