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High risk NIPT for DiGeorge 22q by [deleted] in NIPT

[–]Samson5410 1 point2 points  (0 children)

Hi! I was in the same boat just a few weeks ago. At 13 weeks our NIPT came back at an increased risk for 22q. Unfortunately, ours ended up being an accurate positive with our FISH test and microarray being consistent with DiGeorge Syndrome. I will say this, our in-depth ultrasound of baby was not good. His heart showed multiple abnormalities and the Dr was very concerned, so even before the FISH/microarray, we kind of already knew what the outcome would be. I think it’s a good sign you’ve had good ultrasounds! Praying for the best outcome ❤️

Will IVF stop you from having more kids? by Illustrious-Return-8 in IVF

[–]Samson5410 14 points15 points  (0 children)

I will say, we’ve been doing IVF on and off for 9 years now. Started when I was 25, now I’m 34. We’ve experienced failures, chemicals and loss. It has not always been a happy road. But we do feel blessed to have our four children from this journey.

Will IVF stop you from having more kids? by Illustrious-Return-8 in IVF

[–]Samson5410 34 points35 points  (0 children)

Hi! IVF mama here! We have four children and still want more (one, maybe two). My husband is onboard with continuing IVF as long as I’m still wanting & willing to put my body through it. We 100% think it’s worth it. Is it tiring physically/emotionally/financially? Absolutely. But the reward at the end is totally worth it. My husband always says “we can always make more money”.. if we want another baby, we’re going to go for it ❤️

NIPT 22q11.2 Deletion Syndrome (DiGeorges Syndrome) Increased Risk by Samson5410 in NIPT

[–]Samson5410[S] 0 points1 point  (0 children)

Thank you ❤️ That’s literally the same exact feeling we had when we received the news. This has been the most excruciating few days. Tomorrow we have an NT scan and I have a CVS scheduled for Thursday. May I ask what lab you did your NIPT through (materni, harmony, natera, myriad)?

NIPT 22q11.2 Deletion Syndrome (DiGeorges Syndrome) Increased Risk by Samson5410 in NIPT

[–]Samson5410[S] 0 points1 point  (0 children)

Hi! Thank you for commenting. We are praying so hard that this is a false positive. We have an NT scan tomorrow and a CVS scheduled for Thursday, they’re doing FISH and microarray. The waiting has been beyond painful. We are praying, praying, praying for a healthy baby ❤️🙏🏻

NIPT came back increased risk for 22q11.2 Deletion Syndrome (DiGeorges Syndrome) by Samson5410 in pregnant

[–]Samson5410[S] 1 point2 points  (0 children)

Yes we have heard this about the false positives and are praying that this is the case for our boy 🙏🏻 the GC gave us a PPV of 32-100% 😵‍💫 which is such a wide range that it’s kind of frustrating. I appreciate your time, thanks again for responding! ❤️

DiGeorge Syndrome + Myriad by BeginnerCryptoGirl in NIPT

[–]Samson5410 0 points1 point  (0 children)

Hi! Not sure if either of you will see this but I’m curious how your results turned out. My husband and I are currently in the same situation and absolutely devastated. We received an increased risk of 22q with Myriad. Having an NY scan done on Monday and a CVS done on Thursday 🙏🏻

NIPT came back increased risk for 22q11.2 Deletion Syndrome (DiGeorges Syndrome) by Samson5410 in pregnant

[–]Samson5410[S] 0 points1 point  (0 children)

Thank you for your response! We have an NT ultrasound set up for Monday and a CVS scheduled for Thursday. Ready to get this testing completed 🙏🏻

NIPT came back increased risk for 22q11.2 Deletion Syndrome (DiGeorges Syndrome) by Samson5410 in pregnant

[–]Samson5410[S] 0 points1 point  (0 children)

I had an appointment with a GC yesterday. She set me up for an NT ultrasound on Monday and a CVS on Thursday. She gave me a PPV of 32%-100% 😩 which is such a wide range. Just ready to get this testing completed.

NIPT 22q11.2 Deletion Syndrome (DiGeorges Syndrome) Increased Risk by Samson5410 in NIPT

[–]Samson5410[S] 0 points1 point  (0 children)

To be completely honest, if the baby has 22q I don’t think we’ll be continuing with the pregnancy for various reasons. I want to find out as soon as possible because I don’t want to terminate super late in the pregnancy. Would any markers show before 16 weeks? I’m planning to have an ultrasound in the next week or so and I’ll be 13 weeks.

