Hi everyone. I'm new to 'Mumsnet' and if this is posted in the wrong place then please accept my apologies. I've actually posted this message in several places already but desperate to know of anyone who has had this diagnosis before. At our 12 week scan we found out our baby had a high nuchal fold measurement and we were referred to the FMU unit for a CVS. The following week we found out our daughter had this very rare chromosome disorder. We were given an appointment with the Genetics team the following week and advised to do our own research beforehand. Through our research we found out just how rare this condition is (less than 25 reported cases in the world according to a report from 2004!!) and despite the lack of information about the condition long term the future didn't look good. We were absolutely heartbroken to read this. Through facebook I found a lovely lady in the USA whose daughter had the same condition and whilst she loved her daughter so much it was clear just how much care she required and how poor her health was. When we had our appointment with the Genetics team I think we actually knew more about the condition than them!! What they did say though was that there is not enough information about the condition and our daughter would never be able to have a normal life. We decided to not continue with the pregnancy. Life's hard enough at times and watching my little girl grow up with an uncertain future was not what we wanted. Two days later the pregnancy ended. This was just over a week ago and whats followed since then is such guilt and anger at the world that we were put in this position.
I do know what I did was the best for everyone; its just gonna take a while to heal and already I want to be pregnant again but so scared it will happen again and I'll have to go through this horror once more. I don't want to end my pregnancy days like this. We're not going to rush into anything straightaway but I'd like to think I will have the courage to try again. I've contacted the Genetics team today to find out if there is any additional testing they can do to find out if I'm high risk for Pentasamy X but I honestly don't think they'll have an answer for me.
If anyone else has any knowledge of Pentasamy X I would be so grateful if you could share it or your story with me. Especially anyone else who had this in a previous pregnancy and then went on to have a healthy child. Thanks to anyone who reads this.
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Antenatal tests
Pentasamy X (also known as 49 XXXXX)
Lucky3878 · 21/02/2014 21:53
I'm so sorry 
what a horrible shock and a hard decision to make
Bumping this post in case anyone affected by a diagnosis of Pentasamy X. We're in the 2ww of our first month trying to conceive again and I'm terrified!. I'm desperate to know of anyone else who has been affected but then gone on to have another daughter who doesn't have the condition (condition only affects girls). The Genetics team have advised I'm high risk but so little information out there about the condition and of any siblings worldwide. I know if we don't try again I'll always regret it but would hate to have to go through this again 
Oops I meant to say I'm considered 'higher risk' than normal and I'm assuming thats because they don't know enough about the condition. I did read somewhere though that your odds of a chromosome disorder are slightly higher if you have previously been affected????? They haven't carried out any genetics testing. I have 2 healthy boys already and from my own research I think if I was a carrier my boys would have been affected by the male version (tetra x) Very complicated (and hope I've got this the right way round) but the XXXX chromosomes come from me (3 extra x's!) and either an x or a y chromosome which determines sex would come from dp. So by my thinking if its genetic I would always pass on those 3 extra chromosomes. But my boys are fine and when I mentioned this theory to the geneticist I just got a symphathetic shrug. I'm hoping it was a one off....... I'm so sorry to hear about your loss but glad you're blessed with healthy children now. Thanks for your reply and your story 
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