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Questions to Ask the Genetic Counselor about Trisomy 13

april rey trisomy 13

Bright and early this morning, I called to make an appointment with the genetic counselor. I wanted to make sure we got in today, as we had questions upon questions just nagging at us.

When the genetic counselor returned my phone call, I knew she’d be the right person to walk me through this.

Her background is in molecular biology. She is a geneticist that is also a counselor (obvious from her title, but comforting to hear her expertise was the science part).

I gave her a heads up as to everything I wanted to discuss in our meeting, and I told her I wanted it given to me straight. No sugar coating. I wanted everything upfront, and I wanted the data. I wanted the facts. I wanted the science.

We presented the genetic counselor with our questions, and she even brought out a science book and was showing us chromosomes. She did an excellent job and it was comforting to know the data.

Results of the Amniocentesis

The preliminary findings of our amniocentesis show that 97.5% of April Rey’s cells have an extra chromosome 13.

This number is devastating and means widespread bad news for our little girl. The final report will come in about a week, and will show April’s full chromosomal analysis.

It will tell us if this was a translocation from another chromosome, or mosaic trisomy 13 (both highly unlikely and still devastating outcomes).

It will tell us with greater accuracy the percent of affected cells. These tests don’t yield false positives, but do yield false negatives on occasion. Meaning the 97.5% has no chance of going lower… only higher.

The prognosis for April Rey is fatal.

The clean ultrasound was also in question to me. How could the ultrasound not show anything?

Often it isn’t until week 28 or later (and sometimes not at all) that the abnormalities start to show up.

It may look like just a little fluid around the brain, and that something is just a little off. Trisomy 13 is hard to detect on an ultrasound at times. It does not change April’s prognosis.

Organ donation is not an option for trisomy 13 babies.

Luckily we live in an area with some amazing hospitals, and they are going to contact Hopkins and GW to find out about donating April Rey’s body to medical research.

Our Options With a Trisomy 13 Diagnosis Explained:

Carry to term with no option of organ donation

April’s life would be momentary. We could obviously fight the fight at that point and put her on life support, undergo whatever surgeries she needed, etc., or we could let her go.

Up until around week 22, we can undergo an abortion procedure (D&E).

Depending on the hospital, I may or may not be under conscious sedation. April’s body would not stay intact during this process.

We can do an induction at any time.

This doesn’t always work to dilate the cervix, but it is our only chance of terminating and having April’s body intact. We’d get to hold her and have a moment.

She would most likely not be alive… this process would take place so early and she’d be so little that she’d pass away during the induction itself. She would not be in any pain.

The doctors are willing to do anything we want, and honor any of our requests. No matter which path we choose, it sounds like April will get to have a birth certificate.

We walked out with a wealth of information and, I think, feeling pretty secure with our direction. More updates to come soon.

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