u/JanisBJoplin

I know since 26 weeks pregnant that my baby is mosaic TS (mos 45,X[36]/[46,X,i(X)(q10)[29]) so partially a monosomy, partially an isochromosome (that's the karyotype I received after my amnio at 23w) I was overwhelmed but accepted it fast, since the doctors couldn't see anything else wrong with her (except she's on the smaller side, around percentile 13).

At a mfm scan 2 weeks ago the doc said her aorta looks a little off and referred me to the best doctor for fetal echocardiograms, and I went today...and the diagnosis of CoA was confirmed. Truly I've never been so devasted in my life, I can't stop crying since this afternoon 😭

It's my third child and my favorite motherhood thing is breastfeeding, I adored it with my first 2, but if she'll have surgery, I don't know if I can keep up with pumping until she's well enough to nurse herself. (My let-down at pump was always so bad, I couldn't get anything down, only the baby could).

I feel so bad all over again, I just accepted the TS dx, but this feels too heavy and too real 🥹

Do any of you have positive stories about CoA to share?

I'm terrified I'll be a wreck, waiting for her to come home ... (I live in Eastern Europe, the capital of my country, they have good hospitals but not one where they operate newborns in the same building with the maternity, so she'll have to go with an ambulance to a special heart hospital for babies). The specialist told me today it's possible she won't need surgery, but the numbers did look bad for the moment 🥹

I also have so much to manage with my 2 other kids, this year they both have tough school years, the eldest with exams and such, and I wanted to be there for them, but instead, I'll be a trainwreck.

Tbh this pregnancy was a total surprise at an older age, but I thought it's a blessing. All these problems just hit us in full force and I'm not ready....

Hey! I am 27 weeks pregnant and after some stressful weeks I received the karyotype of my baby girl : mos 45,X[36]/[46,X,i(X)(q10)[29]

I understand that 55% of the cells are missing the second X completely, while the other 45% are abnormal (isochromosome) with one deletion and something else. Very hard to hear, basically none of her cells are complete 😕

Do you have experience with a similar karyotype? Can you guide me, reassure me, maybe?

I feel like I cannot enjoy this pregnancy 😭 I didn't have issues at the ultrasounds, except a single umbilical artery, and she's smaller than her gestational age (with about 2 weeks) and I'm being monitored for growth restriction 😕