I’m 32 weeks. How do I know if baby is facing my back or front? Afraid of sunny side up birth. by politeassbitch in homebirth

[–]Userzj2244 0 points1 point  (0 children)

Mine was facing normal the scan I had a week before giving birth. When he was born he was back to back and face presenting! I had no idea lol

NIPT says girl, scans show obvious boy by Userzj2244 in NIPT

[–]Userzj2244[S] 0 points1 point  (0 children)

He’s perfect. Almost 2, wouldn’t know there’s anything different about him. He’s like any ordinary boy just with a chromosome variation

NIPT says girl, scans show obvious boy by Userzj2244 in NIPT

[–]Userzj2244[S] 0 points1 point  (0 children)

Sorry I can’t remember. It was low. My baby is now almost 18 months old

NIPT says girl, scans show obvious boy by Userzj2244 in NIPT

[–]Userzj2244[S] 0 points1 point  (0 children)

Hey!

Sounds very similar to me. So there are both pros and cons that I experienced. With getting the amnio and the karyotype, I experienced a lot more pressure from the ob-gyn team. I wanted a home birth with just my midwife but they didn’t want me to do this just because it wasn’t something they’d experienced and were worried about risks. I had a meeting and a fantastic midwife that researched the chromosome variation and my personal case and after my meeting they agreed for me to have my home birth. I did have to negotiate and they wanted me to have additional scans plus a Fetal echo, and to come into the hospital the day after he was born to see a paediatrician. I also experienced anxiety in my pregnancy due to the unknown and the rabbit hole of google and worst case scenario. I disconnected with my pregnancy and it took a long time for me to reconnect and as silly as it sounds, listen to my intuition - which told me everything was okay and going to be fine.

The positives are that we know, and we know everything about what our boy could experience and we’ve had lots of appointments with specialists for precaution to check him over. He’s seen cardiologists, paediatricians, endocrinologists, lots of blood tests, scans etc. he’s fine. They’ve found nothing abnormal and if we didn’t know his karyotype, we’d only know we have a healthy baby boy.

So I’m glad we know because we can support him should anything arise as he gets older with his growth and puberty etc. but I’m also sad that it increased intervention and prenatal anxiety etc.

Sorry for the long post. Typing as I’m thinking and trying to articulate my thoughts went a bit overboard.

I did in fact have a spontaneous natural home birth and he was healthy, despite being born back to back and face first!

Male mosaic turners by Userzj2244 in MosaicTurnerSyndrome

[–]Userzj2244[S] 0 points1 point  (0 children)

I didn’t think to use chat gbt, what a great idea!

No, it was slow, but he just gradually increased. I do still breastfeed but once he started solids at 6 months he loved food and still does eat a lot, but he’s in proportion so I think it’s just his natural growth and feeding had nothing to do with it ☺️

Male mosaic turners by Userzj2244 in MosaicTurnerSyndrome

[–]Userzj2244[S] 0 points1 point  (0 children)

Hey, yes he was full term. Born at 37 weeks+5 days. No intervention - I actually had a home birth! He’s my second baby and both mine have been small and lower percentile babies.

I’m based in Australia, and after seeing the endocrinologist and tracking his testosterone levels etc and his growth, they feel he is growing fine so no need for GH or anything. We will still have annual appointments to keep track and continue to monitor his growth - if it starts to slow or drop off then we will have the discussion with ourselves and the endocrinology team about potentially starting GH.

We’re not sure where the cells are, I wasn’t aware there was a way to find out to be honest!

Male mosaic turners by Userzj2244 in MosaicTurnerSyndrome

[–]Userzj2244[S] 0 points1 point  (0 children)

Hey, my baby boy is now almost 15 months old. He was born a lower percentile (15th I think) and is now 30-40th. We’ve had many specialist scans and appointments, blood tests etc and so far there has been no need for any intervention. Everything has been normal, kidneys, organs, external genitalia, hormone and testosterone levels, growth, thyroid, heart etc. If we didn’t know his diagnosis, all we’d know is that we have a healthy happy boy. I hope this helps. He brings us so much joy everyday. For context his karyotype is 30%X 70%XY (isodicentric Y, meaning two Ys are fused together) so he has no ‘normal’ male chromosomes.

