Wednesday, July 18, 2012

Ultrasound finding: Choroid Plexus Cyst

Today was my belated 20-week OB appointment where we went over Friday's ultrasound images. As I mentioned in my last post, Lil Arch is measuring right on schedule except for some really long legs. Baby is weighing in at 380g (13.4 oz)... as heavy as a bag of chocolate chips. Even though the lil one got a pretty good bill of health, we were informed that a Choroid Plexus Cyst was spotted in the brain.

Uhhh, talk about a major freak out as she's explaining the cyst and all the scariness that could go with it using only the biggest terms possible. Thank God Clay was there to hop on his phone and start deciphering what she just told us. For family and friends who are curious, I'll save you the trip to Wikipedia:

What is a choroid plexus cyst?
The choroid plexus is the area of the brain that makes fluid to protect the brain and spinal cord; this area does not involve thinking or personality. When a tiny bubble of fluid is pinched off as the choroid plexus forms, a cyst is created. This occurs in 1-2% of babies during the 16-24th week of development. Thankfully, choroid plexus cysts are NOT harmful to the baby and they nearly always go away by the third trimester.

When choroid plexus cysts (CPCs) are found during an ultrasound, the tech will carefully scrutinize every organ and body part to look for other abnormalities, such as a deformed heart, head, hands, feet or stunted growth of the baby. If no other abnormalities are found, the diagnosis is called an "isolated CPC."

Baby Arch has an isolated CPC... as far as we know.

CPCs have become associated with a severe genetic disease called Trisomy 18. The vast majority of fetuses with isolated CPCs are completely normal, but when CPCs are seen, the chance of Trisomy 18 goes up (the risk is 1 in 300.) Fetuses with Trisomy 18 have an extra copy of chromosome 18, and frequently, are stillborn. Survivors beyond infancy are rare. Survivors have severe mental retardation and a variety of other problems including abnormalities of almost any organ system such as the heart, brain and kidneys. Fetuses with Trisomy 18 have choroid plexus cysts about a third of the time. Therefore, when a cyst is detected, there's concern it could be linked with the disease.

What's next?
The next step for us and Baby Arch is to have a Level II ultrasound which is scheduled for August 8. There's a chance that by then, the cyst will have gone away on its own. I've also read that a normal alpha fetoprotein (AFP) test further reduces the likelihood of Trisomy 18. However, I have no idea what that test is and haven't discussed anything further than an ultrasound with my OB. If the cyst is still there during the ultrasound, an amniocentesis can be performed to verify if there's an extra chromosome 18. I am, however, extremely against having an amnio due to the miscarriage rate of 1 in 250. Most experts, on the topic of CPCs, suggest not getting an amnio because they wind up losing more normal pregnancies... than you will find Trisomy 18 babies.

An unsuccessful second ultrasound can also bring on the "wait and see" game. Generally, doctors will track the progress of the fetus through several follow up ultrasound exams. Most CPCs will resolve on their own by the sixth month of pregnancy, and a definitive exam of the baby's health can be made after the birth.

Baby Arch - 20 weeks

Phew. It's such a weird feeling to go from the relief that you can see four moving limbs and a wiggly baby on the ultrasound to hearing that there's a problem. Even though the chances of the CPC not resolving on its own are so very small, it's emotionally draining to sit here and think about it. My heart goes out to mothers and families who find out much worse things. So yeah, for the next three weeks, I will attempt to fail at keeping my mind off of it. If everyone could throw out an extra lil prayer for the long-legged goober, we'd appreciate it. XOXO

7/24 update: Thankfully my sister works at the Helen DeVos Children's Hospital and has an unlimited supply of doctors and specialists at her disposal. The day after we found out about the CPC, she spoke to a pediatric neurosurgeon at work. She said he was immediately a little frustrated that doctors even have to tell patients about CPCs at all. He said the odds of them going away by the end of the pregnancy are so great that it causes "a lot of worrying over nothing." HA! Obviously he's not a pregnant woman. My OB said most go away by week 24 and the neurosurgeon said probably not until week 36. So I guess I'm going to prepare myself that it still may be there at my next ultrasound... and that I shouldn't be any more alarmed.
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