Amniocentesis and T20 M
Expecting the birth of a new baby deserves to be one of the happiest times in a couple's life together, and fortunately it often is.
Everyone has thoughts about whether the child will be "OK". For some, though, these thoughts can take over and it can be a time which is affected by worry and doubts. This is often the case where the pregnancy is not straightforward for whatever reason, and not the least when either ultrasound, amniocentesis, CVS or other findings suggest that the child may have a chromosome abnormality.
Trisomy 20 Mosaicism (or T20M) is a rare, though not uncommon finding at second trimester amniocentesis or following CVS.
As such a finding, however, it can be both frightening and misleading.
The latest research has found that in over 90% of cases where T20M has been detected at amniocentesis, no chromosome abnormality is subsequently found in any tissues in the liveborn child. (Wallerstein et al. 2000)
Occasionally, the abnormality is, however, confirmed post-natally in extra-embryonic tissues (e.g. cord, amnion, placenta) which, it is believed, may account for many of the findings at amniocentesis.
For a selection of review articles and abstracts on this subject click below:
For a selection of review articles and abstracts of individual cases where T20M was not confirmed post-natally click below:
For real life T20M amnio stories click below: