"High Risk" Downs Syndrome

[naomi2]

Hi there, I'm new to the forum. I have just received the results of the down syndrome screening - combined blood test and ultrasound. The nuchal fold on the ultrasound was normal (around 1.4mm) but my blood test result was not normal. One hormome was normal but he HCG came back 4 times higher than it should be. Because of this it has increased my downs syndrome risk to 1/132. I now have to wait two weeks for an amnio. Has this happened to anyone else? Naomi

[Mildez]

Welcome to BB.
As a midwife I would not consider a 1/132 chance of down syndrome been a high risk. There is a 131/132 chance bub does not have DS. There are so many people who have a 1/2 and 1/3 etc risk and go on to have a baby with no chromosomal abnormailities. There are a number of women on here that have been through similar things and I am sure they will pop in and post about their experiences. I am sorry you are going through this worry at a time when you should be relaxing and not stressing as much into the second trimester.
Best of luck with the amnio.

[~Kim~]

Welcome to BB hun You'll get lots of support here.
No hasn't happened to me (mine was 1/600 so opted not to investigate further), but couldn't read without offering
It's scary isn't it?
Have they offered lots of information?
Have you had a chat with DH about the potential outcomes so you have a plan together? (I know it's hard).

[smiles4u]

Welcome to BB Naomi

I was 39.5years of age at the time and mine was 1/93.

My new young GP handled the situation badly, she ringing me at home that i had to come into her clinic that arvo after her NOT telling me whether it was in regards to the test results (clearly i worked out that it was).

When i got into the clinic she said that my results was 1/93, her looking at me with concern that i didn't understand the seriousness of the results ... she said to me i quote " Do you understand your result is 1in 93, ... i had two new Mothers YOUR age this week one her results was 1/900 and the other 1/300 ... NOW do you understand ".

I walked out of that GP room almost in tears and in absolute shock ... DP came home and we both cried like we had never cried, was just awful. I had an appt the next day with a specialist at the hospital to organise a CVS test which i had spoken with my GP ages ago about doing ' if ' need be.

I arrived at the hospital (triage area) to which i was taken to a small room and in the next room next door i could hear a woman giving birth ... my poor DP was beside himself in seeing me so distressed, we both couldn't believe how insensitve to be put in ' that ' room, and we waited at least 30mins there.

Suddenly the specialist came in and he looked calm and at ease (whereas i was the opposite) he looked at me surprised that i was looking upset then he went onto tell me regardless of my results that i still have every chance to have a beautiful healthy baby ... thanks to him my DP & I left like we had won the lottery with the biggest smiles on our faces compared to minutes before we entered the hospital ... i had the CVS test days later and paid extra for the FISH to arrive 2days later (results come through quicker than the usual 2weeks wait) and it was the hardest phone call to take to the point i felt faintish then i was given the most wonderful results that all was great

I'm happy to say i went onto have a very healthy baby a few months past my 40th birthday ... my DD is now 3.5years of age and to look at a pretty, healthy and very intelligent child that my old GP made me feel i was carrying nothing but a downs syndrome child .. shame on the GP as she caused DP & i the most unnecessary hellish 24hours of our life !!

So, my advice to you is to NOT take the results to heart, and i wish you all the very best with the amnio xoxox

[Kitt3n]

So, my advice to you is to NOT take the results to heart, and i wish you all the best xoxox

Yep.

We were 1/185 ish.... something like that. To be honest it's a bit of a blur.

All turned out FINE. Hun I know your heart is aching right now. Please, please don't stress, don't think of anything until you get the real results!!!!!!!!!!

Can you opt for a test now, with a 24hr turn around instead of 2 weeks? Thats just way too long!

[HotI]

Can you opt for a test now, with a 24hr turn around instead of 2 weeks? Thats just way too long!

amnio is usually performed between 16 and 18 weeks, which may be why Naomi has to wait 2 weeks. CVS is the process that can be performed earlier.

[ana1984]

Hi Naomi,

I had a 1 in 68 chance of a DS baby and i opted for the CVS (i was 13 weeks pregnant). My Papp-A result was very high and that threw me in graet risk. I'm happy to say i paid for the quick results(FISH), i am relieved to say no abnormalities were found. It was the hardest and most stressful time, but in the end it all worked out. In future when i do my NT test, i will only be alarmed if there is a thick nucal fold, i don't think the blood is enough to get your risk factor up.

Good Luck with Everything.

[peonies]

Hi,

Also new to BB and so thankful that we live in a age were we can share our stories.

I'm 13 weeks and 25 years old. My risk came back as 1:110.

Being young i was so confident with this test but it is proving to be such a difficult time. I am considering anmio just for some peace of mind and it doesn't help that I am a serial worry wort!

Glad to hear positive stories about people having healthy babies and trying to get that positivity to pass on to me. I know i might sound crazy but I don't feel like this baby is sick.. or is that just all mothers to be? My gut feeling is that all is ok.. just the results keep telling me the opposite.

Wishing all mothers the best of luck and trying to stay positive.

[Rosie's Mum]

Hi Everyone,

I wasn't sure whether I should write this post and I really hope I don't upset anyone, first of all, all my positive energy is going your way. I hope you all have beautiful healthy babies.

I just wanted to say my younger brother is Downs Syndrome, he is 26 and the most amazing man. My husband sometimes says he wishes he was Downs because no one is happier than my brother. It has been a sometimes difficult road for my parents but so rewarding.

I am saying this because I want people to know having a baby with Downs is not a life sentence, they are the most beautiful people and they will bring you so much joy. In saying that I have NO judgement about people who chose to terminate and I cannot imagine the fear and anxiety you must be feeling and I have no idea what I would do.

And finally, my mother told me that she knew something was different with her pregnancy. Nothing big and she didn't focus on it because she was flat out with my sister and I but she and her friends who are mothers to Downs kids knew something was different. So I think if you feel your baby is healthy I bet he or she is.

Big kisses and love to you all.

[OceanPrincess]

Hi ladies,

My risk was 1:20 for downs or other chromosomal abnormalities. That was due, for us, to a thickened nuchal fold.

We are now the proud parents of a bright, bubbly, wonderful one year old, who has no chromosomal or other abnormalities!

If you can have the CVS, go for it, also go for the FISH test which will get you results a lot sooner.

Also - stay away from google, if you can. It is not your friend at a time like this.

Good luck, all the best.