so upset after 20 week scan..

[BunnyN]

I really feel for you. You are in such a stressful position. As far as the amnio goes I think you have to decide what you feel most comfortable with. If you feel comfortable with the small risk and feel the information you will gain is important enough then it doesn't don't be affected by how others feel. On the other hand if you decide not to have one that is a good choice too. Sometimes docs can be a bit pushy about getting one. It's you who has to live with it whatever you decide.

I hope they are helpful with the information they give you. And you can get at least some of your questions answered.

Hugs

 

[KHTW]

Best of luck for today x

 

[Shanivy]

Good luck today hun xx

 

[sunseeker]

xx

 

[MariaIsabella]

Thanks ladies,

My appointment is this afternoon so will update after.

Was thinking how all this happening is just coincidences:

1. If I wouldn't have had the Harmony done ( which most people don't ), baby would have been just a normal baby girl and nothing else would have been done since there are no chromosomal abnormalities seen.

2. If I would have been scanned by someone else or the day after on my 20 week appointment the brain would have been normal and no MRI or further investigation. The sonographer thought she saw an abnormality which was not there and the MRI picked up a slightly short Corpus callosum which could be due to it not being done growing. The corpus callosum is not even part of the anomaly scan and the consultant even told me he would have sent me off as normal if I would have come in for a scan the first time.

Sometimes I just wish I never had the Harmony and was scanned by someone else and I could have had a stress free pregnancy!! xx

 

[GBLiz]

i know how you feel, i had growth scans at 28 and 30 weeks which caused all kinds of drama and i was in hospital twice a week with threats of very early induction but at the 32 week scan things were normal again! if i'd never had them there wouldnt have been any stress!

 

[Shanivy]

The harmony certainly has a lot to answer for...what's done is done though. I really hope by this afternoon you can go back to having a stress free pregnancy. Fx for you xx

 

[TS1982]

Best of luck today xx

 

[_GG_]

Best of luck for this afternoon Mariaisabella. I totally love your last post. Sounds like you had a bit of an epiphany about how much you've been messed around unnecessarily. Really hope you have a good, positive appointment. Xx

 

[MariaIsabella]

Had my appointment and think I will skip the amnio. The consultant went through all different scenarios and worst case scenarios but its highly unlikely worst case would happen because of the normal scans I have had. More likely its a XY girl ( comes with infertility and other things but nothing very sinister), a mosaic fetus/placenta or normal XX ( vanishing twin ).

The amnio would give me clarity of sex chromosome issues, a disorder which I would not do anything about anyhow, so not sure if worth it. More info would stress me out even more so think I will leave it until baby is born.

Thanks for all your support and will be so interesting to see if/what is happening when baby is born! xx

 

[_GG_]

i know how you feel, i had growth scans at 28 and 30 weeks which caused all kinds of drama and i was in hospital twice a week with threats of very early induction but at the 32 week scan things were normal again! if i'd never had them there wouldnt have been any stress!

Had my appointment and think I will skip the amnio. The consultant went through all different scenarios and worst case scenarios but its highly unlikely worst case would happen because of the normal scans I have had. More likely its a XY girl ( comes with infertility and other things but nothing very sinister), a mosaic fetus/placenta or normal XX ( vanishing twin ).

The amnio would give me clarity of sex chromosome issues, a disorder which I would not do anything about anyhow, so not sure if worth it. More info would stress me out even more so think I will leave it until baby is born.

Thanks for all your support and will be so interesting to see if/what is happening when baby is born! xx

I am.so so happy you've come out of that appointment with a definite decision and confidence in it. I am so sorry you have had to go through any of this. Hope you claw back some enjoyment in you're pregnancy from now going forward xxx

 

[Shanivy]

Ah I'm so glad you've come out of your appointment with good information and it sounds like you're feeling a lot more positive about it all. You have your viable options now and all you can do is look forwards. I hope baby comes out a perfectly healthy happy little girl. But at least you know there's only a very tiny chance of anything majorly life threatening as an option from the harmony result. Take care of yourself and bump for now xx

 

[MariaIsabella]

Just an update on this in case someone is ever in the same situation. Asked the laboratory of the possibility for DNA of a previous miscarriage or of a possible vanished twin to be picked up at 20+ weeks and got the below reply. Seems quite unlikely that's the explanation.

Just have to be prepared there is a big chance the baby has a sex chromosome disorder. Hopefully nothing too serious but we will see when baby is born.

One thing we can say for sure is that the Y chromosome material being identified does not come from a previous pregnancy as any cell free DNA is cleared from the maternal blood within hours of birth or pregnancy loss.

As the cell free DNA comes from the placenta, the associated placental tissue will continue to shed cell free DNA reflecting both twins genotypes into the blood.

As the placenta from the ongoing twin grows this will ‘drown out’ any co twin cell free DNA at some point. Evidence has shown cell free DNA persisting for at least 12 weeks in some cases.

If there was a really early fetal demise of a co twin before your first scan at 7 weeks it would seem less likely that there was sufficient cell free DNA still present to be causing a false sexing result at 20 weeks but it would be impossible to rule this in or out as an explanation.

 

[Mexico2014]

What ever happens they will be your bundle of joy and you will love them no matter what. Good luck lovely hope it all works out perfectly for you xx

 

[MariaIsabella]

Update:

My daughter was born on the 30th of July 14 days overdue. It was a long labour but she is absolutely beautiful and perfect.

Wanted to update you regarding the gender dna issue in case someone ever is in the same situation. They took core blood after birth which came back after a couple of days confirming xy sex chromosomes. This was a bit hard to take since she looks completely normal girl. She most likely has a condition called Androgen insensitivity syndrome ( AIS ) but still waiting for scans and more tests to confirm.

This most likely means she will be healthy and live a normal life as a girl but might not be able to go in to puberty without hormone treatment and most likely will not be able to have children on her own..

Bit heart breaking but most important is she is very healthy and happy baby!

Will keep updating xx

 

[Akua]

Thank you for the update - I’ve been thinking about you! Congratulations on your daughter and sending you both best wishes for the future

 

[Shanivy]

Lovely to hear from you! Congratulations on your little baby girl. I'm sure it was a little hard to take regarding her fertility etc but I'm glad she's happy and healthy. Good luck to you both wish you all the best for her xx

 

[TS1982]

Thank you for the update massive congratulations so glad she is happy and healthy hun x x

 

[Jo1977]

Hi MariaIsabella - really happy to hear your baby is happy and healthy... just to clarify, your child is genetically male (but phenotypically/looks female). It may be helpful to speak to other parents of intersex children (the old term was 'hermaphrodite' but is a poor definition), and intersex children and adults... to hear their experiences. Many intersex people feel gender dysphoria and suffer emotional issues growing up because the parents 'decided' a gender for them, rather than letting them choose when the time feels right. It's a super difficult position to be in (I don't envy you!) and there's definitely no easy answer, but learning more can only help you

I have a few intersex friends, and I met a couple recently who are raising their child without a named gender (letting them choose later).. they just use the toddler's name rather than she/he when speaking to others. Though I'm not sure if it's because the child is intersex or if they're just progressive!

 

[Princess81]

Congratulations on your little girl xx