Our journey through a prenatal Trisomy 21 (Down syndrome) diagnosis and beyond

I wish it were possible to recognize at the beginning of our life’s story what an incredible journey we are truly on. If so, I would have sat down years ago and begun documenting all the ordinary and extraordinary events in this amazing life I have been blessed with. Sometimes, though, it may take just one more thing to open your eyes into the beauty of the life you have led and causes you to pause and truly count the blessings that are now so many they will never be enumerated.

If you are just joining us, please go back to September 2012 to get caught up.

Thursday, September 27, 2012

Follow-up with the specialists...

Waiting is not a particularly strong suit of mine.  I am learning, ironically through my children, about patience, but man, it is HARD sometimes!

In the time between appointments I really had a sense of calm.  Although I was anxious to go, I was more looking forward to some answers and moving forward from there.

September 4, 2012

That day Brian was able to come and we walked in ready for anything.  The tech doing the ultrasound was also very detailed and talked us through much of what she was doing and seeing.  Parts and pieces were all still measuring on track, so we were pleased about that.  She took a looooooonnnnnnnggggggg time looking at the heart.  I kept giving Brian the "oh no!" look and we waited while she went to got get the doctor. We did get to see baby in 3D, too, which is always incredible to me!

When the doctor came in they spent some time together looking at the heart and discussing quietly what they did/did not see.  The tech was unsure whether there was tissue between two of the heart chambers, but the doctor believed that he did see tissue, so he said that was nothing to worry about. Phew!  We knew from our research that heart defects can also be more common in babies that have DS.

The doctor then showed us the areas of concern.  They also did not see a nasal bone, which was the strongest marker.  In addition, they saw a bit of fluid around the heart and a dilated kidney.  The last two markers, he said, would not be of any concern typically- in an ultrasound he wouldn't even mention them- however, they are both soft markers for DS too.  Together, the puzzle was coming together.

He let us know that these are just screenings.  An amnio would give us a definitive answer, but we were unwilling to take that risk and lose the baby.

Our other option was a blood test.  They were newer on the scene, but would tell us with 99% accuracy whether there were issues with the top 4 chromosal abnormalities. The test we were offered was called Verifi.  It was non-invasive, just a blood draw for me.  We would know results in 8 days.  We decided to go ahead with this test, so that I could have peace of mind for the remainder of the pregnancy.

8 days.

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