NIPT High Risk - Will the amnio be positive?

[ZoetobeMum]

I got the result yesterday of a high risk result from a NIPT test. I did this as i came back high risk with the hospital for T21 (1:58) on the combined test. I am waiting to have an Amnio done on monday morning? Will the amnio most likely confirm T21 and should i start my research for my baby? I just wish i knew how badly affected the baby will be if they are. Any tips on sharing the news with family?

[junebug121]

Hi there, firstly I hope you're looking after yourself at what is undoubtedly a stressful time.
No one can say for definite that the amnio will come back positive for Downs but the NIPT itself is very accurate so I would be preparing myself for that to be the outcome, as I'm sure you are.
In terms of how your baby will be affected it is hard to say as there is a wide spectrum when it comes to Downs. My sister has Downs and has no other physical issues. You will obviously be offered additional and probably more detailed scans to keep track of how the baby is progressing.
With regards to telling your family, do they know about the pregnancy and the initial risk you'd been given?
x

[ZoetobeMum]

I am preparing myself for the test to come back positive. Just hard to imagine at 27 i would be expecting a baby with DS. I have been looking at the Downs Syndrome website for information in preparation.

The family know i am expecting but after knowing how far off the combined test can be with the NHS, i opted for a private NIPT. Just have no idea how to tell everyone that the baby might not be what they expected.

[UnderTheF1oorboards]

The baby will still mostly be like you and his or her dad so in many ways will be what people expect. Honestly, there are many more similarities than differences. Most babies with DS are in fact born to younger women, btw. I'm not sure how much you would really need to explain; just be breezy and positive while also being matter-of-fact and others will follow your lead.

[UnderTheF1oorboards]

When I told DM the doctors thought DS had T21 she said, "oh don't worry darling I'm sure he hasn't." 😂. Great reaction! She now loves him more than she loves me.

[junebug121]

Yes i completely agree with pp. You've made your decision and I think the best way to tell people is in a positive way, even if maybe you're not yet completely feeling that on the inside which is totally understandable.
Once baby is here I'm sure he or she will have everybody enchanted in no time!
x

[UnderTheF1oorboards]

It's a weird situation; you might end up having to reassure the people you tell whereas it's you and the father who actually need reassurance the most. I guess the main message is that T21 is not a disease and people who have it don't suffer from it. Most of the physical problems (if there are any - may well not be) are very fixable. There is a lot of help and techniques out there to help the children learn is a way that suits them. Having a learning disability doesn't mean you can't learn, it just means you go about it a bit differently and you have to start early. Have a look at DSE International for lots of research, explanations and resources. It sounds like your little one will have a flying start with you. Good luck!

[ZoetobeMum]

Thank you for your kind and supportive messages. I think i am a little scared as it is very much the unknown with my family. I just hope i can offer them everything they need and the family will see past the ectra chromosone.

I have the amnio first thing in the morning so will feel better once i have got past this and will start accepting that it may not be what i expected but it will be my perfect baby.

[UnderTheF1oorboards]

Hope everything goes smoothly for you this morning. Feel free to PM me if that would help x

[FindingNemoandDory]

Good luck today

[ZoetobeMum]

Just wanted to give you an update.

After speaking with the consultant they said the amnio 99% of the time comes back positive after a NIPT test has been positive. As we are keeping the baby we have decided to wait til after 30 weeks to have the amnio done so there is no risk of miscarriage. After a detailed scan the baby is showing signs of Downs Syndrome and the doctor found a heart defect so will be seen by a cardioligist. Very upset and uo and down. I don't even know how to tell everyone not only will the baby have Downs Syndrome but may need surgery once they are born on their heart.

Feel like i am not doing my job to keep them healthy. I just hope nobody blames me. Any advice for coping or getting my head around it all would be very much welcome!

[Primulas]

My situation was quite different from yours - we found out at 34 weeks that DS had a blockage in his bowel and had an amnio as it is something that often presents in Down Syndrome foetuses. The amnio came back clear, but he did need an operation the day after he was born and was in hospital for nearly 8 weeks. I wanted to say that I absolutely shared your feeling that I had somehow done something wrong and made a baby who didn't work properly. I felt guilt towards him too, that he had to endure so much when he was so tiny. Of course, I know that it isn't my fault, but I absolutely understand how you feel. Absolutely nobody else has even so much as suggested that though. I hope somebody else will come along with some more practical advice for you, OP.