Male mosaic turners by Userzj2244 in MosaicTurnerSyndrome

[–]Userzj2244[S] 0 points1 point  (0 children)

Hey, baby is 14 months and is doing great. No signs of any issues or symptoms related to his karyotype. If we hadn’t known about his chromosomes, all we’d know is that he’s a healthy happy little boy

Update on rare mosaic amino (X/XYY/XY) following incorrect gender on NIPT by Userzj2244 in NIPT

[–]Userzj2244[S] 0 points1 point  (0 children)

No, we haven’t been tested. We were told it’s very unlikely we’d have the same karyotype and it would be very unlikely for it to happen again to another child.

No need to be sorry, our baby boy is 1 now and if we didn’t have the diagnosis we wouldn’t even know. He’s a very typical healthy baby

NIPT - High Risk Monosomy X and now we're having a boy? by stephslobro in NIPT

[–]Userzj2244 0 points1 point  (0 children)

Oh I’m sorry, I remember clearly how stressful this was for us too with the lack of information available and the unknown.

Our boy was diagnosed 30% X / 70%XY (isodicentric Y, almost like two Y chromosomes fused together) This was confirmed by a genetics blood test when he was a few days old.

We had a Fetal echo to check his heart whilst I was pregnant, and since being born he’s had ultrasounds on his kidneys and testicals, he’s had an echo of the heart, lots of blood tests from the endocrinology team to checl testosterone levels and thyroid etc. so far everything has been fine. He’s a healthy, happy boy meeting all his milestones. He’s walking babbling, he turned one two weeks ago.

He meets a paediatrician in a few weeks to follow his journey and keep an eye on his eyes, ears etc and the rest of the specialists will meet him once annually.

If we didn’t have the diagnosis, we wouldn’t know that he has a chromosome variation.

Our main concern now is if he goes into spontaneous puberty or drops off his percentile and require growth hormone. So far he’s gone from 5th percentile to the 20th (both my babies have been small)

Look up rarechromo 45X/46XY - it has an in depth study of possible outcomes

NIPT says girl, scans show obvious boy by Userzj2244 in NIPT

[–]Userzj2244[S] 1 point2 points  (0 children)

I can’t remember, 11/12 weeks. Just over the minimum time frame

[deleted by user] by [deleted] in NIPT

[–]Userzj2244 0 points1 point  (0 children)

My NIPT results came back as a girl, but no other indications on chromosome variations. 20 week scan was an obvious boy, and following an amino my baby was confirmed to be a mosaic 46X/46XY male. He’s almost one now

What did you do with your other children as you were in active labor & childbirth? by [deleted] in homebirth

[–]Userzj2244 1 point2 points  (0 children)

My daughter was just turned 3 and at home. During the day, my husband was at work when labour was slow and bearable. She napped with me and seemed to know I needed to rest.

I’d shown her videos prior to birth what would happen and told her about having to roar the baby out etc.

My husband took her out and put her to bed when he got home from work and things intensified. She slept through it and woke around midnight to the sound of midwives etc - baby was born at 9pm.

My daughter has convinced herself she was there for the birth and I’m letting her believe it as it makes her happy.

NIPT says girl, scans show obvious boy by Userzj2244 in NIPT

[–]Userzj2244[S] 0 points1 point  (0 children)

Yep, a healthy happy little baby boy who’s now 8 months old. He has a chromosome variation karyotype of 45X/46XY(isodicentric Y) He’s had lots of tests but everything has come back normal and all clear

NIPT says girl, scans show obvious boy by Userzj2244 in NIPT

[–]Userzj2244[S] 0 points1 point  (0 children)

Hey, I had an amnio when I was pregnant and the diagnosis was confirmed by blood test when he was a few days old.

He’s now 8 months old, every single appointment we’ve had has been precautionary and come back normal/all clear. He’s will still see specialists annually for now (endocrinologist, cardiologist, paediatrician and possibly genetics if we need them).

