Cystic Hygroma and other markers? | Bub Hub
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    Default Cystic Hygroma and other markers?

    Hi just wondering if anyone has had a baby that was diagnosed with cystic Hygroma while in the womb and if so did your Bub have any other markers and how did it turn out for you?
    I had a high nuchual at 16 weeks at 4mm and at my 21wk ultrasound got told my baby has a cystic Hygroma on the back of his neck. With 2 other markers - a small chin and an extra digit on each hand(I do have a cousin who has this)
    My amnio came back Normal for the three main trismomies. I guess I am just a little confused and wondering if anyone else experienced this and if your baby was healthy at birth?

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    I couldn't read and run. I hope everything turns out ok for your precious boy.

    My son had cystic hygromas. His nuchal fold was 5.9mm and heart rate was 198-199 at 12 week scan & just kept increasing. He was missing his whole X chromosome (so different to your boy) and sadly passed away in utero 7years ago Monday next week.

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    My LO had a cystic hygroma but as bubs grew in utero the cyst didn't so was born perfect. Had extra scans and was under fetal medicine n cardiology. Wishing you much strength and a happy outcome too. X

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    I'm so sorry you're going through this. It's horrible when a scan goes badly.

    If I were you I'd be asking for way more information than you seem to have. For example, did you know that the amnio only counts chromosomes, it doesn't check for mutations on the chromosomes?

    You have a right to information and openness. Id be demanding that you're doctors tell you what they think about this.

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    HollyGolightly81  (14-09-2016)

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    Brooke, you posted this question a few weeks ago and a few different girls responded, have you seen that thread? I can link it for you if you'd like.

    I agree with Sally, sometimes you really need to be pushy to get more answers. Have the Drs told you anymore or made a plan in the last few weeks? Have you been referred to a geneticist or genetic counsellor for more testing, to discuss results, etc.?

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    Sally1981  (20-09-2016)

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    @Sally1981 clear your inbox please

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    Sally1981  (20-09-2016)

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    @brookef - I have had a cvs and an amnio in the past 8 and 6 years ago respectively. I am thinking of having one again this time. From my discussions so far the amnio technology has advanced since I last had an amnio in 2010. With the full microarray testing they can look for micro deletions, partial deletions , unbalanced translocations and copy number variants of genes on chromosomes. So the amnio can get more than just the correct number of chromosomes. This is something that actually might stop me doing it - the radiologist said it can sometimes give you too much information of unknown significance causing stress and worry for the rest of the pregnancy.I think you should be referred to a geneticist who may be able to give you some answers or direction.

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    Quote Originally Posted by HollyGolightly81 View Post
    @Sally1981 clear your inbox please
    Only just saw this! Inbox cleared (finally worked out how to do it).


 

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