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Choroid Plexus Cyst
Written by Ed Jr.   
Tuesday, 06 December 2005

Up until recently I never knew Choroid Plexus Cysts existed, or that a CPC could effect me/us.

That all changed a couple of days after Mary's ultrasound when she was notified that they saw a Choroid Plexus Cyst in our Baby Girl's brain. Apparently CPC's are fetal markers that a Chromosomal defect could be present. All Mary and I knew was that the Doctor found one, Mary's at a slightly higher risk, and we needed to schedule a level 2 ultrasound.

Keep in mind, Mary's Quad Check came back negative and the level 1 ultrasound looked great (coming from a layperson). When Mary called to tell me that they found a CPC, I was concerned to say the least.

Throughout all of Mary's pregnancies, I've refused to believe anything other then positive thoughts. We went through a similar situation with Isaac, we'll just have to do the same with our little girl to come.

I refused to do any research on CPC's and would just wait for the doctor to tell me what was going on with our girl.

Needless to say, as the ultrasound got closer, our worries grew.

Today, a day after the level 2 ultrasound I'm happy to say, my mental state is back to "normal". The CPC has gone away (which it will) and the level 2 ultrasound could not find any other fetal markers that would signal chromosomal abnormalities.

This does not mean that chromosomal abnormalities  don't exist, this just means that we are at our inherent probability of a 99.5% chance that we will have a child without chromosomal abnormalities. Sure, we can get a 100% correct answer, but that would require and amniocentesis. That would then mean we would have a 0.5% chance of losing the baby, even if free of any chromosomal abnormalities.

We sat on the same Probability Pyramid with Isaac. Our mentality is the same now, as it was then. Why take a 0.5% risk when you plan to have the baby with our without a chromosomal defect.

As the doctor told us, we're "Logically Consistent".

What is the choroid plexus?

The choroid plexus refers to the area in the brain which makes the fluid that bathes the brain and spinal cord (cerebrospinal fluid). The choroid plexus is not an area of the brain involved in thinking.

What are choroid plexus cysts?
Choroid plexus cysts are fluid-filled spaces in the choroid plexus. They are seen in about 1% (1/100) of all second trimester ultrasounds. Choroid plexus cysts may be seen in one or both sides of the brain. The number, size, and shape of the cysts may vary. Choroid plexus cysts are also found in healthy children and adults.

The chance that a fetus with isolated choroid plexus cyst(s) has Trisomy 18 is felt to be about 1% or less if the rest of the ultrasound exam was normal. This means that there is a 99% or greater chance that the fetus does not have a chromosome abnormality. Choroid plexus cysts do not cause Trisomy 18: rather, they are a sign that the fetus may have a somewhat higher chance of having that condition.

What are chromosome abnormalities?
Chromosomes are the packages of genetic information found in every cell of the body. They contain genes that are responsible for growth and development. Normally there are 46 chromosomes in every cell. Extra or missing chromosome material almost always causes mental retardation and physical abnormalities. Chromosome abnormalities are usually the results of an accident of nature and there is nothing that you can do to cause them or prevent them from occurring. Chromosome abnormalities cannot be fixed or cured by medicine or surgery. Every woman has a risk to have a baby with a chromosome abnormality, but the risk increases as a woman gets older.
Trisomy 18 occurs when there is an extra copy of chromosome 18. Many fetuses with this condition die before they are born. Children with Trisomy 18 are severely mentally retarded and may have many physical birth defects. Most children with Trisomy 18 die before 1 year of age.

Can ultrasound detect Trisomy 18?
Ultrasound allows us to see some physical birth defects in the fetus. Most, but not all, babies with chromosome abnormalities have birth defects that can be seen on ultrasound. Although a normal ultrasound is reassuring, it does not guarantee that there are no birth defects or mental retardation.

How are chromosome abnormalities diagnosed?
A test called amniocentesis can tell with over 99% accuracy if the fetus has a chromosome abnormality.
During an amniocentesis a thin needle is inserted through the woman’s abdominal wall into the uterus under ultrasound guidance. A small amount of the fluid surrounding the baby is removed. Fetal cells from the fluid are grown in the laboratory and the fetal chromosomes are studied. The results are usually ready in 2 weeks.
Amniocentesis, when performed between 15 and 22 weeks of pregnancy, has a 1/200-1/300 risk for miscarriage or serious complications. This means that over 99.5% of the women who have this test will not have any pregnancy complications because of this procedure. Amniocentesis is a voluntary test, and your genetic counselor will discuss it with you in more detail.





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