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Saturday, October 25, 2008

Trisomy 16

This was the reason our latest pg didn't work. Nothing we could have done or didn't do would have changed what was inevitable. This genetic disorder is with the baby not the parents and its not life sustainable meaning the baby would have never survived.
Here is more specific info:
Chromosome 16 normally occurs in cells as a pair of chromosomes, one inherited from each parent. But when it comes to chromosomes, as the old saw says, anything that can go wrong, will. Pieces of the chromosome can mistakenly be duplicated, or may break off and get lost, or there can be too many copies of the entire chromosome. Below are some of the disorders of chromosome 16.
Trisomy 16Instead of the normal pair, there are three copies of chromosome 16. Trisomy 16 is estimated to occur in more than 1% of pregnancies, making it the most common trisomy in humans. Unfortunately, this also makes trisomy 16 the most common chromosomal cause of miscarriages, as the condition is not compatible with life.

Sometimes there may be three copies of chromosome 16, but not in all cells of the body (some have the normal two copies). This is called mosaicism. Symptoms of trisomy 16 mosaicism include:
poor growth of the fetus during pregnancy
congenital heart defects, such as ventricular septal defect (16% of individuals) or atrial septal defect (10% of individuals)
unusual facial features
underdeveloped lungs or respiratory tract problems
musculoskeletal anomalies
urethral opening too low (hypospadias) (7.6% of boys).

Miscarriage occurs in fifteen to 20 percent of all pregnancies, and the risk of miscarriage increases with each successive pregnancy loss. Recurrent pregnancy loss (RPL) is defined as three or more consecutive miscarriages that occur prior to the ability of the fetus to survive on its own (usually twenty weeks).
Chromosomal abnormalities - Found in more the 50% of spontaneous abortions but in less than 1% of full-term newborns. The most prevalent type of genetic abnormality in abortuses is autosomal trisomy (50%), especially trisomies 16, 18 and 21 (Down syndrome). In about 5% of couples with RPL, one partner is found to have a balanced translocation (some of the genetic material from one chromosome is located on the wrong chromosome) and when this is passed on to the fetus genetic error can occur.

We are waiting now for the results of our RPL and praying that we don't have a balanced translocation which is basically a person usually has all the genetic material necessary for normal growth -- a piece of a chromosome is merely broken off and attached to another one. However, when that person's cells divide to create egg or sperm cells for reproduction, the egg or sperm cells can end up with extra genetic material or missing genetic material, which could lead to miscarriage depending on which chromosome and genes are affected
because there is no cure for balanced translocation, and in most cases, the only adverse effect on health is recurrent miscarriages. the treatment for this is usually PGD : the couple conceives via in-vitro fertilization along with gene testing of the embryos to be sure that they do not have an unbalanced translocation. PGD is very expensive, did i mention our insurance doesn't cover infertility?
yeah and also i can't got through with it even if they didn't simply because i don't believ in fertilizing eggs and the selecting the" best" to implant, to me personally that feels like i'm playing God, and although lately i don't think he even remebers who i am let alone feel his presence anywhere near me, i respect the creatin process and don't want to play with sort of speak. That said I would never knock anyone opting for this option i just personally couldn't do it.

4 comments:

Crys said...

oh I'm so sorry... I'm sure it's so heavy on your heart to have these answers. Of course there's nothing you could have done differently but I know it's hard. ((BIG HUGS)) P.S. Stupid insurance is good for nothing sometimes!

Anonymous said...

I'm sorry. If it's any consolation, regardless of what's covered by insurance, only you and your husband are the ones that can choose how you want to proceed. It's hard, and I can only imagine what you're dealing with. Hopefully you'll eventually have success with all you're doing to get that baby you want so badly.

Laverne Allison said...

Hi Vivian,

I came across your post today when I googled trisomy 16 miscarriage. See I just found out that our last (and 9th) loss was a result of trisomy 16. After I post this I'm going toread all of your post.I have met very few women who have had more than 2 losses because most women give up.It's nice (but I wish we didn't have to) have met someone willing to run this race too.

Neisha said...

I'm so sorry to hear about all of your miscarriages. And congratulations on your pregnancy!!
I have two healthy children ages 7 and 5. In 2008 we decided to try for another. Since October 2008 to December 2009 I've had 4 miscarriages, all in the 1st trimester.
I found out today that Trisomy 16 is the cause. My Dr. suggested that my husband and I talk to a genetic counselor. Guess we'll see how far we want to go. Maybe we'll decide to be done.
I'm so happy that you and your husband will be having a baby! How exciting