Down Syndrome/Trisomy 21

Hi all-

This is my 1st time posting and I was hoping you all could give me some insight. My name is Megan and I'm 29 years old. I have 1 daughter, Aubrey, who is 2.5 and am 19.5 weeks pregnant with our 2nd, a boy. I'm considered high-risk because I've had Type 1 diabetes since I was 11 and had preterm labor with Aubrey (she was born at 35.5 weeks and spent 1 week in the NICU).

I've been followed closely this pregnancy by my OB and endo (who manages my blood sugars) and had multiple ultrasounds showing all is normal. I didn't do the NT testing or 1st trimester blood work as diabetes can skew the results. I had my blood work for my AFP or quad screen (Its quad screen in CA where I live) drawn last week. I went in to my high-risk peri on Tuesday for a level II growth ultrasound due to my diabetes (I get 1 a month). The peri isn't great in my opinion-was off on his measurements of Aubrey by 2.5 lbs and has horrible bedside manner but he's who my OB works with so he did my ultrasound. He measured the nuchal fold and said it was borderline high. During the 2nd trimester it should be less than 6mm and it was 6.2 and then 5.4, 5.5 and 6.2 again on subsequent measurements (avg =5.8). Because of that, he said the baby may have downs and recommended an amnio. Everything else was normal-heart, kidneys, bowel, femur and the baby is actually measuring big with the femur bone measuring 4 days ahead. We planned to do the amnio yesterday but then Wed afternoon my quad screen came back. It was completely negative with my risk of Down Syndrome being 1:7500. After talking with my OB, she felt that the risk of miscarriage from the amnio (1:200-1:400) was higher and since we only have the 1 "semi-high" nuchal fold measurement and don't plan on terminating the pregnancy regardless, we opted out of the amnio. I saw the peri again yesterday and he re-did the ultrasound and got the same measurements-right around  6.2. He also looked closely at the babies face and was able to visualize the nasal bone which he said is a good sign? He said that I could be that "1 in 7500" and should have an amnio regardless so I wouldn't get "stuck raising it for the rest of its life". Needless to say, we are finding a new doctor....

So, we found a doctor in Pasadena, CA who does whats called a genetic ultrasound. His website is www.fetal.com  He looks for 15 markers that are present in babies with Down Syndrome and can predict with almost 97% accuracy if the baby will have Downs or not. We're seeing him later today. If he finds more markers of Downs, we will most likely do an amnio at that point just so we can prepare and begin to process it all.

Now, my questions ;) Have any of you had a genetic ultrasound? Have any of you had a completely negative AFP/quad screen with risks as good as 1:7500 and still had a diagnosis of Down Syndrome? A close friend of mine has a child with Down Syndrome that was diagnosed at birth and her AFP was negative but her risk factor was much higher than mine-1: 240 (that was 11 years ago and was considered negative at the time). Is visulizing the nasal bone a good sign? Any thoughts or advice? Thanks so much!

Megan

Congratulations on your baby!!!

I didn't think that a NT measurement in the second trimester was very reliable but I really don't know for sure.  The doctor doesn't sound very nice.  I wouldn't trade my Esther for anyone, nor would I wish her ds away.  She has been an amazing light to our family and we adore her for who she is, Esther.

The fact that your baby's femur is measuring ahead, I think is a good indicator that he most likely doesn't have DS.  People with DS do have shorter femurs.  My baby wasn't diagnosed prenatally eventhough I had multiple Level II us for a two vessel cord.  On several occasions they mentioned that her femurs were a little short.  I am short and my husband isn't very tall, 5'10 so they dismissed the short femur. 

Good luck.  I hope you get the outcome you wish for.  

Who knows if perhaps you were made queen for just such a time as this? Esther 4:14

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A baby is a gift from God no matter the packaging.

Esther

It is true that second trimester NT measurements are generally considered very unreliable.  There's a post about that somewhere...maybe I'll go hunt it up...it had a bunch of links that I found at that time.  Anyway, you sound like you've got a good plan.  I did not want to risk amnio after I had only a slightly elevated quad screen result, so we just continued on without a diagnosis.  In my case, I'm SO glad I didn't get a prenatal diagnosis, but I know not everyone feels that way.

My u/s, regular and level 2's, were all totally fine, and Braska doesn't have the "fat pad" on the neck, which is what the NT is looking for, so hers was perfectly normal.

I'm not familiar with the "genetic ultrasound" but I'm curious about it.  The 15 markers are things we're all familiar with, but I'm very surprised that someone says they can see them all via u/s at 20 weeks.  I looked over his website, and I admit I'm still not sure what to think.  I would love to know how it goes for you and what your findings are.

I wish you the very best, no matter how many chromosomes your precious one has! :o)

RK
AKA Braska's mom

Nebraska Larae 11/21/06 DS
--AV canal repair 2/28/07
--G-button 9/10/07
--Glasses 12/24/07
Kinlee Carene 02/09/09

Braska's blog http://braskabear.blogspot.com
RK's blog http://justrk.blogspot.com
Kinlee's Blog http://kinleecarene.blogspot.com

Welcome Megan!

I already responded to your message over on another DS board, but we are glad you are here!

Missy and Violette

Hi there,

I had "normal" blood work results and a "normal" NT scan.  20 week ultrasound revealed mild renal pelvic dilation (dilated kidneys) which is a soft marker so I was followed every 6 weeks by level II ultrasound.  No other markers were found and the kidney dilation resolved itself by my second ultrasound.  I had a one in 300 chance of having a child with DS.  I guess I just happened to the one :)  IMO and after my experiences I am honestly skeptical of any screening methods used (not sure how this doc can claim a 95% accuracy rate, but OK).  The only way to know for sure is through an amnio.  It is a personal decision if the risk is worth it to you or not. 

Congrats on your pg and GL!