Tuesday, January 11, 2011

Turner Syndrome

It was 7 weeks ago today that we found out that our sweet lil' peanut had passed away at 9 weeks gestation.  Today, we received the news we have been waiting for since that awful day - why it happened.

Our baby tested positive for a chromosomal disorder called Monosomy X, also known as 45 X but best known as Turner Syndrome.  Turner Syndrome is a chromosome disorder in which a girl has only one complete X chromosome (so we know that lil' peanut was a baby girl).  To help you visualize, I will give you a quick lesson in genetics.  When a baby is conceived each parent gives 23 chromosomes to make up the baby's genetic material; hence, the baby will have 23 pair or 46 chromosomes total.  In Turner Syndrome, the sex chromosome is either incomplete or missing entirely.  The majority of babies with this condition are lost to miscarriage or stillbirth.  It's actually quite common though, and is thought to be the cause of about 15% of all miscarriages.  This website was a valuable resource today as I was doing my own research.

My doctor feels at this point we need to see a high-risk OB for some further testing and evaluation before we try to conceive another child.  We are being referred to the UT Center for High Risk Pregnancies to Dr. Owen Phillips, who specializes in genetic counseling and recurrent pregnancy loss.  She sounds like a great doctor and I have two friends now who have been treated at this clinic and have had nothing but wonderful things to say about the group.  I will find out in the morning when our appointment will be.

Needless to say, Owen and I are extremely nervous.  It's known that about 15-20% of pregnancies end in miscarriage so our chances of conceiving again and carrying a pregnancy to term are about 85%, but once you've experienced more than one miscarriage those odds drop to about 75%.  I was really hoping to find that something had happened that I could prevent from happening again, but sadly, this isn't one of those things.  I can only pray that Dr. Phillips will be able to provide us with more answers and, hopefully, better chances at carrying our next pregnancy to term and having a healthy child.

I'll ask that you keep us in your prayers that hopefully this road that God is leading us down will be the one road that provides us with the most peace and comfort.