High risk for Downs

[Mummy40]

Hi

This is my third pregnancy. My first at 29 DS11, Second at 36 DD4, and now this one at 40. My concern is at 13wk u/s I was given 1/157 chance of Downs, the nuchal was 3mm, the bloods came back normal, but unfortunately there seems to be a heart defect which has me really worried as it can be related to downs I am booked in next Monday for another ultrasound and an amnio. I am really worried about the amnio as there is a slight chance of miscarriage. If it is Downs should I have a termination or not is another big question I am asking myself as I dont know whether I can look after a Downs child as well as give my other 2 children the attention that they need, but having a termination would be the hardest decision I would have to make. I have mixed reaction from family and friends on what I should do as some are totally against terminations. I would like to hear from other mums out there who have been in my situation and what they did. Sorry for rambling on but I am very worried and confused.:confused:

[Lunar]

Hi:wave:

Firstly, congrats on your pregnancy!

I am a mother of 3 beautiful girls. Emily 7, Kailah 3 and Morgan almost 8 months.

My eldest, Emily, she is a wonderful little girl. She loves to play outside and watch the birds in the trees. She loves playing with her sisters, and has many little play mates. She is a ball of energy and loves to be tickled. She brings joy where ever she goes. People are drawn to her lovely nature.

She also has Down syndrome. It is not what makes her, her though. It is simply one little part of her.

I found out when I was pregnant with her that she had DS. I was given the opportunity to terminate her life. But I had already felt her growing and moving, I was already connected to her and loved her more than anything.
I said to myself "If she wasn't meant to be here I would have lost her by now" And I still believe that now. She has changed my life SO much... for the better!
In the remainder months of my pregnancy I got my hands on everything I could find re:DS. But the most important and BEST thing I did was get in contact with other parents. Parents who are raising children now. So much has changed in the ways of early intervention over the last 20 or so years. It gets better every year too. Leading a 'normal' life IS possible for people with DS. They can lead very productive and fullfilling lives.

I say these things not to try and convince you to make a particular choice, or to steer you in any one direction, but to inform you.
Having an amnio is a very tough decision to make and one only you can decide.
You are the one who has to live with yourself and the result or ramifications that the test involves. Yes there is a risk of miscarriage, there is a risk of harming the baby. Everything carries risks.
Down syndrome is not a bad thing. It is only feared because of the unknown. People fear the unknown, and there for avoid it. Arm youself with information and then make and informed choice.
Believe me when I say this, your other children will NOT suffer if they have a sibling with DS. They will greatly benefit from it.

My little girl does not suffer, she is not unhappy, she doens't have medical issues, she is not a sickly child. She is well, happy, and most of all she is loved and she loves, oh boy does she LOVE!
MY life is better because of her.

If there is anything you want to know about Down syndrome, please pm me. I try my best to answer everyone's questions to the best of my ability.


:yes:"Down syndrome is not a life sentence, it's a life enhancement!":yes:

[TeenyT]

Hi Mummy40. Firstly congratulations on your pregnancy but I am sorry you have been given such a scare. With my last pregnancy I was 38 and given a risk ratio of 1:97 with normal bloods and a nuchal fold measurement of 2.8mm. My son did not have DS or any other chromosomal syndrome but was born with a complex cardiac condition. I cannot give you advice on whether or not to have an amnio or whether to terminate based on results as that is purely a personal decision and you shouldnt be pressured by others on which way to go as you and your husband are the ones who have to deal with whatever you decide . You choose the outcome that you feel you can cope with. Neither decision is easy and I really feel for you.

Lunar has given you a perspective on being a parent of a Downs child, there are many of us mums that can give you a perspective on being a heart mum - not all of it doom and gloom, if you need advice.
Could you ask to be referred for an early echocardiogram if the amnio comes up negative? You can have this done around 17-18 weeks as it can give you a lot of information on the type of heart defect you are dealing with to prepare you for what lies ahead. Many are completely manageable, some through surgery and some are just monitored.

:hugs:PM me if you want to chat further.

[Mummy40]

Thankyou Lunar & TeenyT for your words of encouragement, it is good to hear positives instead of negatives all the time. My next scan is Monday (16wks). At this stage I have decided not to have the amnio (unless the scan comes up with other soft markers)and just let nature takes it course of what is meant to be. I will keep you posted and let you know the outcome.

[kiwiaussie]

I just wanted to re-iterate what Lunar said. I have 7 girls, the youngest of whom was born with Down Syndrome.

Samara wasn't diagnosed until she was 4 weeks old (partially because she was 9 weeks prem, so the tell-tale signs weren't there). At the time I was totally devestated. I envisioned her spending her adult life in care and moping floors at MacDonalds! I thought all her future choices were being taken away from her. I also had horrible thoughts of her being picked on because she was different.

Well, since then, I have learned that there are many DS adults who hold down much more complicated jobs, some who marry, some even have kids. And truth to tell, pretty much all kids get picked on, so even if she is, it's not like there wouldn't have been something she got picked on for anyway.

As for my ability to cope - well, if I couldn't cope with her, I couldn't cope with any child! Seriously, she is no different. Sure, she needs a bit more therapy, and as she gets older I will probaby notice bigger differences between her and her sisters, but overall, she's just a kid, like any other. People with DS are actually not very much different to anyone else. The biggest difference is that they are more inclined to stay in each stage a bit longer. Not so much fun on the toilet training, but pretty good on the cuddles!!

There really are a lot of positives, and you also get to be part of an exclusive club of wonderful families! I have met so many friends I would never have known if it wasn't for Samara.

