CVS results - Help!

[Mindy16]

Hello to you all.

I had a CVS procedure done last week after babies NT levels came back at 6.3mm and no nasal bone detected. I’ve just had a phone call from the midwife today saying that the results came back clear for everything but they found small traces for T-21 Down Syndrome but they can’t conclusively say that baby has DS. Been told that they will be able to tell me for sure in next 9 days. My head right now is all over the place as was hoping for the best, but am now in an emotional state again because I don’t know what this may mean. Does having a small trace for DS mean that it’s pretty conclusive that baby has DS. I am reading some threads in regards to confined mosaic placenta. Would I be right in thinking that this is what I may be going through? I am new to this site and any support or advice would mean a lot. Thanking you.

I forgot to mention that the midwife also said that along with the traces of T-21 there were also normal cells.

Hi Mindy,

Sorry you're finding yourself here. I think it's a shame the midwife didn't give you anymore information and that you weren't told about the possibility of a T21 mosaic either. There is a chance that baby is affected by T21, and there is a chance it's healthy. Usually they would now suggest to do an amniocentesis rather than wait for the 2 week results of the CVS. Was this mentioned at all?

Hi @Mindy16

Firstly, I'm sorry you find yourself here - it's a frightening thing to learn that your baby could be unwell or have a genetic condition.

If there are some cells with T21 and some without, then it's difficult to say what's going on without more information (either from the other CVS results or from amnio). There could be confined placental mosaicism, where some cells in the placenta have T21 but the baby doesn't. Or, the baby could have mosaic T21, where some of the baby's cells have T21 but others don't. Or, baby could have T21 and the non-T21 cells could be from the placenta.

In confined placental mosaicism, the baby doesn't have T21 at all.

Mosaic T21 is often much less apparent clinically, with lower rates of health problems. Some people, you wouldn't know without being told. However, the degree of mosaicism can be unpredictable.

A person with full T21 can have relatively minimal health problems or could, sadly, be badly affected. But investigations should be able to identify or exclude a lot of the more serious issues which can arise, so that you can make informed choices for your baby if necessary. In cases of full T21, though, I'd expect the CVS to have shown up more than traces.

You might be offered amnio, or you might prefer to wait for the full CVS results. You should also get the opportunity to discuss the results with a doctor who can put them in context for you.

If you do get a diagnosis of mosaic or full T21, there are a lot of resources available online where you can learn more about T21 to help you make informed decisions for your baby's health needs. I've had a family friend who had T21 (he sadly passed from an unrelated issue) but he lived independently, worked, had friends and was a funny and kind man. I've also worked as a support worker to care for people who have had complex health problems due to T21. So, there's a huge spectrum in terms of how people can be affected. My advice would be to try to get as much information as possible about your baby's health from your clinicians, and to keep hoping - the midwife sounds like she was fairly optimistic based on the results so far.

Take care. 💜

6.3 is on high side. Ask about full chromosome testing. There are other syndromes too.
Ask what this means
Mosaic ds
Something else?