Question about Down Syndrome testing.

[rebekah05]

Hi there,

My name is Rebekah and I am expecting my first child. I am 38. He is a boy, we just found out and are over the moon! Anyway I have been doing research on DS because I would like to be prepared and perhaps get more education and take classes if our son has DS. I was given a 2 part blood test and 2 ultrasounds to screen. My 20wk scan was a level 2. My doctor who is wonderful and has a son with down syndrome said he never saw results like mine and have a patient go on to have a child with down sydome, however his wife had a good ultrasound too (but no bloodwork)

I felt really confident but then saw another woman who was given the same odds as me and had a child with DS. I was wondering if you can share your test results and stories with me. I want to be prepared either way, but do not want an amnio due to miscarriage risks and since my doctor advised me not to get one. I just want to be the best mom I can be.

 

[Marleysgirl]

I turned 40 while pregnant with our little boy. The triple blood tests showed that I had a 1 in 5 chance of having a child with DS. We declined the amnio on the grounds that we wouldn't do anything different even if we did know; I read up a little about DS; and we then continued to enjoy my pregnancy with the optimistic attitude that there was an 80% chance our son wouldn't have DS.

He doesn't. He was born extremely premature, and has other problems, but no chromosome disorder.

I think you are taking the best approach if you don't want an amnio: hope for the best, prepare a little for the "worst".

 

[rebekah05]

Oh, by the way my odds are 1:10,000.

Thanks so much Marleysgirl. I hope your LO will be well.

 

[flashy09]

I honestly think you can relax. I have spoken to many mothers of Down Syndrome babies (best friends works with special needs children). They would say they had "no signs" and I would be intrigued and get talking to them and most just had the 20 week ultrasound that showed no soft markers. The nuchal scan at 12 -13 weeks combined with blood taken in the first and second trimester is very accurate. So if you had a good nuchal fold measurement and two blood tests PLUS the 20 week level 2 ultrasound and your odds are 1 in 10,000.....you have nothing to worry about.

 

[rebekah05]

thanks flashy09. Your child is stunning!

 

[vintage67]

I had my first son at the age of 36. I was given a 1:23 chance of DS; he doesn't have it.

I had my second son at the age of 44. I was given a 1:167 chance of DS; he doesn't have it.

We declined amnio both times. It took 2 years to get pregnant with my first son and 4 years and 3 miscarriages to have my second son. I wasn't going to risk miscarriage with an amniocentesis. I also did a lot of reserch on DS so that we could be prepared.

It's true that "good" blood work results and even "good" ultrasound results aren't a total guarantee of the lack of DS.

I was most reassured by positive stories of DS children, including the younger brother of a childhood friend. He is in his 30's now; has a high school diploma, drives a car and works in a hardware store. His mother was 45 when she had him.

Best wishes.

 

[FunkyVine]

Our baby Kimberley was born with Trisomy 21, Down's Syndrome. She is absolutely gorgeous and all the midwives and healthy professionals just love her. She gets loads of special attention!! We were pretty certain of her diagnosis with a nuchal of 4.9mm. We were scared at first but met other mums and dads of Down's babies.... it convinced us to continue with the pregnancy. There's so much a Down's child can achieve these days with the care, love and understanding of good parents and health professionals. Lots of love
PS. we didn't have amnio - so we were not certain of her diagnosis, but I knew when she popped out cos of her beautiful almond eyes xx

 

[lottie77]

Hi my daughter Rebekah has Down Syndrome ,Iwas 33yrs old and my odds were 1 in 28 and her nuchal fold at 13 weeks was 2.5mm and we had 3 scans from a consultant and there were no soft markers at all or anything for that matter to indicate Down Syndrome , infact she was longer than a average and heavier than average from 26 weeks onwards , so I was told not to worry as there were no signs but obviousy when she was born 1 week early at 8lbs 12oz she did indeed have Down Syndrome.
She has no health problems at all and is extremely bright , shewears aged 2 to 3 years clothing at 16months because she is so tall and so farshehas been no more difficult to care for than my other 2 children

Its easy for people to try and reasure you, thats what everyone did with me, but you must remember to keep your mind and heart opened to all the possibilites x