DNA Testing Positive for Turner Syndrome
I am hoping for some advice and or encouragement from anyone who may know what I'm going through.
At my first trimester (aka NT) screening my hCG was normal, there was a nasal bone, and the fluid behind the neck was perfectly normal. However my PAPP-a levels were very low, therefore the odds for Down Syndrome went from 1/160 to 1/80 so they wanted to do further testing.
I finally got the DNA testing results back from the laboratory today. (What a stressful 9 days! 😖) The baby is negative for all trisomies (1 in 10,000). Great! However, the laboratory thinks the baby has Turner Syndrome. 😔 [Only one X chromosome (XO) instead of 2 (XX). Sometimes it's in every cell; sometimes it's only in some of them (Mosaic Turner Syndrome).]
The genetic counselor said that the laboratories that diagnose Turners (MaterniT, Panarama, etc) usually diagnose correctly only 1/2 of the time, so hopefully it will be a false-positive in my case. I'm opting out of an amnio because I won't terminate either way, so why risk m/c.
The genetic counselor is optimistic so far since the baby's fluid levels were perfect at 12 wks. (High fluid levels are a common early effect of Turner's.) Next step is an echo-cardio at the 20-wk u/s, since heart problems are another common effect of Turners.
I'm also really worried because apparently most babies conceived with Turners end in miscarriage and I already had two early miscarriages last year. But the counselor said most miscarriages happen in the first trimester. I'm 14 wks.
I pray the baby will end up Turner-free. Or if it does unfortunately have Turners, hopefully it will be mosaic as those women seem to have better quality of life than those with full-blown turners 😔 I have one child and he has autism and it already hurts seeing him being treated differently. 😔 Life is already so hard without having syndromes. It hurts so much to think not only one of my children but both of them will be treated poorly by society bc they're "more noticeably" different. 😔😔
Thank you in advance for your help or for even just listening to me.
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