Abnormal Female

Thursday, February 05, 2009

These were the results of our genetic testing of our baby. We had a little girl with Trisomy 16. I haven't had a chance to discuss this with our doctor yet, but from my mad googling, I have learned it is the most common cause of miscarriage. We have not found out yet if our Trisomy was a full or mosaic. A full trisomy, the chance of recurrence is 1%, with a mosaic, it has a greater chance of recurrence. I am dying to talk to the doctor to see if I can find out if ours was a full or mosaic. I have a call into one of nurses with follow up questions. The good news is that it does not appear to be a structural choromosome issue at this time which would have indicated more of a permanent problem with one of us. Here is the most generic definition I have found:

Trisomy 16 is the most common autosomal trisomy seen in miscarriages and accounts for at least 15% of first trimester miscarriages. Most pregnancies with trisomy 16 are lost around 12 weeks although a small percent may be lost in the second trimester. A few fetuses with mosaic trisomy 16 have survived until birth. Most of these infants have growth failure, psychomotor retardation and die in infancy.

13 comments:

  1. thank goodness it isn't a structural chromosomal issue...my friend and her husband lost their one-month baby girl last year because of that...they should have been genetically tested. It is really good that you are finding out the information now before you get pregnant again later. Let us know what the nurse or doctor says.

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  2. Knowledge can be the best coping mechanism. Thinking of you guys! I hope you get positive news and please keep us updated.

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  3. I am glad that you were able to get some answers and I hope you touch base with your doctor in order to ask your others questions. I know this is still hard for you and I pray that God will grant you peace during this time.

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  4. I really hope you can get answers from all of this. ((hugs))

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  5. I'm glad you got some answers and although this wasn't the best scenario, it sounds like there's still a really good chance next time around that you will have a healthy beautiful baby. The genetic testing is so hard to understand, for me anyway, so you pick your doctor's brain until you get the answers you're looking for. Keep us posted. Thinking of you!

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  6. I am so glad you got some answers and that it was not a structural chromosomal issue. I am sure you will get the answers you need from your doctor and you can move forward from here. Keeping you in my prayers!

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  7. What terrible news! While I am glad they were able to do the testing and (hopefully) provide some answers, I am positive you are stressed to the max over this. I will say a prayer for you and cross my fingers your questions are answered quickly so as not to be tortured by waiting.

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  8. You have been tagged: 25 Random Things. Once you've been tagged, you are supposed to write a note with 25 random things, facts, habits, or goals about you. At the end, choose 5 people to be tagged. If I tagged you, it's because I want to know more about you.--Amber

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  9. Wow, I'm so impressed with our level of technology. I'm anxious for you to learn if you can know if it was full or mosaic.

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  10. I'm glad your found out so much information by yourself. Good luck

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  11. I'm sorry to hear about your baby. I just found your blog and was reading your story. I hope it's the autosomal type and pray that you are able to conceive again soon. My hubby and I have one daughter, but have been unable to have a 2nd. We have been trying for 8 1/2 years. I know it's not the same as your situation, but I do know the pain of getting that positive only for it to be taken away. I will definitely keep you and your family in my prayers. Good luck!

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  12. I am so sorry to hear about this...but I am glad you have some answers. It is so sad. :o( I will pray for you that you will have a healthy and happy baby soon!

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  13. i am so sorry that you are struggling with this, the PP have wonderful advice so i am just sending you hugs and prayers

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