Tracey,
I'm so sorry that you're going through this awful experience and having such terrible worry at what should be a lovely, happy time of your pregnancy. I also realise that no matter what we say on here, or how many people tell you not to worry, that of course you're going to be very anxious until you get your results. I don't know if you're the same as me, but when I worry, I want to know some facts. I even want the "worst case scenario" to know what I'm (or might be) dealing with. On this note, I've done a bit of research for you, based on your last post.
Here's what has been said about the 'choroid cysts' you mention:
'The choroid plexus is the tissue within the brain, which produces the cerebrospinal fluid. This fluid fills the normal spaces in the brain (ventricles) and flows around the outside of the brain and spinal cord. Small fluid-filled spaces, called cysts, are seen during obstetrical ultrasound examinations in the choroid plexus in up to 2% of normal pregnancies.
These cysts disappear spontaneously during pregnancy and are, in themselves, of no concern before or after birth. There is no need to re-scan during pregnancy. Children with choroid plexus cysts are developmentally normal and indistinguishable from those in whom no cysts were seen on ultrasound examination during pregnancy.
In a few patients reported in medical journals, a fetus with choroid plexus cysts was found to have a chromosomal abnormality, Trisomy 18.' THIS IS THE "CHROMOSOMAL ABNORMALITIES" THAT YOU'RE WORRIED ABOUT.
'In Trisomy 18, the fetus has an extra chromosome number 18 with a total of 47 chromosomes, instead of the normal 46. The great majority of babies with this condition have other physical abnormalities, often affecting the limbs (especially a clenched fist or club foot), heart, brain, and/or face.
When these defects are found in addition to choroid plexus cysts, there is a strong concern about Trisomy 18, and the mother would be recommended to have an Amniocentesis to determine if the fetus has this condition.' NEITHER OF YOUR SCANS SO FAR SHOWED THESE ADDITIONAL ABNORMALITIES?
Other research states:
'Choroid plexus cysts have attracted a great deal of attention because of an association with chromosomal abnormalities, particularly Trisomy 18, and the need for aggressive antenatal diagnosis (i.e. amniocentesis). Choroid plexus cysts are seen in approximately 2-3% of normal fetuses during the second trimester compared with 30% of fetuses with Trisomy 18. However, Trisomy 18 is relatively rare, and most affected fetuses have multiple dysmorphic anomalies that can be detected by sonography.'
There is considerable controversy in the medical journals about how great a risk of Trisomy 18 or other chromosomal abnormalities there is for a fetus with choroid plexus cysts. This is especially for the fetus that appears otherwise normal by ultrasound and has no other risk factors; such as mother's age, a family history of chromosome problems or an abnormal screening blood test called (Maternal Serum Screen). The size, number and eventual disappearance of these cysts did not alter the risk. '
'Esophageal atresia
The birth prevalence of esophageal atresia is about 1 in 3,000. In 90% of cases there is an associated tracheoesophageal fistula. The condition is sporadic. Chromosomal defects are found in 3-4% of affected neonates. Prenatally, chromosomal defects, mainly trisomy 18, are found in about 20% of cases. '
Here's what the Trisomy18 organisation have to say about diagnosing trisomy18 (also known as Edwards syndrome):
'A Level 2 Ultrasound, also called a targeted ultrasound, is conducted specifically to look for particular markers based upon what was found in the initial ultrasound or triple screen. Perhaps the initial ultrasound found a choroid plexus cyst or the baby is small for gestational age. Or perhaps a triple screen result indicated higher than normal odds for a chromosomal condition. In those cases, a level 2 ultrasound is often recommended. This is another screening test that does not diagnose Trisomy 18 but gives more information about the odds of its presence.
A perinatologist, fetal medicine specialist, or someone else who specializes in high-risk pregnancies and who is trained to look for the markers of chromosomal disorders typically conducts level 2 ultrasounds. These markers are soft markers and structural markers. Soft markers are characteristics frequently seen on babies with the disorder, and structural markers are abnormalities in organ and bone formation.
Some of these markers for Trisomy 18 are as follows:
clenched hands, choroid plexus cysts, rocker bottom feet, delayed growth, heart defects such as VSD, ASD, and coarctation, kidney abnormalities, omphalocele, esophageal atresia, and polyhydramnios (excess amniotic fluid)
What if they only find one marker?
Studies have shown that most (but not all) babies with Trisomy 18 show some abnormalities during ultrasound (ref 1,2). Other studies have shown that a single marker found on ultrasound is usually not a good indicator of a chromosomal condition (ref 3,4). In other words, if only one marker is found during a level 2 ultrasound, the odds are very high that the baby is healthy.
What if they find several markers?
If several markers are found, typically the next step is an amnio, which is a diagnostic test.
CONCLUSION
Choroid plexus cysts and esophageal atresia can both be found in babies with no chromosomal abnormalities (i.e. in developmentally normal babies). Even if both are present together, this does not mean your baby is going to have Edwards syndrome, because usually, other "markers" such as clenched fists, heart defects, club foot etc are present.
If a fetus with choroid plexus cysts has a detailed ultrasound, including views of the heart and of hands that open and close, and shows no other abnormalities, then the risk of Trisomy 18 is only 1 in about 250 (IF THE MOTHER IS UNDER 32 AND THERE IS NO FAMILY HISTORY OF CHROMOSOMAL ABNORMALITIES). Only an amniocentesis can give an actual diagnosis.
So Tracey, although both choroid cysts and esophageal atresia can be present in babies with Edwards syndrome, they are also both found in developmentally normal babies too. The chances are that your baby will be fine. The only way to definitely rule out chromosomal syndromes such as Edwards' -Trysomy 18- is by amniocentisis. I don't understand why they did an amnio first and are arranging for a more detailed scan after that? Really, it should have been the other way around because of the risks from having an amnio.
I hope that everything turns out to be fine and that you get to enjoy the remainder of your pregnancy. It sounds as though you've had quite a journey already in getting this far. We're all thinking about you. Let us know when you get your results.
xxx
P.S. I'm sorry that this sounds complicated and like a load of jargon - this is supposed to be it in "plain English" and condensed! It should be obvious that even the medical professionals and researchers cannot tell you for definite whether your baby will have chromosomal abnormailities or not, even after scanning you in detail. Only an amnio to look at your actual baby's cells, can show if anything is wrong, so really, you will just have to wait and see, I'm afraid.