I was talking to my neighbour last night, and she said, she hadn't really known what she would have done if she had found out, when pregnant, that one of her kids had DS. She possibly would have terminated. But, now that she knows Samara, she would gladly welcome a DS baby.

All the best with everything, and know that if your child does have that extra chromosone, that you will find a lovely community of parents who will support you in every way.

Carolyn

[mum2six]

Hi congratulations on your pregnancy, and i wish you all the best with your scan on Monday.

I dont have a Downs child, what i do have is an adorable little girl who just happens to have Down syndrome.
Like you I also had her when i was over 40 and was actually given a very high NT result of 1/2. So based on those results i made the decision to have an Amnio so i would know for sure, i then set about getting all relevent info that would help me fully understand what hurdles we might face.

My DD is very fortunate in that she has no health issues that are sometimes associated with Ds. She has reached all her baby milestones on target.

I dont know what the future holds for my little girl just the same as i dont know what it holds for my other children. Heck i have a 16yr old who i dont think will EVER move out :laughing: But what i do know is that she will have nearly all the opportunities that *typical* children have. And because of her my other children will have a more enriched life.
I doubt very much she will be a burden on them as i fully expect she will growup to live her own independant life, im not saying this cause i have my head in the clouds:rolleyes: no i say this because times have changed and people with Ds are more accepted now. Services are far better and they are no longer seperated from their peers at school.

Im not worried if she ends up working at MacDonalds, heck my oldest DD started out mopping floors at KFC and is now a top manager of her own store earning far more than i ever did. The possibilities are endless.

In the end you will do what is right for you, only you know what you are capable of and what you can handle. I just wanted you to know that a high NT result doesnt have to be scary, sometimes it gives you the knowledge that you are about to begin the most amazing ride of your life.:flowerz:

[Cosimum]

Just wondering how your scan on monday went??

[Mummy40]

Just to update - The scan for Downs Syndrome came back ok, but unfortunately there is definately a heart problem, I have to go to the Mater in Brisbane to see the cardio to find out exactly what the problem is and what to do next and how bad it is. Will keep you posted on the outcome.

[kimcam]

Hi There

While I do not have a baby with Down Sydrome I would like to add that for my first pregnancy I was put in a 1:5 risk of having a baby with Down Sydrome. We decided not to have the amino as there would be a risk miscarry and wait until the 18 week ultrasound. Everything was all ok at the 18 week ultrasound and the baby had a good heartbeat.

I am now pregnant again and once again put into high risk for having a baby with Down Syndrome 1:58 risk nuchal fold measured 3.2 mm. I told the GP that we did not want to have the amino done. After having an 18 week scan and another scan this week there is no sign of soft markers and no problems with the heart. I having another ultrasound at 24 weeks to check if there are any problems with the heart. Even if I do have a baby with Down Syndrome I would terminate as they are very loving and affectionate.

Kim

[Amara]

I had a 1/37 risk factor for down syndrome with a measurement of 4.1 with my son's pregnancy at the age of 42. I had an amnio and we had decided that if the bub had it that we would terminate. No judgements from people please. The amnio showed no DS or other trisomy and when he was born this was confirmed.

My decision regarding termination was based mostly on my age. I did my research & found that DS kids can have heart problems, or can become difficult or violent in their teenage years (yes I know that can happen without DS too) & I would be quite a decent age by the time that came around. I also feared what would happen to the child or young adult after I'd gone should I not live a long life. I was certain that my then partner could not deal with a DS child (turns out he couldn't really deal with life with any child) & as my parents are elderly & not in good health already I could've found myself having to deal with all those things alone. Thankfully I did not in the end have to deal with any of that. Best of luck with it all.

[jaesmummy]

Hi everyone. I've recently been through all of this as well. My babys nuchal fold was 3.6 and I'm 40 years old. My chance of DS was 1:20. We had an amnio at 16 weeks and all came back fine. At my 20 week scan the nuchal fold was still way above average thickness and the scan results said that I should have further testing to see if the baby was DS. (They didn't know about the amnio results). This has worried me ever since. I don't know if there IS something wrong with my bub or not. I'm now 30 weeks and the baby is measuring 34 weeks so I am going for an ultrasound next week. I know that it's definately not DS but I still have this nagging feeling that there might be some other problem that we don't know about.

[mytwoangelsC&A]

:hugs: jaesnummy, and good luck.
I dont have a child with downs, but my DD has Turner's syndrome i did not know until she was 7 days old she underwent open heart sergury at 9 days old which was a symptom linked to the turners. I too fely all along there was something not quiet right i wasn't able to buy anything or set up her room until a couple weeks before she was born as i felt that i may not have her, i really didn't enjoy the pregnancy. However now 2 years on yes dd has been through a lot more than most but she is my beautiful angel she is an awesome little girl just like any other. I was open to a termination before having her but now i am not so sure, my OB advised that i would have been advised to terminate if she was diagnosed in utero. :hugs:



Hi everyone. I've recently been through all of this as well. My babys nuchal fold was 3.6 and I'm 40 years old. My chance of DS was 1:20. We had an amnio at 16 weeks and all came back fine. At my 20 week scan the nuchal fold was still way above average thickness and the scan results said that I should have further testing to see if the baby was DS. (They didn't know about the amnio results). This has worried me ever since. I don't know if there IS something wrong with my bub or not. I'm now 30 weeks and the baby is measuring 34 weeks so I am going for an ultrasound next week. I know that it's definately not DS but I still have this nagging feeling that there might be some other problem that we don't know about.