Wednesday, July 30, 2014

Genetic Testing Time

How time flies when you’re pregnant…well, at least for me it was.  I doubt my wife would agree.  We had quickly reached the 10 week mark which meant it was time, if we chose, to have the new non-invasive pre-nantal genetic testing done.   This is newer technology that is available for pregnant women who don’t want to have the invasive and often times dangerous amniocentesis, which can detect genetic abnormalities such as Trisomy 18.  There were a lot of new non-invasive tests that only required a blood sample and not only did they tell you about genetic abnormalities but they could also tell you the gender of your baby!  This allows you to know the gender way before you would be able to tell via ultrasound which usually cannot happen until week 18-20.  We knew right away we wanted this new testing done as we were both VERY eager to make sure there were no genetic abnormalities and to know the sex of the baby!  We had an initial meeting with a consultant who reps all of the different non-invasive test and she goes over the pros and cons of each one.  It was a little overwhelming but so fascinating to see how far science has come in being able to determine so many things so early on.  She went on to explain how during pregnancy, the mother's blood contains fragments of the developing baby’s DNA.  This test analyzes the DNA in a blood sample to predict the risk of Down syndrome (trisomy 21), as well as trisomies 18 and 13, in the pregnancy.  The test can also evaluate X and Y sex chromosomes which is how they can determine the gender of the baby…sometimes science can be so cool! 

After some thought, we decided to go with the Harmony test.  If you are curious to learn more about the one we chose, here is a link to their website, http://www.ariosadx.com/.  My wife and I were lucky enough to have great insurance and got this test mostly covered.  It was $200 out of pocket for us which is an expense we were happy to incur.  The only downside to this was that it can take up to 7 days to get the results back and let me tell you, those were the longest 7 days of our lives thus far!  It actually only took 5 days after the blood work to get the results reported.  The other awesome thing I forgot to mention was that in your initial consultation, if you decide to have the gender tested for, they give you options as to how they tell you once the results are in.  They give you the option of having them send you paperwork so you can open it together or they ask for which person gets the first phone call, if you want them to leave it on a voicemail, etc…  SO many options catered to each couple, which we loved.  We decided we wanted a phone call and we did not want them to leave a voicemail because we wanted to be together when they gave us the news. 

Longest 5 days ever had passed after the bloodwork when the phone rang at 7:30am on a Tuesday morning.  My wife and I were both startled awake when the phone rang and I answered it quickly.  It was our representative that we had our consult with and she said she had great news for us (insert initial sigh of relief).  She went on to tell us that there were NO genetic abnormalities and that we were going to have a baby GIRL!  WOOOOHOOOOOOO!!!!   My wife and I were elated with this news and our next phone call was to our moms to share the good news. 

If you can afford this test or any of the similar ones, I highly recommend it.  Of course, talk to your doctor about your options and what’s right for you and your partner, but it was such a relief not only knowing that we were having a healthy baby but that we were having a healthy baby girl :) 

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