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At 21 weeks, a routine ultrasound revealed that my baby has a unilateral choroid plexus cyst in it's brain. The first scan did not identify any other physical anomalies. My midwife has suggested that I undergo another ultrasound for a more detailed check. I am not a big fan of ultrasound testing, and I'm wondering about the advantages of further screenings. I read that there is a weak association with CPC's and Trisomoy 18 or Trisomy 21. Because there is no cure for either condition, what good does further testing do? Is it simply to alert the parents to a potential future condition? Besides that, I'm not convinced that there is anything to be gained by pursuing this any further. Is the presence of a choroid plexus cyst more ominous than I think?
You sound well informed. Generally speaking, an isolated CPC is a "soft marker" for trisomy 18 or possibly 21. This suggests it is found commonly in normal babies, but more commonly in babies with abnormalities. In the setting of an otherwise normal ultrasound (and if obtained, normal maternal serum markers--i.e., quad screen or first look) there is very little to worry about. We offer all of our patients genetic counseling in this situation and afterwards there are some who might desire an amniocentesis to assess the fetal chromosomes. Although, an amnio has its own associated risks to a pregnancy (e.g. ruptured membranes, infection, pregnancy loss).
If genetic counseling (to discuss this issue more fully) is available you may want to consider that option.
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