How Genetic Testing During Pregnancy Arms Parents with Critical Knowledge

If you follow any mom blog or belong to any parenting Facebook group, you will periodically see the subject of non-invasive prenatal genetic testing (NIPT ) be raised, only to result in much debate. Many moms-to-be will state that they’d rather not be screened because of issues such as false positives that cause unnecessary stress, and the belief that these tests are only for moms who plan to terminate their pregnancy if an issue is detected. However, many pregnant moms are not aware of the potential benefits to babies with certain genetic conditions when these conditions are discovered before birth.

How Does NIPT Work?

According to the Mayo Clinic, non-invasive genetic testing works through a simple blood draw from the mother during the first trimester of pregnancy. The test captures small fragments of fetal DNA in the mother’s blood to be tested and screened for trisomies such as trisomy 21, or Down Syndrome, Trisomy 13, Trisomy 18, and sex chromosome aneuploidies such as Trisomy X (XXX) syndrome in females, and XXY syndrome in males. (Klinefelter’s Syndrome) While the accuracy of these tests varies with each genetic anomaly, if anomalies are suspected, invasive tests with more accurate results such as amniocentesis and CVS testing can be performed to confirm. In some cases, parents choose to wait for tests to confirm after birth.

How Can These Test Results Help?

While some pregnant moms believe that there is no point in knowing the genetic makeup of their unborn child before birth if they don’t plan to terminate in the case of a disorder, it’s important to note that some of the conditions that NIPT testing picks up can offer parents crucial information at the earliest possible stage, and this information can arm them with knowledge to help ensure the best possible outcome for their child. And who doesn’t want that? Isn’t this why we stop eating sushi and start taking the best prenatal vitamins we can find? We do what we can for the best outcome for our babies.

Sex chromosome anomalies in particular are difficult to diagnose without genetic testing. According to the Focus Foundation, 1 in approximately 650 males are born with an extra X chromosome (47XXY or Klinefelter’s Syndrome) and of those cases only around 25 percent are diagnosed. This is because there are no easily recognizable physical characteristics. The range of symptoms are typically mild, and can be misdiagnosed as individual issues, with the umbrella of the genetic disorder causing the various complaints to be completely missed.

Knowing that a child has XXY, or the less common anomaly in females known as XXX, which has similar issues with speech and motor skill delays, means parents can familiarize themselves with common childhood symptoms and be prepared with early intervention for such issues as speech and language delays, and mild motor control delays. Early intervention in these areas can allow a child with these chromosome anomalies to live a full and normal life, and help them to develop along with their peers with little or no delays.

Parents with children diagnosed with disorders such as XXY syndrome or Trisomy X, tell us that researching the best interventions to help their children's development after birth is more important than the many other things expectant parents research, such as which are the best diapers, and bottle feeding vs breastfeeding.

Early intervention for these issues often include speech language pathology therapies and such simple at home interventions as finding the best toys to promote both gross and fine motor skills.

Availability for These Important Screenings is Increasing

While initially these tests were only covered by medical insurance for women at high risk, such as women of advanced maternal age, today, many insurers are expanding coverage of the test to include younger women, which means more children with mild genetic disorders who can benefit from early interventions can be identified and benefit from the fact that their parents armed themselves with helpful knowledge before they were even born.

Resources— WashingtonPost, humangenomics.com, ucsfHealth.org

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