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I am a 38-year old woman. After two tries of ICSI I am finally pregnant and at 11 weeks.
Yesterday I went to a detailled 1st Trimester check in a specialist clinic for pre-natal diagnostics and our Fetus was diagnosed with Trikuspidal-Regurgitation, Ductus Venosus (A-Wave):negative, generalised Skinoedema and a cystical Hygroma.I had a Chorionic Villus Sampling done and will have my results on Monday. We were given a 1:5 Chance for Trisomie 21 and 1:20 for Tr 13/18 and a suspected Turner Syndrome Due to shock we didn`t ask the quistions we wanted to ask. In some cases we have read that this can right itself later on? could that be true for us?
How sure are those results in such an early fetus?
How sure will the results of the CVS be? Can one tell the gravity of abnormalities at such an early stage? Is there any hope?

Thank you very much in advance for your answers.

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replied January 30th, 2010
Parenting Community Answer A9639
Hi, and thanks for your medical question on eHealth forum!

Well, the situation is pretty tough indeed. Examination of the ductus venosus waveform at 11-13 weeks by scanning is a major tool in screening for both chromosomal abnormalities and major cardiac defects. Hence the answer to your question is yes, at 11 weeks you can know if there is a defect. In your case it is negative.

Other defects such as Tricuspid-Regurgitation, generalized Skin edema and a cystical Hygroma, a 1:5 Chance for Trisomy 21 and 1:20 for Tr 13/18 and a suspected Turner Syndrome will have to be further followed up with other tests, genetic studies to know how safe your baby is.

Please make a list of all questions that come to your mind now. On your next visit ask for clarifications. Hope this helps. Take care!

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