Medical News: Noninvasive Genetic Testing

Osmosis Team
Sep 19, 2015

At Osmosis we believe in contextualizing what students learn in the classroom with what they need to know to be good clinicians, so periodically we’ll publish informative posts about the practice of medicine. Here’s one related to prenatal genetic testing.

In previous decades, prenatal genetic testing received criticism. Individuals assumed that if a parent was interested in genetic testing, they were only interested in creating the “perfect” child. Others believed that genetic testing only resulted in children being harmed. However, genetic testing doesn’t give parents the ability to create the “perfect” embryo, and new advances in prenatal genetic testing actually make testing possible without bringing any harm to the unborn child.

How it used to be

Traditionally, women who were interested in knowing whether or not their children may have genetic abnormalities had to have an amniocentesis procedure. An amniocentesis requires the amniotic sac to be punctured so that amniotic fluid can be withdrawn for testing. Although this test is effective and accurate, it comes with a number of risks.

Having the amniotic sac punctured is not natural and compromises the safety of the pregnancy. The amniotic sac provides a child with a sterile environment in which to develop and thrive. Once punctured, the sterile environment can potentially become compromised simply because of the minimal exposure to the outside environment. Women who have an amniocentesis test completed may experience leaking amniotic fluid and miscarriage. Pregnancies also run the risk of developing infection, needle injury, infection transmission, and Rh sensitization, which can result in premature birth or infant mortality if left untreated.

Are there safer genetic testing options?

Yes, there are safer prenatal genetic testing options. Non invasive prenatal genetic testing offers a safer way to know whether or not a fetus has a chromosomal abnormality. While there are different types of prenatal DNA tests on the market, more advanced ones only require a small sample of blood to determine whether or not a pregnancy may have chromosomal abnormalities.

These types of prenatal DNA tests looks for specific types of chromosomal abnormalities known as trisomies. Trisomies form when a chromosome does not replicate properly, producing three instead of a pair. Trisomies 21, 18, and 13 are a few of the more common trisomies with trisomy 21, the abnormality responsible for Down syndrome, being the most common.

Why is genetic testing beneficial?

Parents with a history of genetic abnormalities, mothers-to-be age 35 and older, and parents from certain susceptible ethnic groups are all at a higher risk of having pregnancies with chromosomal abnormalities. While this may seem daunting, having a prenatal DNA test completed in advance can actually help parents who have higher risk pregnancies be more successful in parenthood.

Should a parent learn early in the pregnancy that their child will be born with genetic abnormalities, parents can have the extra time needed to seek out additional resources and support to make parenting easier. Parents who receive knowledge earlier can also seek out additional education to learn more about their child’s disability and to learn more positive parenting strategies. They can even change the structure of their delivery environment to better suit the needs of their child. With early knowledge, parents can take control of their pregnancy, reduce stress, and be empowered.

Although operating in the medical field, non invasive prenatal DNA testing is actually a rather harmless and effective way to provide a child with better parenting. Without knowing about the health of their child prior to birth, parents could be caught without adequate resources or support services. Being caught unaware also typically leads to high levels of stress and feelings of being overwhelmed. Parenting is already a learning experience, full of navigational trials and tribulations. Early knowledge allows for better family planning, and parents who are more educated and less stressed are typically more levelheaded and more successful parents.