After 3 earlier miscarriages, finally pregnant at 12 weeks now. Unfortunately NIPT came back with high risk for Monosomy X. Waiting to get an appointment with MFM. Heartbroken and have no clue what to do. Anyone who went through this?

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“While Turner syndrome can lead to a slightly reduced lifespan, individuals with the condition can often expect to live a near-normal life with proactive medical management”

We got a call a day or two after getting back home from the hospital after giving birth to our son, they let us know that one of his newborn screening tests came back borderline, and that we had to get him retested. We did, and it came back with a potentially serious diagnosis. We found THE expert in this condition and have been receiving the best care, we’ve also been able to join a research study which means that all of our visits are covered. We have been following their advice and monitoring his situation, and so far he has been absolutely perfect and may never develop serious symptoms, but he gets MRIs twice a year to monitor just in case.

I say this to say that although not ideal, this does not sound like a debilitating disease which would severely impact her day to day. You may still have a healthy happy baby.

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Did you have a NT test yet and were any physical markers of cystic hygroma detected? Are you short? If the baby is looking normal and you are short, you could have a low mosaic case of Turners which would also explain your miscarriages. The NIPT could pick up on your mosaic missing X cells. I know this because this is my diagnosis. My daughter is fine and has a normal karyotype and I’m glad she won’t have to be labeled with infertility like I was.

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Oops, meant 46XY for my husband..

Thank you so much!

I’m sorry to hear that. While this is not the ideal situation, know that NIPT is indicative. Wait for the MFM who may counsel you to do an amino which will give a diagnostic result. Sending my prayers and positive thoughts your way!!

Sure thank you so much!

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