Hey Guys, it’s Emily here from MiaThrives!

I am 22 weeks pregnant and excited to start sharing some hacks about pregnancy and newborns. The first video of the series is sharing some information I gathered about genetic testing options. Since I have DDEB there is a 50% chance the baby will also have EB. One of the first questions my doctor asked me when I found out I was expecting is if I wanted genetic testing done. It was a tricky choice for me and I hope this information might help assist others in making whatever choice is best for them! Please keep in mind I am not a doctor and just sharing my personal experience.



You can watch the full video here or down below.

Early Testing

The earliest test option is a CVS (Chorionic Villus Sampling) this can be performed between 10-13 weeks. It takes some cells from the placenta that is then sent to a lab for genetic testing to determine if the baby has a genetic condition. The test is 99% accurate and there is a 1% chance of miscarriage.

Most Commonly Used

An Amniocentesis is a popular method that can be performed after 15 weeks, if you wait until after 20 weeks the risks decrease even more. Is it performed in a similar manner to the CVS, after an ultrasound is performed a small thin needle is inserted through your stomach and takes a sample of your amniotic fluid. The sample is then sent to a lab for genetic testing.

Notes

With either options you don’t get the results right away you must wait for the lab testing that can take an average of 2 days to 2 weeks. There are certain genetic conditions that can be detected by blood tests but unfortunately, EB is not one of them. The only two genetic testing options before birth is the CVS and Amino.

Click here for another youtube video I found helpful.

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