Partial T13

[BonnieDaisie123]

Hi,

I have had Amniocentesis test done a couple of weeks ago. We received very confusing results yesterday. The results stated that our baby has Partial Pataus or partial T13. This is extremely rare and even the genetic councillors didn’t seem entirely sure what the life expectancy or impact this would have. Although they said it will probably be a ‘bad ending’ they couldn’t tell us how. I’m not sure it’s been seen enough for them to give definitive answers. I was just wondering whether anyone else has had the same result and continued pregnancy?

I'm sorry you are going through this. It can be a very stressful and confusing time. My 1st pregnancy had T13 and I did a great deal of reading up on this.

Did they say T13 mosaism? Its means that some cells in the body will have the additional chromosome 13 and some cells will not and will be 'normal'. I know with other mosaicism's such as Down Syndrome, the child can present with slightly less medical issues and a slightly higher IQ, because some of the cells are not affected, but they still have Down syndrome.

In T13, I believe the prognosis is still very poor, even with some cells being 'normal'. Normally, T13 causes miscarriage, or if the baby makes it to term, will die within hours/days of birth. I recall reading of very rare cases of T13 mosaicism in the US, where the children had lived to be older, but their quality of life was still very poor. Some managed to stand, some could say a couple of words at age 6 and12 etc.

https://pmc.ncbi.nlm.nih.gov/articles/PMC8552511/

You might find advice from ARC https://www.arc-uk.org/

Did the hospital say what the next steps for you are? What are you and your partner thinking about doing?

I chose TFMR and know it was the right decision for us. If you have any questions at all, I'm happy to answer them. Remember though, that this isn't your fault and you aren't alone x

@Darkclothes They said it is Partial T13. This means that the baby has extra genetic material on chromosome 13. Instead of having 2 chromosome 13 the baby has 2 and a bit extra. It’s very rare and although they have said it could likely be a bad outcome, they can’t be certain as it’s so rare, I’ve looked everywhere and can’t find a case of it. I think the other issue is the scans at 20 weeks are perfect with no abnormalities apart from fluid at the back of the neck which is why we got all the tests done.

At the moment we have another scan in 3 weeks time to see if any abnormalities are spotted. If we see abnormalities then we will consider to terminate. The issue is when looking at the scan we feel like we would be terminating a perfectly fine little girl. Although we know she has this extra of chromosome 13. The process from start to finish with fetal medicine has been awful and everything has taken so long. It actually makes me not trust them to be honest but that is probably me holding on to nothing.

Hi @BonnieDaisie123 I’m so sorry to hear what you are going through. It can be really unclear but the outcome may depend on the section of ch 13 that is extra. Did they give you some info about this? You might wish to ask for another appointment to follow up ahead of your next scan. Did you see a genetic counsellor or also a genetics doctor? I’m sorry you had a difficult experience with fetal medicine too.

i can’t easily find info meant for patients in your situation but this link (scroll to the bottom of the doc for partial 13 duplications) is for professionals. As you will see, if it is the central portion affected, the outcome is a lot better https://chromodisorder.org/wp-content/uploads/2017/08/13ChromosomeChapter.pdf (ETA I think there is a typo in this - section c at the bottom is also labelled ‘central’ but looks actually to be about ‘distal’ duplications (I.e. ones at the end of the chromosome))

sending unmumsnetty hugs. Be kind to yourself, you’re going through a lot

@Ellio We didn’t get told. Just that it was a significant chunk. We seen a genetic counsellor but she seemed very coy about the situation. I asked both her and the consultant present had they seen this before and they said not exactly. I think the issue is the scans are perfect and when I search there’s not much out there at all in terms of baby’s who have had this. Whether that’s because parents opt for termination I’m not sure.

Thanks for the article that helped. They are reviewing the Karyotypes currently and we will then get the full report sent to us so I can review what the extra genetic material is. The consultant and counsellor also said that the initial amniocentesis report didn’t contain the four main syndromes only two because they couldn’t locate chromosome 13. All seems very confusing.