Looking To Start a Family? What You Need To Know About Genetic Disorders

When the topic of pregnancy and starting a family comes up in a conversation, it's normal to have a moment of hesitation and even a bit of uncertainty about the subject. After all, this isn't a decision that should be made lightly, and it understandably requires a considerable amount of contemplation before proceeding. Having children is a major responsibility, and they are entirely dependent upon their parents for all of their needs for the first few years of their life.

While nobody wants to think about their child having a genetic disorder or any other serious health concerns when born, this is nonetheless a very real consideration. The fact is, genetic defects are also much more common than you may initially realize. Current research has indicated that as high as one in five people may have a genetic mutation that can cause disease, even if they are entirely asymptomatic. This means that the likelihood of one of these conditions being passed on to your child is much higher than you may have initially realized. 

Suppose you have been thinking about starting a family shortly. In that case, you must take the time to fully educate yourself about the possible risks of a genetic disorder manifesting in your offspring. Even if you have no family history of any of these conditions, it doesn't mean that a genetic anomaly isn't lying dormant in your DNA. And by thoroughly researching this possibility and undergoing the proper testing and counseling beforehand, you can confidently enter this new stage of your life without fearing health concerns looming over your head. 

What Causes Genetic Disorders? 

In the most basic terms, a genetic disorder is a condition caused by a change in one or more of your genes. As the foundation of who you are as a person, your genes can define everything about you, ranging from your eye color to your height to even your personality. When a mutation occurs in one of these genes, this can have far-reaching repercussions on the body. Sometimes they may be fairly mild in their manifestation, and in other instances, they can be quite severe, leading to impaired quality of life. 

In addition, a few other things can cause a genetic disorder in an unborn child. These include:

• A history of genetic disorders in your family
• The birth of a child with an existing genetic disorder
• One or more parents with a current chromosomal disorder
• Older parents (over the age of 35 for the mother and 40 for the father)
• A history of miscarriages or stillbirth

While these factors can increase the risk of a genetic disorder, other variables can also affect the pregnancy. For instance, if the mother has a history of tobacco or alcohol usage, this can lead to birth defects in the fetus. Environmental toxins may also cause complications. In addition to scheduling regular prenatal appointments and undergoing prenatal genetic screening to identify any risk variables, the mother must prioritize her health during pregnancy. This is not only for her wellness but also for the sake of her unborn child.

The More Common Genetic Disorders

Three main types of genetic disorders can arise during pregnancy. These include single-gene disorders, chromosomal disorders, and complex disorders. As the name suggests, a single-gene disorder occurs when a mutation affects just one gene. A chromosomal disorder, conversely, occurs when either all or some of an affected chromosome is modified. Like a single-gene disorder, a complex (or "multifactorial") disorder arises when the mutation occurs on two or more genes. These can be due to either genetic mutations or even diet, lifestyle, or environmental influences. 

Some of the more common types of genetic disorders include congenital deafness (hearing loss that occurs at birth), cystic fibrosis (a respiratory disorder that causes excessive mucus formation in the lungs), and hemochromatosis (having too-high levels of iron in the blood). Frequently occurring chromosomal disorders include Trisomy 21 (also known as Down syndrome) and Turner syndrome (caused by either a partially or entirely missing X chromosome). Finally, some more prevalent complex disorders include diabetes, late-onset Alzheimer's, and coronary artery disease. 

The Benefits of Genetic Counseling

When the time comes to start planning for your future with a child, one of your first steps should be to talk to a genetic counselor. Genetic counseling can be an incredible way to empower yourself with the resources to make more informed decisions about your upcoming family. Your genetic counselor can work alongside you to help answer any questions that you may have about pregnancy, any possible health risks that may harm yourself or your little one, and what options you have if something should arise during your screening tests.

The benefits of consulting with a genetic counselor are multifold, such as:

• A better understanding of possible risks. Undergoing prenatal screening can be a very prudent decision for you and your partner, but it can also be anxiety-inducing. Your genetic counselor can help you not only understand the potential risks that your unborn baby may face but they can also help you interpret them in a way that is easily accessible to you.
• Access to educational tests. Depending on where you are in your pregnancy, one type of prenatal screening may be a better option over another. Your genetic counselor can help you decide which type of test is best for you and let you know if a more invasive test is ideal for you. In addition, if any tests point to the possibility of genetic defects, they can help you decide which subsequent tests may be best for you.
• More confidence about the future. If you have a family history of genetic disorders, your chances of passing them on to your child can increase compared to the general population. Prenatal screenings can help identify these variables, allowing you to experience peace of mind when you discover that your child does not carry any mutations in their genes.
• Improved decision-making. Learning that your child may be born with a genetic disorder can be alarming and come with its share of complicated emotions. Your genetic counselor can help you understand the results of the tests. They can also help offer guidance as to your options should you find that your child may be born with health complications. 

Having a child can be an advantageous and enriching experience overall. The opportunity to raise someone who loves you unconditionally can be highly fulfilling, strengthening the bond between yourself and your significant other. Ultimately, however, the choice to undergo prenatal screening is rather personal. No matter what you decide, though, it's a decision that you should speak about with your partner, your healthcare provider, and your genetic counselor. And in doing so, you can rest assured that you're doing everything possible to give your little one the best possible start in life.