An Answer from the Amnio

Wednesday, December 23, 2009

Sean posted this to our other blog, so I thought I'd repost here, too.

I am going to attempt to explain in this blog what has been confusing the doctor's since we began. Forgive me if I am too technical, all I am doing is copying information from other websites so that you may be informed. So here we go:

A few weeks ago the doctors took some amniotic fluid from Sheyenne's belly (that's real technical I know) so that they might run some tests in order to determine what is wrong with Whitney. They called us yesterday with the results. They determined that our baby has a genetic disorder called Triploidy. Here's the best way I can describe it... Genetic abnormalities such as Downs Syndrome or Trisomy 18 are conditions caused by an extra copy of one particular chromosome. Triploidy is an extra copy of ALL the chromosomes. Here's a more technical explaination:

"Triploidy is a rare lethal chromosome abnormality caused by the presence of an entire extra set of chromosomes. A fetus with triploidy has 69 chromosomes, rather than 46. The majority of fetuses with triploidy are spontaneously miscarried during pregnancy. Those that survive until birth will have severe growth retardation and multiple birth defects. This condition is incompatible with life."

"Triploidy is a devastating condition caused by having a full extra set of chromosomes. This extra set of chromosomes causes a variety of serious birth defects, placental problems, and severe growth problems in a fetus. In fact, most pregnancies in which the fetus has triploidy end in a spontaneous miscarriage. Very few infants with triploidy survive to term. Of those that do, most are stillborn and those that are born alive usually die shortly after birth. Infants with this lethal condition are generally small due to severe intrauterine growth retardation (IUGR) and they have multiple birth defects, including facial abnormalities, such as cleft lip, heart defects, neural tube defects (spina bifida), and other serious birth defects. The exact pattern of abnormalities depends on whether the extra set of chromosomes was inherited from the mother or from the father. Unfortunately, there is nothing that can be done to treat or cure triploidy."

It is said that Triploidy happens in only 1-2% of ALL conceptions, which makes me laugh because it feels like that makes sense for us. Another stat is 1 in 10,000 make it this far in the pregnancy because most babies die after only a month in the womb.

So where does this leave us now? That really is a great question because we don't really know that answer. As we have been, we will continue to wait and see what happens. We know that the doctors will not do anything "heroic" to save Whitney if she is born alive. I think I can speak for both me and Sheyenne that all we want is to hold our baby girl. So that continues to be our prayer to God, that he would allow us to hold this precious life that we have been so excited to see.

Last night I got to feel her move in Sheyenne's belly for the first time! It truly warmed my heart and now I know that my Christmas wish has come true. Thank you for continuing to read and we will continue to update this as God continues to teach us what we need to learn.

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