Learn More About Early Genetic Testing During Pregnancy

Learn More About Early Genetic Testing During Early Pregnancy

Learn More About Early Genetic Testing During PregnancyRichard Dawkins, an atheist, recently tweeted that mothers should abort their babies early in the pregnancy if they learn their baby has downs syndrome. Many parents are faced with the decision to get additional testing between weeks 11 and 14 called Nuchal Translucency screening (NTS).  This test is used to help determine whether a child is at risk for genetic disorders including downs syndrome. I personally opted not to do this test because I would love my baby no matter what, even if they were born with downs syndrome. I remember a ton of ladies opted for this screening in my birth group on baby center and the tests come back with markers. They opted not to abort for whatever reason and went on to have normal babies. The test can give both false negatives and positives.  If you do receive a positive test, talk to your doctor about additional testing before you make a decision.

Disclosure: This post is for informational purposes only. If you have any questions about genetic testing, please talk to your OB/GYN, midwife, or health care professional.

It looks like Richard Dawkins stepped in it again. Known for a few highly ill-considered, off the cuff remarks, he weighs in on genetic testing and Down Syndrome. The good thing that came from it was a heightened awareness of the issue. Many women were likely unaware that we can now detect such things during pregnancy. With this new awareness comes questions. This is an attempt to answer some of the most frequently asked?

How Early Can Testing Be Done?

Cell free DNA testing can be done as early as week 10 in your pregnancy, according to Sequenom. The test involves a small amount of blood from the mother being sent to a lab in order to test for the presence of trisomy 21 (Down Syndrome, trisomy 18 (Edward Syndrome) and trisomy 13 (Patau Syndrome). The tests are ordered by your healthcare professional and the results are delivered to their office in 5 days from the date the lab receives the original sample.

What Are the Different Types of Tests?

There are a number of tests that doctors can order for pregnant mothers and this is by no means an exhaustive resource, but rather a quick primer on what kind of testing is available.

  • Newborn screening
  • Diagnostic testing
  • Carrier testing
  • Prenatal testing
  • Preimplantation testing
  • Predictive and presymptomatic testing
  • Forensic testing

Prenatal DNA testing allows mothers to learn about genetic abnormalities such as trisomy 21, trisomy 18 and trisomy 13 before the baby is born. After week 10 of the pregnancy, doctors can order a test that will determine whether additional screening is required for these three genetic conditions.

Preimplantation testing allows us to learn about certain abnormalities before the embryo is even in the womb. That is because the eggs are removed, fertilized, tested, and re-implanted. During the testing phase, the embryos with defects are simply not re-implanted, guaranteeing only healthy embryos.

Predictive testing is done on people who have no symptoms of a particular disease, but may be genetically predisposed. If you have reason to suspect that cancer is in your future, you can find out with a much higher degree of certainty than your gut feeling.

What If the Test is Positive?

We have come to the crux of the matter. When it comes to prenatal genetic testing, what we are looking for are abnormalities that tell us if the baby will be healthy or disabled. If the baby will be severely disabled, you only have two options: You can continue with the process with knowledge of your baby’s condition, or terminate the pregnancy. In some countries, that decision is up to the mother. In other places, it is up to the state.

Trisomy 21 (Down Syndrome) obviously isn’t ideal, but it’s a condition that features a relatively high quality of life for those affected. In addition, although some developmental issues are normal, many go on to live relatively normal lives as high functioning There are many people who have it, and live happy and fulfilling lives bringing joy to themselves, and the people around them.

That said, the prognosis for trisomy 18 (Edward Syndrome) and trisomy 13 (Patau Syndrome) isn’t a bright. Many of these pregnancies result in complications, as well as very high infant mortality rates.

To some, genetic testing is a god-like power requiring them to make a god-like decision. It is definitely not for everyone. The real promise of genetic testing is not the hard decision it gives us today, but the potential to certain genetic conditions prior to birth. Surely, that is a god-like power which we can all get behind.

Image Credit: Flickr via Creative Commons

Did you have genetic testing done in your first trimester?


8 responses to “Learn More About Early Genetic Testing During Early Pregnancy”

  1. valmg @ Mom Knows It All Avatar

    My youngest has Down (no s) syndrome. Every child is normal for that particular child. Normal is a cycle on a washing machine. There are typical children and atypical children.I didn’t have any genetic testing done and wouldn’t change a thing. Not only am I parent but I am a very proud advocate who makes it their personal mission to correct misunderstandings and wipe out ignorance and offensive remarks. It will be my challenge until the day I die.

    1. Christy Avatar

      Yes, I agree with you. I know a little boy who has downs and he is a sweet boy. He is always happy. Even though they have challenges in life, they too can still be successful in life. Thank you for sharing.

  2. Czjai Reyes-Ocampo Avatar

    I read somewhere that early genetic testing is illegal in some countries. I think South Korea is one of them.

    1. Christy Avatar

      Wow, that is crazy how their government is still trying to control things.

      I have thankful for the advanced medical care, I had genetic testing on my daughter when she was 3. They wanted to see if her hearing loss was genetic. It ended up being negative but without the family history to support it, it made sense.

  3. Rebecca Swenor Avatar

    This is a great post and very controversial. I never had any testing like this done nor do I know if I would get the testing done. I have always believed what happens is suppose to happen. Thanks for sharing.

  4. Teresa Britton Avatar

    In my opinion testing is beneficial because you can be prepared if there is a birth defect. I would rather not be surprised. I would like the time to educate myself and prepare mentally. I could also research treatments, doctors, etc. ahead of time. I think testing is very valuable in that way. You can also prepare other children if necessary.

    1. Christy Avatar

      I can see your point as well. I thought about wanting to have it done but then decided against it. I was going to love my baby no matter what so it didn’t matter. I ended up having a healthy boy.

  5. Christy Garrett Avatar

    I am like you. I opted out of genetic testing with all three of my kids. I didn't want the stress of knowing when I knew who was in complete control anyways.