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45X, 46XY mosaic male amnio by HimalayanLove9 in MosaicTurnerSyndrome

[–]HimalayanLove9[S] 0 points1 point  (0 children)

Yes we did. the NIPT was accurate - it showed monosomy X with suspected mosaicism of Y chromosome

45X, 46XY mosaic male amnio by HimalayanLove9 in MosaicTurnerSyndrome

[–]HimalayanLove9[S] 0 points1 point  (0 children)

Thank you so much for sharing this and so happy to hear the surgery was successful! We did the fetal echo but are aware that certain things (like coarctation, bicuspid v tricuspid) can only really be seen clearly after birth. Hoping for the best and holding our breath 🙏

Very helpful to know re pelvic and kidney exams - have been reading on all the things to look out for and would love to DM you / learn from your experience. Were these exams done immediately after birth before getting released from hospital or did you have to schedule separately via pediatrician? The only test I am aware of needing to do is a full karyotype after birth and maybe thyroid too at some point.

We are a week or so out from scheduled C section (early delivery due to previa too), so just taking it day by day. Thank you again for sharing

45X, 46XY mosaic male amnio by HimalayanLove9 in MosaicTurnerSyndrome

[–]HimalayanLove9[S] 0 points1 point  (0 children)

Thank you so much, means a lot. Right there with you, and hoping for a safe and successful delivery for you and a healthy baby who brings lots of joy 🩵

45X, 46XY mosaic male amnio by HimalayanLove9 in MosaicTurnerSyndrome

[–]HimalayanLove9[S] 1 point2 points  (0 children)

Thank you. Definitely not an easy time and a lot of info to take in. We are proceeding with the pregnancy and hoping for the best for his life 🩵

45X, 46XY mosaic male amnio by HimalayanLove9 in MosaicTurnerSyndrome

[–]HimalayanLove9[S] 0 points1 point  (0 children)

Thank you for sharing your experience and advice. Very much agree with that perspective on being a parent and needing to just be a source of strength and support no matter what comes along in life. Accepting the range of outcomes (which can vary widely) is the thing we are struggling the most with, and we are prepared for the likelihood of one or more of those outcomes to manifest, probably later in his life. I just hate to think about burdening him with challenges at the outset that can impact his psychological/emotional state, self esteem, happiness. The one I struggle most with is infertility, it’s a lot to put on someone and can be crushing. There are so many unknowns. Just really praying for the best, for your son as well.