One of the most widespread genetic disorders today is Cystic Fibrosis, caused when an important protein is absent from the carrier’s body, leaving them to suffer from respiratory, digestive and reproductive issues. Huntington’s disease almost exclusively affects adults from the age of thirty, limiting the ability of their brains to function because it deteriorates their brain cells. One in every thousand newborn babies is born with Down syndrome, a disability that affects them both physically and mentally for the entirety of their lives.

These debilitating diseases, all with different sets of symptoms and different categories of victims, have two major factors in common; all are born of harmful genetic mutations, and all are incurable.

We live in a world of unprecedented technological advances, the progress of the medical sciences in the past decade alone has been staggering. Doctors today can tell with great accuracy both the eye coloring and gender of an unborn child before its fingernails have even begun forming. Even more astonishing, we are now at the point where we can perform complex surgery on the heart of that same child prenatally. Genetic diseases plague thousands, and with no treatments being successful in eliminating these diseases, they will continue to do so.

But we have developed methods of screening potential parents and ascertaining whether any future children are at risk of inheriting harmful pairs of genes.

Importance of Genetic Screening

The decision for doctors to offer genetic screening to all patients is one that is still relatively new. Previously these procedures were offered only to those considered as high-risk candidates, and people asking for these added tests would have likely been considered overly paranoid. Why then would parents need to bother with the hassle of genetic screening before deciding to have a baby if both parents are perfectly healthy; and have no family history of genetic mutations that could result in an unhealthy baby?

Genetics is a complicated branch of science, and there are many factors at work that determine which genes eventually make their way from parent to child. Most mutated genes that are passed down from parent to child are recessive; this means that they will not be expressed unless they are present in both parents genetic makeup, and even then, the child may be perfectly healthy. However, it must be understood that parents possessing high-risk genes will not necessarily pass these on to their children; there are many environmental factors involved. Previous generations may have lived in climates that suppressed the expression of dangerous genes. Something as simple as a change in humidity could be all the difference needed for a mutated gene to become crippling.

People Fear Genetic Testing

Some might not want to be screened specifically because they fear the tests proving positive will result in either themselves or their partners reconsidering whether to conceive or not. Having their doctor tell them that they will never have the healthy child they desire is something no aspiring parent wants to hear. They don’t want to consider the possibility, and so ignore it, hoping for it to go away. This approach is very much like closing one’s eyes to a storm. Even if they do not intend to move out of its way, they still need to be prepared for when it hits.

Importance of Genetic Testing

Genetic testing offers them the benefit of that chance to prepare should they choose to have a baby despite positive results. There are procedures available that can greatly reduce the risks of mutated or dangerous genes on to a child. PGD (Preimplantation Genetic Diagnosis) is one such treatment and involves analysis of embryos to determine their health before implantation. One can only consider such procedures once they are aware of the need to do so.

If undergoing such procedures proves impossible, knowing the possibility exists offers potential parents the chance to seek counseling and make other preparations. Seeking counseling, researching the needs a future child might require, and preparing any older siblings for the arrival of the baby brother or sister with whom they may need to be extra gentle. Caring for a disabled or infirm child, particularly if the disability is cognitive can take a heavy toll, even on families that are prepared, so it will be even harder for those who are not.

While there are hurdles to genetic testing before pregnancy, including costs and availability, these barriers are slowly disappearing. Today there are at-home kits, and newer, less invasive tests only make things easier. Most tests require only a small sample of either blood or saliva, and the few days it takes the results to get back from the lab.

Thanks to these simple tests, the number of people born with some of the worst genetic disorders has been drastically reduced.

Having a baby, from conception right up until birth is a very stressful time and the stress doesn’t end there. With so many things to worry about, it’s no wonder many couples would rather not have to start worrying about doctor’s appointments and lab tests before they’ve even attempted to conceive.

Conclusion

It’s important to remember though, that even a positive test on a genetic mutation for both partners does not carry a one-hundred percent certainty that any child they conceive together will inherit the mutation. Medical science is evolving and growing more advanced each day. Many treatments are available where there has been none before, and scientists are developing more every year.

More than just making them aware of the odds and helping them make decisions in their future family planning, genetic testing can also help close relatives by revealing genetic mutations they might not have been aware of before.

There are many benefits to genetic testing, before and even during pregnancy not just for hopeful parents, but also their families, both present and future.

References:

Johnson, T. (2018, February 14). Should You Screen Your Genes Before You Conceive? Retrieved from www.webmd.com/baby/genetic-tests-before-pregnancy

Prevent genetic disorders: Preimplantation Genetic Diagnosis. (2017). Retrieved from www.igenomix.com/tests/prevent-genetic-diseases-pgd

Lockhart, E. (2013, June 6). The Top 10 Most Common Genetic Disorders. Retrieved from www.activebeat.com/your-health/children/the-10-most-common-genetic-disorders

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