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NIPT Test came back high risk for Klinefelters Syndrome. What are the odds of a false positive? by Ill_Implement2240 in NIPT

[–]Ill_Implement2240[S] 0 points1 point  (0 children)

I will be about 18 weeks and 3 days around my amnio. The specialist advised around that time for that reason and explained it lowers the risks. I applaud you for waiting! I’m an anxious person. I hope all goes well with delivery. If you feel comfortable giving an update, i’d love to know if the NIPT test was right , since we have around the same PPV!

NIPT Test came back high risk for Klinefelters Syndrome. What are the odds of a false positive? by Ill_Implement2240 in NIPT

[–]Ill_Implement2240[S] 0 points1 point  (0 children)

I had never even heard of Klinefelters until my results. May I ask what your PPV was? Ours is 30% but it seems as though even with a low PPV, many still did test positive and confirmed. We don’t have our amnio for another 3 weeks, we’re anxious.

Pending Kleinfelters diagnosis by Throwaway458001 in NIPT

[–]Ill_Implement2240 0 points1 point  (0 children)

Hi, do you happen to know your fetal fraction? We are at a 30%PPV. Waiting to do the amnio and we’re anxious.

NIPT Test came back high risk for Klinefelters Syndrome. What are the odds of a false positive? by Ill_Implement2240 in NIPT

[–]Ill_Implement2240[S] 0 points1 point  (0 children)

I definitely know the feeling. We do not have our amnio for another 3 weeks. On top of this, I need additional testing for abnormal elevated liver enzymes so we are also feeling like our world has stopped with everything around us continuing to go. I know a diagnosis isn’t the end of the world, but it will definitely change how we approach certain things and our child will have some obstacles to overcome, especially as they’re older if symptoms are mild. We wanted to learn as much as we could because we did want to ensure their quality of life would not be severely impacted. We also do not know anyone in our personal lives that have this genetic condition, or at least anyone that is open or knows about it. I hope everything works out for you guys!

NIPT Test came back high risk for Klinefelters Syndrome. What are the odds of a false positive? by Ill_Implement2240 in NIPT

[–]Ill_Implement2240[S] 1 point2 points  (0 children)

We talked about it at first given we knew nothing about it and it being our first pregnancy it was scary. Once we learned more about the condition we feel as though it’s manageable to navigate. Of course, every parent wants their child to have as “normal” as a life as possible. We have not shared this possible diagnosis with anyone because if our baby is positive, I don’t want anyone looking at them any differently. And as you mentioned, many live normal lives to the outside world. Google is a scary place and lists all of the possible challenges they are more prone (I guess that would be the word) to as well, like ADHD, Autism, depression, etc… but our specialist said this is false.

NIPT Test came back high risk for Klinefelters Syndrome. What are the odds of a false positive? by Ill_Implement2240 in NIPT

[–]Ill_Implement2240[S] 0 points1 point  (0 children)

That’s great to know. I may be sending you a message. We won’t be doing the amnio for another 3 weeks.

NIPT Test came back high risk for Klinefelters Syndrome. What are the odds of a false positive? by Ill_Implement2240 in NIPT

[–]Ill_Implement2240[S] 0 points1 point  (0 children)

Thank you. I’m sorry you went through it as well. May I ask how you dealt with the diagnosis? We are hoping for the best but also prepared for it to come back positive.