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Old 06-01-2008, 01:13 PM   #1 (permalink)
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Default Need some suggestions - Trisomy 16

I just found out our baby's chromosome testing came back with trisomy 16. The doctor was out & is going to call me on Monday but the nurse hinted out my DH & I going for genetic testing.

I've been trying to do some research on trisomy 16 on the internet but other then it being a "common" reason for m/c I have not found much.. does anyone have any info on it?

Is there anyway to prevent/avoid in the future?

Is genetic testing really necessary. Our 1 m/c chromosomes tested normal, our 2 m/c was a blighted ovum so we didn't test , we have a DD-healthy now our 3 m/c shows trisomy 16..

Was this "luck of the draw"? Also even if my DH & I are carriers what do we do?


Sorry for so many questions I am trying to do my research before my doctor calls so I can ask good questions..


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Old 06-01-2008, 01:37 PM   #2 (permalink)
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From what I have read about genetics, it would be extremely rare to be a carrier of Trisomy 16. In fact, the only way it could happen is if you or DH had something called gonadal mosaicism-- which means that your egg or his sperm cells had some cell lines which contained the trisomy. Because Trisomy 16 is not a survivable chromosome arrangement, it always leads to miscarriage and thus cannot be directly transmitted from parent to child. Most of the time, Trisomy 16 (and 13 and 18 and 21 and all the rest) are random errors that happen during meiosis.

It is hard though, and you do wonder. Last year I had a m/c due to Turner's syndrome and my daughter has an unbalanced translocation of chromosomes 3 and 7, which has caused her many disabilities. Since these two disorders are unrelated, I know I cannot be mosaic for anything-- however sometimes I wonder if perhaps my eggs and his sperm just don't line up correctly for some reason when we conceive a baby. From what I know, according to my RE, this condition exists in some women and it is called a "spindle defect." These women have more than average number of chromosomally abnormal conceptions and thus tend to repeat miscarry.

I hope you find the answers you need!
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Old 06-01-2008, 02:07 PM   #3 (permalink)
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Sherlynn--I am so sorry for the loss of your precious princess. I have undergone genetic testing and it is not bad. I lost my son at 21 weeks this past January and he looked perfect and we didn't know what happened. Well after his autopsy we found out my placenta was the cause of his death, but I had the testing done anyway and all they did was take like 10 vials of blood. All of my tests came back perfect and I have no chromosomal abnormalities. I hope that the testing gives you the answers that you need!

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Old 06-02-2008, 01:30 AM   #4 (permalink)
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Lots of hugs coming your way! I don't know about the likelihood of another trisomy, compared to any other couple, but a genetic counselor might help you feel more confident about going ahead for another try. Very best wishes coping with the new info! (((Hugs)))
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Old 06-02-2008, 04:08 PM   #5 (permalink)
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Thanks Ladies.. I talked to the nurse practitioner and I have decided not to go to genetic testing. I figured I already carry a 50-60% of M/c b.c of my PCOS what are they going to tell me that I don't already know..

Plus there is nothing I can do to avoid or prevent trisomy 16 from happening again.

So I am rolling the dice again. CD2 ..cross your fingers for me...
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7/8- saw - sac & fetal pole
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