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Genetic test question


Forum: High Risk Pregnancy

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  #1  
March 20th, 2014, 04:20 PM
pinstripedbabe's Avatar Veteran
Join Date: Jan 2014
Location: New York, NY
Posts: 105
Hi everyone. I apologize in advance if I'm posting in the wrong thread. My pregnancy is not considered high risk but I got some whacky test results on my genetic test and I'm trying to find some explanation. This is my first pregnancy and I'm having a hard time. Everything makes me nervous. I posted this is another thread and I got some great feedback but I still can't sleep over this so here's the dilemma....

On Friday I went for my 12 week sonogram and genetic testing. I got a call on Monday saying that they wanted me back in in 4 weeks for a 16 week sonogram because well, the results were normal but there was a difference between my sonogram and blood results that was unusual for someone my age. It showed a slightly increased risk for t13 and t18 (I'm 22 years old). After three hours of googling and crying, I called the nurse back to get a better idea of what is going on. She said the sonogram presented a 1:1892 chance of genetic disorder while the blood results presented a 1:1569 chance of genetic disorder. She reassured me that these numbers are in the normal range but a difference of 300 between the sonogram and the blood test is very odd for a 22 year old. Ok so what does this mean? WHAT in the world could have accounted for this difference and what does it mean for my baby?????
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  #2  
March 24th, 2014, 01:59 PM
rebeccabaltimore and more's Avatar (rebeccabaltimore)
Join Date: Feb 2009
Posts: 1,842
You actually came to the perfect place. I'm the host of this board, and my sister is a genetic counselor.

She's right, those numbers are both in the normal range. Do you know which genetic test you had done? Was it the quad screen or MaterniT21? (The quad screen is more common, MaterniT21 is pretty new.) The other thing - did they see anything on the u/s? In my second pregnancy I carried triplets for 14 weeks (Baby A is the handsome man in the siggy) and my daughter, Baby C, had Turner Syndrome. And they could see, even at 13 weeks, anatomical abnormalities. If they didn't see any problems visually, well that's a good sign.

I'll see if I can get a hold of my sister for you, she's at a conference but I might be able to ask her about the number difference. If I were you I'd schedule an appointment with your genetic counselor (not your ob, genetic counselors are better for this) and have her explain everything. Otherwise, just try to remember that your babies numbers are weird, but still normal.
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  #3  
March 26th, 2014, 06:30 PM
pinstripedbabe's Avatar Veteran
Join Date: Jan 2014
Location: New York, NY
Posts: 105
Thank you so much for the reply!! It wasn't the materniT21 so I guess the other one? I'm really not sure, they just drew blood and I saw the nurse blot it on a piece of paper. That was it. She said that the ultrasound showed no anatomical abnormalities but I'm going back at 16W4D so they can get a better idea. Thank you for your efforts in helping me <3
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  #4  
March 29th, 2014, 05:53 PM
rebeccabaltimore and more's Avatar (rebeccabaltimore)
Join Date: Feb 2009
Posts: 1,842
The test you had was an older test, and anomalies like this are more common than with the newer test. Having a clean u/s is fantastic!
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