NIPT Test - Klinefelter syndrome

tonyaxxo

Hi all ! So I received a call today about my NIPT test and they told me that my test results came back with high chance of Klinefelter syndrome and I’ll need to go see a genetic specialist to do more extensive testing. 

As a first time mom I have never heard of this before and no one I know has ever heard of it before. 

My initial thoughts and reactions are of sadness and fear for what a positive test result will mean for our lives and our baby’s life. 

Has anyone heard of this before? Does anyone know of anyone else who’s had high risk and did they come back positive or negative upon further testing? 

Any insight, experience, thoughts all welcome. 

britters314

*lurking from June BMB*

The NIPT isn’t diagnostic, so there’s a chance it’s a false positive. But even if it isn’t, this isn’t something that causes disabilities or reduces life expectancy or anything. People with this syndrome can live pretty normal lives. So I wouldn’t worry too much about it right now if I were you.

brown169

@knottie224275fabac49d7e I'm not sure if my reply will be super helpful to you, but my friend's husband has Klinefelter syndrome. He's a man, but has two X and one Y chromosome. As far as I know, he's lived a normal life as a male, however, my friend and her husband ended up having to go through IVF to have their two babies. They ended up having a surprise third kid, so it turns out her husband's "syndrome" didn't really make them infertile after all. Like I said, I don't know enough about his life to know whether he was given testosterone treatments as a kid, etc, but he lives a normal life.

tonyaxxo

**Update** I had a CVS test yesterday for them to take a small piece of my placenta to do further testing and they will also be testing for things like sickle cell (my partners family has many cases) and a few other things. The test wasn’t pleasant but we’re happy to get some answers and go from there!

justganik

Hey there! Just wanted to say one of my best friends since middle school has Klinefelter syndrome. He is thriving and decided during young adulthood that he doesn’t want children so he seeks out relationships with women that have that same plan. He is one of the happiest people in my life who looks at everything with a positive outlook. Whatever ends up happening with your sweet baby know that a diagnosis (of any form) doesn’t define them