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Trisomy 16q+ - Birth resulted in infant death.

by AnnaTurco, May 07, 2009 01:52PM
Hi, I have recently been through a very difficult time.  My husband and I lost our first born due to the rare genetic disorder Trisomy 16q+.  He was delivered by emergency c-section at 36 weeks.  Right after he was born he was placed in the NICU.  He survived only 7 days, my husband and I both had our blood taken for further tests to see if we are carriers of this disorder.  Trisomy 16 has been one of the hardest disorders to find information on. Most of the information I have found about our situation with the q+ has resulted in stillborn or death.  Our results should be in this week, I am sitting on pins and needles waiting for answers.  If we are carriers of this disorder what is the likelyhood of being able to conceive a child without this disorder?  If we are not carriers, was this just a fluke and we can try again?  I am scared right now being so fresh in the loss, my mind has been racing with so many thoughts.  I really want to have a child but am afraid of going through another situation like this.

Thank you and I look forward to hearing from you soon.
Member Comments (4)

by AnnaTurco, May 11, 2009 05:51PM
To: AnnaTurco
So the results came in.  My husband and I had a High Resolution blood test taken to further look into our chromosomes to see if we were carriers of any chromosome disorders or abnormalities.  Our tests came back clear, we have normal chromosomes.  I have to say I am still a bit scared to produce again as the first one was just so scary.  Anyone have any advise?  I am excited the results are good but what do I do to get myself prepared for pregnancy again?

Thanks.

by mammo, Jun 24, 2009 11:36AM
To: AnnaTurco
I am so sorry for your loss.  There is no loss worse than that of a child.  We have a genetic disorder in our family that is hereditary.  I would suggest that you meet with a Geneticist to discuss this, since it appears to be an inherited condition.  They can best advise you on your chances of having another child that would have the same problem, and answer any other questions you may have.  Then go from there.  I will pray that you can have more children, blessings to you both.

by mammo, Jun 24, 2009 11:38AM
To: AnnaTurco
I forgot to ask.  Have you googled "Trisomy 16q+?  This will give you a lot of websites to research this even further on your own also.  Plus, there is a gentic forum on here you can try.

by AnnaTurco, Jul 31, 2009 12:36PM
To: mammo
Thanks so much for responding, my husband and I had our High Resolution blood test which is an extensive chromosome test, the results came back clear, neither of us are carriers of the disorder.  The doctors have told us that sometimes there are just flukes when it comes time of conseption.  For us it was just a fluke, a very sad and unfortuneate fluke.  But we should be able to get pregnant again and hopefully the odds will be in our favor for the next one.

Each day is a new day, and I take each day to share my story to show strength to other mothers and families who have been through similar situations.  In the beginning I couldn't help but think that I was the only one and questioned as to why did it have to happen to us.  But as time has passed I have found that there are alot of people even people and friends close to us who have also endured a similar expirence.  It is a blessing to have such a great support where we are.  I just hope to give continued support to those who need it.

Thank you again.  
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