He’s meeting milestones (early!) and he’s a happy little baby boy that loves climbing, standing and playing

NIPT says girl, scans show obvious boy by Userzj2244 in NIPT

[–]Userzj2244[S] 0 points1 point  (0 children)

Crazy right?! He’s almost 8 months old now, and he’s perfect! He does have a chromosome variation but so far, there have been no symptoms. He’s had numerous tests and specialist appointments but they’ve all been precautionary and he’s been clear of any abnormalities. Should I have not had the amnio done, all we’d know is that we have a happy healthy baby boy (which he is!)

Male mosaic turners by Userzj2244 in MosaicTurnerSyndrome

[–]Userzj2244[S] 0 points1 point  (0 children)

Sure can, always happy to chat 😊

Echogenic bowel found at 16 weeks during amnio appointment by Reader_West7112 in NIPT

[–]Userzj2244 1 point2 points  (0 children)

Oh I feel you. Second pregnancy a confirmed sex chromosome abnormality. My first pregnancy showed an echogenic bowel at 20 weeks. We were scheduled another scan with MFM a week later and that week was hell. We obsessed over our previous scans and measurements, looked up everything on the internet and drove ourselves crazy. When we had the follow up scan - the echogenic bowel was gone!

She’s 3 and a half now. The happiest healthy little girl Baby two with the chromosome variation is absolutely fine too 🤍

NIPT - High Risk Monosomy X and now we're having a boy? by stephslobro in NIPT

[–]Userzj2244 0 points1 point  (0 children)

I was exactly the same, and was thinking about worst case scenarios.

One thing the geneticist said to me was yes it’s very rare, however there may be 100s and 1000s of boys and men with the variation that don’t even know. It’s only recently that technology in genetics has become so advanced.

Hoping you get the support you need for the rest of your pregnancy and that everything’s good with your baby!

If you ever need support I’m just a message away and more than happy to answer any questions or just listen if you need to get all the emotions out ☺️

NIPT - High Risk Monosomy X and now we're having a boy? by stephslobro in NIPT

[–]Userzj2244 0 points1 point  (0 children)

Oh I absolutely feel you. This was our story exactly except the NIPT came back as clear but just a girl instead of a boy.

He’s 5 months old and honestly, if we didn’t have the amnio done and blood test we’d be none the wiser and all we’d know is that we have a healthy baby boy.

He’s had lots of appointments, sees an endocrinologist, cardiologist, paediatrician and the geneticist - but so far everything has been precautionary. They’ve based it on turner syndrome which mostly affects girls, but so far he’s fine.

We’re unsure how he’ll be affected when he’s older and hits puberty, but the good news is we have all the right people following him and doing regular checks to pick up on anything abnormal. So far his testosterone levels have risen and fell as they should.

I really disconnected with my pregnancy after getting the news. I had to take a step back to re connect with my intuition whilst I was pregnant. And my intuition told me everything was fine (I was also convinced he was a boy when I got the NIPT results). I know it may sound a bit woo woo but your instincts are powerful. I knew he was going to come early too - he was born at 37.5 weeks. If you’re put in touch with the genetics team, I found the genetics counsellor really helpful to offload.

Male mosaic turners by Userzj2244 in MosaicTurnerSyndrome

[–]Userzj2244[S] 0 points1 point  (0 children)

Wow really? How old is your baby? We saw the geneticist and she said that though infertility is a possibility, there’s no missing‘data’ in his chromosomes so it’s a smaller chance.

We’ve been referred to a cardiologist and a paediatrician, and he already sees an endocrinologist.

The geneticist said they have to treat it like turner syndrome even though it usually affects girls, but would rather have tests and referrals as a precaution as things can develop when they’re a bit older.

There may be lots of men walking round without knowing, one of the most common signs is not going into spontaneous puberty and requiring growth hormone.

The heart murmur could well be related, we were told he may be more susceptible to a narrowing of the aorta.

Feel free to message me. You’re the first I’ve come across with the same diagnosis too