Saturday, June 11, 2011

Turner's Syndrome

Kelly's Korner is having a Show Us Your Life blog link-up for families with Special Needs.   Since Caroline is considered "Special Needs" I thought a little write up about her would be perfect.

This beautiful, perfect, little girl has Turner's Syndrome.  She is missing one of her X chromosomes in all her cells, so she has full Turner's. Some girls have mosaic and are only missing the X from a percentage of cells.

How did we find out?  She developed a Cystic Hygroma during pregnancy (10 weeks) that led to many ultrasounds and trips to the perinatologist.  The Hygroma did resolve on its own at 19 weeks. But since it was present during the pregnancy, they gave us a 1-51 chance for Down syndrome and the possibility of Turner's.  We opted out of the amnio and found out at birth that she had swelling of her hands and feet  which are classic signs of Turner's.  Here is some info:

1. 1-2,500 girls are born with this chromosome abnormality each year.  The survival rate of girls diagnosed during utero is only 10% before 24 weeks.  After 24 weeks, the survival rate increases.
2. It can cause a coarctation of the aorta that needs to be repaired a birth.
3. Short Stature. 4'8" is the average without growth hormones.  Some girls are shorter, some are taller.
4. Horseshoe kidney
5. Small fingernails & curved up toenails.
6. Infertility.  Girls with full Turner's can't have children without IVF .  Some with mosaic Turner's maybe able to get pregnant.  Studies have shown that there can be heart complications in women with Turner's if they choose to do IVF.
7. Turner's is the only chromosome abnormality that does not cause mental retardation.
8. Many girls go undiagnosed and aren't diagnosed with Turner's until their teenage years when trying to find a explanation for them being short.  Many women find out when they are trying to conceive and are unable to get pregnant.

We are still only 7 months into this journey.  We are thankful that Caroline's does not have any heart or kidney issues at the current time. She is fighter and our little miracle.  Just like her older sister, she is going to do great things one day and be a remarkable person despite the fact that she only has 45 chromosomes. 


  1. Found you through Kelly's Korner! What a beautiful little angel you have. My son, Jack, has Klippel-Trenaunay Syndrome. Doctors spotted a large lymphangioma during my pregnancy. Turner's was mentioned as a possibility, but turned out to be something else. Continued prayers for your family as those beautiful girls grow!

  2. Thanks for sharing your story and telling about Turner's. I came over from Kelly's Korner. My friend has a daughter with Turner's, and she is the most precious thing -- she loves all things princess and dressing up, and she is SO smart! Your daughter is beautiful!

  3. I just found out my three year old has Turner's syndrome. She has always been very tiny, and her first pediatrician never worried, so we took her to another pediatrician, and he ordered the chromosome analysis. Your daughter is beautiful! We still have not been to the geneticist or endocrinologist, so not sure what type she is. She seems to be pretty mild because her only symptom seems to be her small size. Thanks for sharing your story.

  4. What beautiful little girls.
    Thanks for sharing Caroline's story. Definitly a little miracle!!

  5. Thank you for sharing about Turner's Syndrome. I found out my baby had a cystic hygroma at 19 weeks, along with full hydrops, a hole in her heart, under-sized lungs, etc. I ended up having her through a still birth at 23 weeks. Genetic testing showed she had Turner's. I'm so glad to hear about a baby in a similar scenario is doing so well. The stats you shared were really helpful. Thanks again.