One Tiny Heartbeat at a Time

My Turner syndrome story began in 1995. When I was 26 weeks pregnant, I went in for an AFP Plus / Triple Screen Test. My test results came back abnormal, so they had me come in for an ultrasound. When I arrived at the office where the ultrasound would be done, I met with a genetic counselor before the test. The counselor explained there are various reasons the scan would come back abnormal, including Down's syndrome and pregnant with multiples. She explained to me they didn't think that any of those were the reason, and that we would meet again after the ultrasound.

When the test began, I carefully watched the technician’s face for some kind of idea of what was going on. I asked a lot of questions that she of course couldn't answer, as she was not the doctor. But I could clearly see the concern on her face. I asked, "is my baby ok?" She said, "I need to go get the doctor; you have a very sick baby.” When the Dr. came in, he explained to me that every major organ was surrounded by 75% fluid. He said that due to all of the swelling, they could not tell the sex of the baby, and that the baby would not make it.

He offered to induce labor, so as not to hold off on the inevitable. I explained that although he said the baby would not make it, I wanted to give he/she every possible chance. I didn't want to induce labor.

They suggested I have an amniocentesis, because it was the only way they could know what was wrong with the baby, and the chances of it happening again. They said once the fluid was gone, they wouldn't be able to run the test, so I agreed. They said they’d contact me with the results, and in the meantime, to go back to my regular OB/GYN.

When I went in to see my regular obstetrician, she said the baby would die within 6 weeks, and that she wanted to see once a week so she could monitor the baby’s heartbeat until there no longer was one.

A few torturous days later, I received a call regarding the test results. The genetic counselor told me that my baby was a girl and that she had Turner syndrome. I asked her what the baby's odds of making it were, and she said "she won't make it, I'm sorry, but we have never seen a case this severe." I asked her to give me the percentage of a chance the baby would survive. Her response was "0%". I went in for my weekly appointments with the nurse practitioner, and at the 6th week appointment, she told me my baby was still progressing normally, and she wanted to send me back for another ultrasound.

GREAT NEWS! The fluid surrounding her organs had decreased by 90%! They then believed there was a good chance she might make it and had me switch to a neonatologist for the remainder of the pregnancy. The neonatologist explained to me that with Turner syndrome, it was likely she would have horseshoe shaped kidneys or a heart defect. I was sent to specialists to have those tests done.

Well, unfortunately, she did have a bicuspid aortic valve and a coarctation of the aortic valve. They explained to me that she would need corrective surgery within 24 hours of being born, or else she would probably die within a week. Fast forward to the day she was born. Labor was pretty smooth, right up to the end when her heart rate was dropping and they had to use forceps to guide her out. It was really hard going back to my shared room without my baby, who was in ICU.

But the next morning brought more GREAT NEWS! Her heart problem wasn't as bad as they expected and she would not need surgery. They still wanted to keep her in ICU for a few days, just as a precaution. After that, the office referred to her as "our miracle baby". Samantha is now a happy, healthy 23-year-old butterfly.

Additional Resources:

Navigate to the Turner Syndrome Society A Prenatal Diagnosis and Turner Syndrome webpage for more information and Frequently Asked Questions

Read/download the Clinical Practice Guidelines for the Care of Girls and Women with Turner Syndrome

Read/download the Patient and family friendly summary of the Clinical Practice Guidelines for the Care of Girls and Women with Turner Syndrome

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The Turner Syndrome Society's mission is to

advance knowledge, facilitate research, and support all those touched by Turner syndrome.

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