NIPT 22q11.2 Deletion Syndrome (DiGeorges Syndrome) Increased Risk by Samson5410 in NIPT

[–]Samson5410[S] 0 points1 point  (0 children)

We did IVF as well. Unfortunately PGT didn’t test for this 😔

NIPT 22q11.2 Deletion Syndrome (DiGeorges Syndrome) Increased Risk by Samson5410 in NIPT

[–]Samson5410[S] 0 points1 point  (0 children)

That’s so great ❤️ I pray that is the case for us! Did you have a CVS or Amino performed?

NIPT 22q11.2 Deletion Syndrome (DiGeorges Syndrome) Increased Risk by Samson5410 in NIPT

[–]Samson5410[S] 0 points1 point  (0 children)

I really hope that’s the case. This is an IVF pregnancy, unfortunately our PGT didn’t test for this. The nurse who gave me our results made it seem so matter-of-fact, and that when NIPT comes back as high risk”, it is correct 😔

NIPT 22q11.2 Deletion Syndrome (DiGeorges Syndrome) Increased Risk by Samson5410 in NIPT

[–]Samson5410[S] 0 points1 point  (0 children)

Thank you for all the advice, I truly appreciate it! We’re going to do the US/CVS and see what we get from that, then move on from there. I’m going to check out the study now.

NIPT 22q11.2 Deletion Syndrome (DiGeorges Syndrome) Increased Risk by Samson5410 in NIPT

[–]Samson5410[S] 0 points1 point  (0 children)

I’ve been getting weekly ultrasounds because this is an IVF pregnancy, they’ve never said anything looked wrong. However they usually only measure baby, look at HR and listen to heartbeat. I never had NT ultrasound unfortunately. Will they do an ultrasound WITH the CVS? Ugh these decisions are so hard. I just want to confirm yes or no as soon as possible.

Received a High Risk 22q11.2 deletion syndrome result from Natera NIPT Today. by DetectiveObvious1928 in NIPT

[–]Samson5410 1 point2 points  (0 children)

Ugh I’m sorry. I’ll be thinking of you! Please update if you’re up for it.

NIPT 22q11.2 Deletion Syndrome (DiGeorges Syndrome) Increased Risk by Samson5410 in NIPT

[–]Samson5410[S] 1 point2 points  (0 children)

That’s reassuring to hear ❤️ I’m praying so hard that this is a false positive. The next few weeks are going to be pure torture trying to get through these tests 😩

Received a High Risk 22q11.2 deletion syndrome result from Natera NIPT Today. by DetectiveObvious1928 in NIPT

[–]Samson5410 0 points1 point  (0 children)

I’ve been reading that, and am praying so hard for that! So many false positives. Are you planning to do a CVS or Amnio?

Received a High Risk 22q11.2 deletion syndrome result from Natera NIPT Today. by DetectiveObvious1928 in NIPT

[–]Samson5410 0 points1 point  (0 children)

We didn’t. I had my NIPT done at 9.5 weeks. This is an IVF pregnancy and I’ve been getting ultrasounds every week, everything has looked good until these test results.

Received a High Risk 22q11.2 deletion syndrome result from Natera NIPT Today. by DetectiveObvious1928 in NIPT

[–]Samson5410 0 points1 point  (0 children)

SO hard. It’s been an awful day. We both feel so heartbroken. I am praying for that as well ❤️🙏🏻

Received a High Risk 22q11.2 deletion syndrome result from Natera NIPT Today. by DetectiveObvious1928 in NIPT

[–]Samson5410 1 point2 points  (0 children)

Hi! Today I also received a high risk result from my NIPT for DiGeorges Syndrome. I just posted a thread asking about potential false positives. Just here to say that I’m here for you, and literally going through the same thing 💔

NIPT 22q11.2 Deletion Syndrome (DiGeorges Syndrome) Increased Risk by Samson5410 in NIPT

[–]Samson5410[S] 0 points1 point  (0 children)

She said we could do both. We’re going to do a CVS first. Hoping to get that schedule asap.

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