thread: ttc after baby with genetic abnormalities

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  1. #1

    Apr 2009
    central coast
    2,298

    ttc after baby with genetic abnormalities

    I never thought it would happen to me i always read these sites and thought how lucky i was to have three boys but as it turns out here i am my boys were from my 1st marriage and after many years and a nasty divorce i found the love of my life who has a daughter from his 1st marriage we wanted a baby together and at 34 and 36 decided to try right away it took five mths to fall pregnant and we were over the moon until my 12 week scan showed a nuchal fold of 4.8mm and with the blood test were given a 1 in 2 chance for downs syndrome we had a cvs which came back all clear so we relaxed and done up the babys room as we found out i was having my 1st girl we were told to have a scan at 15 to 16 weeks to check growth and the heart this is when they told us our daughter has skeletal dysplasia we then went for a second oppinion at newcastle ultrasound for women they were fantastic and honest and told us everything they could see our daugther diddnt have skeletal dysplasia but had polydactlyl of the hands and one foot and hypoplastic left heart and was small for dates we were then referred to the RNS fetal medicine unit and westmead to be told our baby has no chance of survival and it looks like a rare gentic fault we were told the best thing was to terminate the pregnancy at 19 weeks 5 days it was the worst day of my life and the hardest thing i have ever done i was induced and our daughter abbi christine was born sleeping she was beautiful and perfect in my eyes we wanted answers so agreed to an autopsy which showed that she had major abnormalities from head to toe which gave me some peace that i made the right choice we are still waiting to find out if we are carriers of the same faulty gene or if it was a one off accident so far they havnt found anything we had abbi cremated and brought her home and are about to start trying again but i am terrified it will happen again cause if we are carriers we have a 1 in 4 chance it will happen again they said they can look for some abnormaliteis at 11 to 12 weeks with ultrasound but until they find the gene they cant test for it with cvs or amnio were crossing our fingers it was a 1 off accident
    sandra

    Ds15 Ds13 Ds11
    Abbi born sleeping20/3/09 19w5d
    Last edited by ferrals5; April 24th, 2009 at 09:06 PM.