CVS: a sanitary, legal stabbing

Chorionic villi sampling. It felt as barbaric as it sounds. My husband and I went to Brigham & Women's last Thursday morning, May 28 for an 8am appointment. We met with a genetic counselor first and she was great. She explained to us that if the fetus is female, we would not be able to test to see if she's a carrier since she is technically a minor and unable to make her own decisions. Very interesting! We had never thought of it that way before. Also, as Tony reminded me to think positively, if the results were for a boy, it could just as easily (50-50 chance) be a healthy boy and then we wouldn't have to worry about a daughter carrier as well.

After our appointment with the counselor, we went into the procedure room. The tech brought the fetus up on the ultrasound screen (which was really neat) but we told her we'd like to hold off hearing the heartbeat. We were very cautious to avoid actions that could emotionally attach us to the baby. We were scared it would be an infected boy and we would be forced to terminate the pregnancy.

The procedure didn't take long but it was certainly painful. It wasn't "uncomfortable" like reports I'd read. It was awful. I closed my eyes and held my husband's hand. Afterward, he said it was a good thing I didn't open my eyes because the needle was 6-7 inches long. They popped (it really made a pop noise) a thicker but shorter needle into my lower abdomen then inserted a thinner but much longer needle through the middle of the shorter needle. I could feel the doctor breaking up part of the placenta to retrieve the villi. Tony watched in person and on the ultrasound screen. He said the villi were bright pink. He also sounded very impressed by my pain tolerance and courage. It was all over in about 2-3 minutes.

The fetus at 11wks looks like a deformed lima bean. :) our lima bean

CVS info: http://www.mytestingoptions.com/testing/tests-by-name/chorionic-villi-sampling/mto_testing_tests-by-name_chorionic-villi-sampling.asp

Ahhh the Genetics

On the ride into the doctor's office years and years ago (I was 13 maybe), my Mom told me the story of my family's shitty genetics. Women in my family carry x-linked myotubular myopathy, which is passed to offspring 25 percent of the time (50 percent of males). Since learning this, I always worried about having a healthy pregnancy and a healthy baby.

Now that I'm pregnant and a confirmed carrier, my husband and I have decided to test the earliest way we can: chorionic villi sampling. I spoke with a genetic specialist at the one of only two labs in the country that tests for myotubular myopathy (University of Chicago) today and his news was disappointing. Four weeks from now at week 10, I will have the CVS procedure. Using a "quick test," the lab will be able to tell if the sex chromosone is a male or female within 24-48 hours. If female, we are home free (although she may be carrier like me). If male, the cells will be sent to UMass to cultivate then to the U of Chicago for testing. Results won't be back until I'm 13-15 weeks pregnant. I was hoping for more like 11-13 weeks. The last thing in the world I want to do is have to end this pregnancy. But even worse than that would be to continue to full term and watch my baby die within 2 weeks. Babies with severe x-linked myotubular myopathy are born ventilator-dependent. I want my baby to have the best chance we can provide!