so upset after 20 week scan..

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

 

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

 

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.

 

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