Should You Get Genetic Evaluation Done While Pregnant?

During your pregnancy, it is normal to seek the advice of older and more experienced mothers to help you better know what to expect. However, technology rapidly changes these days, and what might seem like a common question to you may be something the previous generation didn’t even have access to. Such is the case with prenatal genetic testing.

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You likely have many questions when it comes to prenatal testing. For instance, are there risks involved, either to yourself or your future children? Are there complicating factors that may necessitate different options? What options are actually available to an expecting mother? Let us take a look at these and other questions you may have about genetic testing during pregnancy.

What Is Genetic Testing?

Genetic testing can broadly be defined as a medical evaluation that detects any changes in your genes or chromosomes. This can be useful to detect hidden mutations that can lead to inheritable disorders or conditions. For example, finding out that you have chromosomal abnormalities or genetic differences might give you an early alert that future children may have Down syndrome or that your family is at risk for protanomalous colorblindness.

Just as every human is unique, every person’s genotype is different. Nevertheless, there are flags and conditions that are uniform across the species which let us know how they will develop. Getting genetic testing done is a way to peek at the “blueprints” that make you up, which can lead to informed medical decisions about your children’s health.

What Types of Genetic Evaluation Exist?

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Two main types of genetic evaluation exist. These genetic evaluations are screening tests (which seek to detect any potential risk of developing genomic issues) and diagnostic tests (which are intended to narrow down and identify existing genetic issues). Genetic screening is a broad overview of your genetics, while genetic diagnostics is a focused zoom on any discoveries made during screening.

Most genetic evaluations focus on three areas: genes, chromosomes, and proteins. A screening of those three will let you know where your risks lie, whereas a test will let you know more about those risks and what can be done to mitigate them. For this reason, genetic screening is strongly recommended for newborns, if only to determine what issues they may face growing up.

Are There Any Risks?

Like any medical procedure, there are always some risks involved in genetic evaluation. Very rarely, prenatal testing carries a chance of miscarriage, as the procedure needed for an amniotic fluid draw (called “amniocentesis”) is inherently invasive and may be disruptive to an extremely sensitive embryonic ecosystem. Conversely, NIPT (non-invasive prenatal testing) is largely regarded as safe for both the mother and her unborn child.

Who Should I Talk to About Genetic Testing?

Genetic evaluation is a decision that you should make only after being informed of all the risks and potential rewards involved. A genetics counselor is the best person to talk to, as they are professionals who know the field well and are trained to present that information to you in a comprehensive, but comprehensible form. Speaking with a genetic counselor can help put your mind at ease and allow you to better understand your options following your prenatal genetic screening. In turn, you’ll not only be better informed about what the results mean, but also about how you can best approach these risk variables.

Becoming a parent is a big step, and it’s one that should be taken seriously. Between making the decision to stop taking contraception, having the conversation with your partner about how many children you want, and preparing yourself for the years ahead of you can be both daunting and exciting. And with genetic testing to help guide you through the process, you can set your anxiety aside and focus on the future with excitement and optimism!


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