Cysts in the part of the brain called Choroid plexus are fairly common. They are
seen in 1 - 2% or almost 1 in 50 of all babies. It could be a single or multiple
cysts. They can be found on one or both sides of the brain.
In isolation, choroid plexus cysts (CPC) are regarded as almost certainly insignificant.
When seen together with other markers, they take on a higher potential significance.
The condition most associated with choroid plexus cysts is Edward’s syndrome (Trisomy
18). Presence of CPC does not signify increased risk of Down’s syndrome. If a detailed
scan fails to show any structural abnormality or other soft markers, the risk of
the baby being affected by Edward’s syndrome or another chromosomal disorder is very
low and no invasive diagnostic procedure is indicated.
It is important to be aware that, in the majority of cases, choroid plexus cysts
disappear as the pregnancy advances. There is therefore no indication to perform
serial scans to monitor them. Choroid plexus cysts do not have any bearing on eventual
Abnormally short ‘long’ bones
The thigh bone (femur) and the bone in the upper arm (humerus) are generally known
as long bones. Babies with Down’s syndrome have been shown to have a tendency of
having shorter than expected long bones. Various studies have shown that this is
seen in about a quarter to a half of all Down’s syndrome babies. The phenomenon is
seen in less than 5% of unaffected babies.
Interestingly, when a shortened long bone is seen in isolation, rather than in combination,
this is more significant as far as the likelihood of Down’s syndrome is concerned.
That means, if either the humerus or the femur is short rather than both being short.
It is also the case that a shorter than usual humerus is more significant compared
to if it was the femur affected.