[junebug121]

Sorry things have become even more stressful. This is absolutely nothing you have done so please do not beat yourself up about it.
Again I can't offer any advice on your exact situation but my little one is very small and they don't know why. I too have felt like I must be doing something wrong or my body isn't providing a place where he can thrive.
I know deep down this isn't true though. I love my baby so much, as you love yours and that is the most important thing.
I really hope that you get the love and support you need from your family and friends.
x

[ZoetobeMum]

Thank you so much for your kind words. Sorry to hear you had to endure that Primulas. I hope your son is ok now and made a full recovery.

I just wish it was easier not to blame myself.

junebug121 - i hope your little one is perfectly healthy and that you aren't too stressed. How far are you with your pregnancy?

[junebug121]

Zoe - I am 33 weeks pregnant. It has been an up and down pregnancy. We had a high combined risk of 1 in 13, but our NIPT was low risk and 20 scan seemed all good. Then at a growth scan at 28 weeks he was suddenly measuring below the 5th percentile. He has been growing but is still small and they don't why. They've offered us an amnio but we've just decided what will be will be. Obviously we're hoping that he is just a small baby.
So with all that I completely know how you feel about it being something that you've done wrong but deep down I know that's not true and I really hope you do too.
x

[ZoetobeMum]

Not long to go now for you then. I hope everything is ok with the baby. If anything it might just make labour easier having a smaller baby. Thats all i think when they told me my baby is small.

You haven't half had a rollercoaster through out your pregnancy but i am sure it will be all worth it in a few short weeks.

Thank you so much for replying to my messages, they have really been helping me through this.

Do you not think after a while it starts to take the fun and excitement out of being pregnant and makes it even more nerve wracking?

[UnderTheF1oorboards]

You are already a wonderful mum. We all screw up in so many different ways, it's just part of parenting, but having a child with health issues is not screwing up. You are doing just great.

Knowledge is power, and your little one will be in a much better place because the cardiac issue is being picked up before s/he's even here. The doctors will have a treatment plan all ready to go. This is a much better thing than only finding out days or weeks after the birth when the baby goes blue.

Heart surgery seems so huge, doesn't it? My son has heart issues not requiring surgery, but I know several other children who have had heart surgery when tiny. They're all bouncing around like puppies these days. Do get in touch with your local DS support group because there will be parents there who have been through it and you can meet the bouncing healthy former heart patient children for yourself. The DSA can point you in the right direction. Do you know which hospital your LO will be under? The Brompton and the Evalina have family support groups for child heart patients so I guess other hospitals do too.

I used to feel very guilty that I (and genetically it was almost certainly me) had made my son this way. He was quite unwell when he was little in various ways and we were often in hospital, sometimes for long stretches. It was totally shit. Being totally honest I don't feel guilt anymore because he doesn't remember the early days, he has a great time, loads of opportunities and we have a lovely life together. The guilt about his past health problems is mine to swallow and I can't pass any negativity on to him by holding onto it myself. You're stronger than me because if I had known when I was pg that he had T21 I honestly think I would have terminated. Knowing what I know now, my blood runs cold when I think of that. DS1 is the best thing that ever happened to me.

This is just me wittering and it must seem very distant from what you're feeling right now. Please just try to keep in mind that 'lottery win' feeling which will come to you when your LO walks, speaks, laughs, reads for the first time. And s/he absolutely will do all those things and more. That guilt and worry will be eclipsed by more pride and love than you can imagine.

I won't lie, you will need to put in more legwork to get your DC past those milestones and it will take longer, but there is a lot of help and information out there and you CAN do it.

Here are a couple of favours you have already done for your DC:
People with DS are more than 90% LESS likely to die of cancer than those without a bonus chromosome.
Siblings of people with DS are nicer

[Babipotjam]

Hi OP although am not a mum with a child who has DS please feel free at any point to PM me with any questions as I have done lots of work with babies and children with DS over the last 8 years.

[junebug121]

No not long, especially as I think he will be arriving early either via induction or c-section so probably only 4 weeks to go. Which is exciting and also very scary!
I must admit that I have been nervous for the majority of my pregnancy. I know it's worse when you have something specific to worry about but I think all mums worry. Pregnancy is emotionally and physically demanding and there is always a chance something could go wrong.
That said there are the most magical moments, like when you first properly feel the baby move, it's amazing. And now I'm just waiting for the moment I get to meet my little guy which will be the most magical moment of all whatever size, shape or from he comes into this world in.
x