MATERNAL & CHILD COMMUNITY
Trisomy 18

Trisomy 18

At 12 weeks my baby had Cystic Hygroma, so we had a CVS done. The CVS results came back 46xx normal. I gave birth 10-30-07 to a 3 pound six ounce baby girl at 37 weeks.
My little girl has a cleft lip, VSD, PDA low set ears strawberry shape head, small mouth, small eyes, webbed toes, and other abnormalities.
The doctors ran another chromosome test, this test came back that the baby has Trisomy 18.
How is it possible that the CVS done at 12 weeks comes back normal and this test comes back with Trisomy 18.
I thought the reason of the CVS test was to discover such chromosome abnormalities.

Please help

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Avatar_f_tn
The CVS testing should have picked up on the trisomy 18. Like all tests, I'm sure they have their failure rates. I'm sorry to hear about your little girl.
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172023_tn?1334675884
If the CVS accidently picked up maternal chromosomes, it would show your karyotype and not the baby's.  I'm not sure how often this happens.

Check back or watch this discussion.  I'll see if I can ask some of the high risk docs at work.  
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156876_tn?1218634948
Have the doctors given you any feedback regarding the CVS results and the outcome?  What can be done for your daughter at this point to improve her quality of life?
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Avatar_m_tn
feedback from the doctors is grim. she only has 95% chance of making through her first year, 50% chance of making through first two weeks. Quality of is pain management.
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156876_tn?1218634948
I am sure you are going through a lot of mixed emotions.  Your family is my prayers.
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161782_tn?1201221532
I'm really sorry that you and your family are going through this.  My prayes go out to you.
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Avatar_f_tn
I have no answer to your question but I just wanted to say that you and your little one are in my prayers.  I'm sorry your going through this. It's unimaginable.  We're alway here if you need support.
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151154_tn?1208134182
I echo what newbie said.  No answer, just sympathy
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