Help my SIL. Possible Down's diagnosis in 2nd tri?!

katea81

Okay ladies, my SIL is in some serious need of 2 things: prayer and advice. She is 16 weeks with her first baby and everything has been going ok. She had normal results on her nuchal test and the follow-up blood work, but in her latest round of blood work her results came back 'abnormal' for Downs. They told her that based on the results she has a 1 in 5 chance. They are going back tomorrow for another round of blood work that will give them a 99.9% accurate reading of whether it's a Down's baby or not. 

Is this normal? Did anyone have a normal nuchal in the first tri and then an abnormal result in the 2nd?  

Pray for her. She's freaking out.  

88eve88

First of all ... lots of T&Ps to your SIL!! 

However, it is my understanding that blood work cannot give a diagnosis.  It can only *screen* for it and tell you how high your chances are.  So, if she's going back for another round of blood tests tomorrow, they won't be able to give her a 99.9% accurate reading. I believe only an amniocentesis can give her a definite answer and that can't be done in a day.  

With the blood work, there is such a high chance of false positives, so while I'm sure she's flipping out, I don't think there's cause for concern just yet.  I'm hoping it's just a glitch in the testing and when they redo her blood work tomorrow, everything will be fine.  Fingers crossed!

sooner1981

Actually, they have a new blood test called MaterniT21 that can definitively diagnose Downs and, I believe, Trisomy 13/18 within 99% accuracy.  That is probably what she is doing.

Lots of thoughts and prayers.  My understanding is that if the odds are that high, that if there is not a trisomy issue, there could be something wrong with the heart or kidneys that are throwing the blood work levels off.  Whatever it is, I will have them in my thoughts and prayers--that is scary to go through. 

My cousin was just born with an incredibly complex heart condition and had to have open-heart surgery as a tiny infant.  He now has a pacemaker, but you would never be able to tell that he was ever as sick as he was!  He is a little 15 month old ball of energy!

katea81

sooner1981:

Actually, they have a new blood test called MaterniT21 that can definitively diagnose Downs and, I believe, Trisomy 13/18 within 99% accuracy.  That is probably what she is doing.

Lots of thoughts and prayers.  My understanding is that if the odds are that high, that if there is not a trisomy issue, there could be something wrong with the heart or kidneys that are throwing the blood work levels off.  Whatever it is, I will have them in my thoughts and prayers--that is scary to go through. 

My cousin was just born with an incredibly complex heart condition and had to have open-heart surgery as a tiny infant.  He now has a pacemaker, but you would never be able to tell that he was ever as sick as he was!  He is a little 15 month old ball of energy!

Yes, Sooner, that's the test she's going for tomorrow. Scary.  

Mar5195

T&Ps for her.  Scary stuff!