Fruit of the Womb
Fruit of the Womb

Choroid Plexus Cysts - Again!

The following comment was left on my last post in which we responded to a patient's concern that she should have an amniocentesis done because her baby might have a chromosomal abnormality due to her age alone risk despite the fact that she also had very reassuring first trimester risk assessment for aneuploidy. No one can make the final decisions in these circumstances except for the patient, but for her to do so in a way that makes her comfortable with the final decision, we must be careful as counselors to provide accurate information. The situation below reflects a common one (a daily event in my practice) in which the presence of one of the VERY 'soft' markers for fetal chromosomal abnormality creates considerable (and, in mind, unnecessary) anxiety for this woman and countless other patients...

Anonymous said Fri Jan 25, 10:21:00 AM 2008...

Just read the previous message with regard to previous lost pregnancies and age. My situation is similar in that I am 42 with 3 lost pregnancies in the last 10 years. We were not really trying to conceive except for the 1st pregnancy in 1997 which resulted in about 18 hrs of labor in an ER in my 3rd month. Anyway, surprise to us we became pregnant however the baby turns out, having an amniocentesis or any other genetic testing is irrelevant. Now at 19 weeks we had a 2nd ultrasound and my baby was found to have a Choroid Plexus Cyst – one measuring approximately 11 x 7 mm. The doctor told my husband & I that it is relatively a small cyst and located in the skull/brain area that is where fluid usually resides but this fluid developed tissue around it forming a cyst. She said that if the next ultrasound in 2 months shows any other genetic markers (as no other markers were found at this time) then she would insist on full genetic testing, ie amniocentesis, etc. I don't know much about that sort of testing as I have never gone through it. But how can she insist on it??? It's my baby. If I want to know in advance then that would seem to be my decision. The baby will come out either healthy or not and my husband will love & take care of him (it's a boy by the way) the best we can afford to. So who is she to say that she will insist?? All she is doing by running those extremely $$$ expensive tests is to take money out of our pockets that we will need for our new baby. Unfortunately, like many Americans we have very lousy insurance. It was great when we lived in CALIF and even in AZ, but here in Nebraska where insurance companies don't care to compete, the insurance plans just are lousy-unless one works for the railroad or the hospital. *** Just wanted to know your thoughts on this matter and I don't know much about Choroid Plexus Cysts. Thanks from a Housewife in Scottsbluff, NE

Kenneth F. Trofatter, Jr., MD, PhD said...

To Anonymous Jan 25: Your doctor cannot INSIST that you have an amniocentesis (or any other testing) done and you always have the option to find another one if that's the way she/he deals with sensitive situations like this. I have said this before and I will say it again, the diagnosis of 'choroid plexus cysts' and labeling these as an "ABNORMALITY" is one of the greatest disservices ever done to obstetrical patients. I have known women who have terminated perfectly healthy babies (without even having an amniocentesis done to determine the fetal karyotype!) simply because they were told the baby had CPCs and could be at higher risk for a chromosomal abnormality. Personally, I consider 99%+ choroid plexus cysts to be a NORMAL DEVELOPMENTAL VARIANT and many around the world have come to the same conclusion (Bethune, Australas Radiol 2007;51:324-9).

Early studies did show that babies with trisomy 18 have a high rate of choroid plexus cysts (CPCs), but the opposite is NOT TRUE - in other words, MOST BABIES with CPCs do NOT have chromosomal abnormalities (and most babies with trisomy 18 have LOTS of other things wrong with them that would have led to that diagnosis anyway). I counsel patients in whom we find CPCs (and frankly, I wish we didn't even have to tell them, and sometimes I don't) that in the presence of normal fetal growth and in the absence of a MAJOR fetal abnormality or a significant 'marker' for chromosomal abnormality (such as a thickened nuchal skin-fold) the overwhelming odds are that the baby is chromosomally normal and no amniocentesis or other genetic testing is necessary (Ouzouniau, et al., Am J Obstet Gyneecol 2007:196:155). That does not mean, however, I won't do it if that's what they want to have done. Incidentally, most CPCs will be gone by 24-26 weeks and no one has ever shown that the common CPCs that we see are associated with ANY long-term problems for the baby by themselves (DiPietro, et al., J Perinatol 2006;26:622-7).

Take a deep breath, relax, and enjoy the rest of your pregnancy. Stress is more likely to harm your baby than the CPC! Thanks for reading and let me know if I'm wrong!
Dr T
Fri Jan 25, 11:50:00 AM 2008
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