Becoming a mother can be one of the most significant – and the most rewarding – experiences in a woman’s life. However, pregnancy can also be a time of great uncertainty for parents, especially when it comes to the health of an unborn baby. Whether a mother has a family history of genetic disorders or if she’s of advanced maternal age, these are all valid reasons to be cautious and take preventative measures to ensure a happy and healthy pregnancy.
If you’re about to start a family, or you’re still in the planning stage of adding to your current family, there are a few ways you can put your mind at ease during this joyful and uncertain time. By being proactive about your wellbeing, and undergoing routine genetic testing, you can help ensure the best possible outcome for your baby.
What Causes Genetic Disorders?
When it comes to genetic disorders, there is rarely one singular thing that can cause them to happen in your child. Nevertheless, in the most basic of terms, a genetic disorder can arise when a change occurs on a particular strand of DNA. These changes can be due to:
- A mutation on one gene
- Several mutations on multiple genes
- External or other environmental factors
- Concurrent mutations and environmental factors
- Direct damage to the chromosome itself
It’s important to note that there are currently over 6,000 known genetic disorders at this time, with up to 600 of them being designated as treatable. While they may initially seem quite rare, genetic disorders are actually significantly more common than you might realize. For instance, research indicates that genetic disorders can occur in anywhere between 3 to 5 percent of live births, and nearly 1 in 150 children will be born with a chromosomal disorder.
That said, there are a number of variables that can influence the likelihood of one of these conditions manifesting in your child. Some of them may possibly be under your control, whereas others may arise spontaneously, with no known trigger to cause it. In some cases, genetic disorders are heritable, which means that it could have been passed down by either one or both parents.
External factors that may give rise to a genetic disorder can include lifestyle concerns, such as maternal age, weight, or even the use of alcohol or tobacco products during pregnancy.
Common Types of Genetic Disorders
Down syndrome is a very common genetic disorder. Also known as Trisomy 21, this chromosomal condition isn’t necessarily lethal, but it can cause physical and mental impairment. Symptoms include cognitive delays, shorter stature, and changes in facial appearance. Other chromosomal disorders include Fragile X syndrome (which is associated with cognitive impairment), Turner syndrome (affecting biological females), and Klinefelter syndrome (which occurs on biological males).
Conversely, some genetic disorders are not chromosomal, but are instead exclusively genetic in nature and are passed down from the parents. One of these common genetic disorders is cystic fibrosis. An inherited genetic disorder, it can affect the patient’s lung function and lead to a shorter lifespan. Children can also develop thalassemia, which is a condition that is characterized by reduced hemoglobin production. In many cases, it can lead to anemia, as well as weakness and fatigue, and deformities in the facial bone structure.
Educating and Empowering Yourself
Even though many genetic disorders can’t be traced back to a singular action or catalyst from either parent, there are still a few things you can do to help mitigate the risks associated with them. Being mindful of your own risk factors is one of these things. By maintaining a healthy diet and fitness routine both before and during your pregnancy, you can help ensure your child gets adequate nutrition during gestation.
Another way you can help empower yourself is through genetic testing. Undergoing genetic testing during pregnancy can give you the resources to know more about your own unique risk factors. In turn, you’ll be able to take more proactive measures to help prevent these genetic disorders from occurring in your child. Speaking to a genetic counselor, and carefully analyzing the results of an NIPT (noninvasive prenatal testing) assay can answer many questions – even ones you may not realize that you had.
Realizing that you’re pregnant is going to come with a host of emotions. You may feel excitement, or perhaps you’ll feel anxiety or trepidation about the future ahead of you. Regardless of which emotions you feel, there are resources available to provide yourself and your child with the best possible start in life.