Is there a test to determine the TYPE or Downs Syndrome I pregnancy?

[PurpleRayne89]

Im aware there are 3 types of DS. Some more severe than others. I know a NIPT, CVS and amniocentesis can determine whether T21 is present but can either test determine the type or DS such as T21, translocation or mosaic? I had a CVS which confirmed Down’s syndrome but they just said the result was abnormal and nothing more.

Thank you!

Hi OP. I don’t definitively know the answer but a quick google suggests the severity of the disability cannot be known before birth x

https://www.quora.com/Can-a-parent-detect-how-severe-the-down-syndrome-will-be-in-the-baby-prior-to-birth?top_ans=24418522

the top answer is very interesting.

A genetic test can tell you the type of DS, but it's pretty irrelevant, because everyone with DS is different. It's imposssibly to predict future ability.
I have a daughter with DS, and I've been where you are now. It's shocking, terrifying, and life rocking. Where you are now.
For me, all I had was a diagnosis of DS, with a serious heart defect, and I was broken. Because everything you read is terrifying, and mostly both (mostly) factual, but also highly biased and out of context. Almost nobody was positive, (including my family)except for the other ds mums I found on here.
Pregnancy was awful. But having her was life altering. The first few months were hard, nobody wants to put their child through open heart surgery at 3 months, (or ever). But it passes. And she's the most beautiful, funny, smart, stroppy little git I've ever met. I'd not change her for the world. She has her issues. Health wise she's an ox. Cognitively, in DS terms, she's average. She's made our lives better. She loves the world, and most of the world loves her. I wouldn't change her for the world.
If there's anything I can do, or answer, or recommend, please feel free to drop me a PM. You're in a tough position, and I'll do anything I can to help you. X

That's all very scientific, but totally impossible to process. 😆
Long and short is, jn my opinion, they can make vague predictions, but there's no guarantees. You can try massive overdoses of vitamins and minerals, and it may help cognitive ability to some extent, but I've never found much actual proof.
Physical issues are easy to identify. Cognitive ability, pretty nearimpossible.
Its the same with anybody really. You can't really predict how smart someone will be before they're born.

My understanding is the quality of life/severity is mainly judged from scans. The genetics simply doesn’t tell us that level of detail.

scans will show the physical issues- heart, nasal bone, gross anatomy, and any other developmental issues.

if you are making a decision on the future of the pregnancy and it will help your decision, speak to your medical team about imaging to give the best guess- and it will be a guess- as to the severity and how much medical intervention may be needed.

Please don’t try massive overdoses of vitamins/minerals, or anything for that matter.

some vitamins are toxic in large amounts, to you and your pregnancy.

Absolutely! The way it's done is using a supplement called Nutrivine D, given to the child. Personally, medicating my child with DS to try and make them smarter didn't sit well, and I never entertained the idea. Some parents do. It's a personal choice.

Those things are co morbidities of DS. DS is purely a cogntitve and developmental disability.
Moat of the co morbidities which might be considered dangerous, are fixeable.

You might want to have a look at the PADS website

I 100% agree with this recommendation. ❤️

What a lovely answer. Your DD is lucky to have you x

My son has trisomy 12P, rather than 21, but at his diagnosis (he was a few months old) we were told that the best indicator of future progress and outcomes is current progress - in other words, watch him and see what he can achieve. He should "officially" be much worse off with his full duplication but in some ways he is further ahead of children at comparable ages with the mosaic form - he is bucking the expected trend. There is a tiny cohort worldwide with his trisomy but the outcomes vary hugely despite the similar genetics. Predicting the future for him is very hard and even overall trends are not clear in the cohort. He has a heart defect no one has ever seen before in his syndrome, for example, but it is still felt to be linked to his chromosomal duplication.

So this all seems to show that the genetics only play a small part overall. Trends, yes, but each child develops individually along their own path.

Mosaicism could only be ruled in or out via close checking of cell samples a month or so after the initial genetics were back. I doubt this could be done before birth (though may be wrong)

Wishing you all the best.

Thank you everyone for your kind responses. @LOveLaughToasterBath your daughter sounds wonderful, the way talk about her is very sweet.

I wanted to also ask. Do you of you work full time? I’ve not yet come across DS mummies who have managed to maintain their jobs. They may have in the beginning but as their child got older, it was near impossible and their financial situation is challenging.

I don't work, but only because I choose to. DS is a part of that, but in the main, I'm older, have raised 2 kids whilst working already, and prefer to be available if needed. I'm not a career worker, and I missed out on so much working evenings and weekends. I opted for genteel poverty this time round. 😆
I know lots of DS mums who do work. Obviously finding the right childcare can be harder, but once they're in school, a school hours job is not an unreasonable ask. There are so many factors at play, a definitive answer is hard to give. X
I'd say that school age would be easier, they're at least out of the way from 9 till 3.

My story is very similar to @LOveLaughToasterBath except nothing was picked up pre-natally. DS had open heart surgery at 14 weeks. It was a tough first year. However DS is 13 now and an absolute joy.
I do work full time, however I was very lucky with a supportive, flexible employer. I also work from home a lot. DS went to a mainstream nursery and school until end of year 2 then transferred to an amazing special school where he is thriving. He was able to access wrap around care through a local childminder. After school care is very difficult to find for special schools in our area, luckily DS gets a school taxi so just need to be in to receive him.
I would say though most parents I know don't have two full time working parents. Disability benefits can help bridge the gap a bit, and whilst still pain to complete the forms children with DS usually have no issue accessing them.
Happy to answer any questions. Also might be worth chatting to ARC, if you need any support with ante-natal choices.

Without being in any way confrontational, because you sound lovely, please don't recommend ARC.
They are incredibly biased towards abortion, and aren't interested in being supportive.
The DS community finds ARC pretty repellant. The woman in charge has been vocal in her anti DS rhetoric.
Xx

@LOveLaughToasterBath Ah, sorry. I have never used ARC but seen them recommended on here a lot and assumed they were impartial. I'll not recommend in future.