Are You At Higher Risk of Chromosomal Disorders During Pregnancy?
Pregnancy can be a time of great uncertainty, and it can be difficult to know what to expect, even if you have had children before in the past. Even if you carefully do all of the necessary research before you start down the path toward parenthood, there are still a wide number of variables that can come into play that might affect labor and delivery. From your age to your diet – and everything else in between – even the most seemingly-innocuous things can affect your pregnancy and your unborn child.
The risk of chromosomal disorders is one part of pregnancy that is often overlooked. However, taking the time to educate yourself about the risks of chromosomal defects can be incredibly empowering for yourself and your partner. And in doing so, you can help ensure the best possible life for yourself, as well as for your little one.
What Are Some Common Chromosomal Disorders?
While it may seem that chromosomal disorders are fairly rare, they’re actually much more common than you might initially realize. Current research statistics indicate that approximately 1 in 150 live births may be impacted by a chromosomal disorder, and these genetic defects are, surprisingly, the leading cause of infant and childhood mortality.
Typically, chromosomal disorders include duplications (where one or more copies of the segment of DNA are created), deletions (where the DNA itself is missing altogether), translocations (where a part of the chromosome breaks off and attaches to another), and aneuploidy (wherein there is one or more added or missing chromosome existing on the gene).
The more common variations of these existing chromosomal disorders include:
- Down syndrome. Also known as trisomy 21, Down syndrome is the most common chromosomal disorder and occurs once in every 800 live births. It affects both the brain and the body of the individual diagnosed with it, and characteristics include short, stocky stature, poor muscle tone, almond-shaped eyes, and cognitive impairment.
- Klinefelter syndrome. Occurring in up to one in 600 males, Klinefelter syndrome is also quite common. This disorder is denoted by an extra X chromosome, and individuals who have it may experience delayed motor development, weak musculature, breast development, taller-than-average height, and smaller reproductive organs.
- Fragile X syndrome. This chromosomal disorder has been linked to numerous mental health conditions, particularly autism spectrum disorder. Also known as Martin-Bell syndrome, Fragile X syndrome is caused by duplication of the FMR1 gene and is rarely regarded as lethal.
- Turner syndrome. Caused by either a full or partially missing X chromosome, Turner syndrome affects females only. Indications of this chromosomal disorder include shorter stature, amenorrhea (lack of menstrual periods), and impaired breast development. Typically, however, Turner syndrome does not cause cognitive delays, though emotional disorders can arise from it.
Identifying and Preventing Chromosomal Conditions
Since there are so many different types of chromosomal disorders out there, it’s important to note that the prognosis for each one can vary. Some may have more severe symptoms, whereas others may have very little bearing on the quality of life of the person diagnosed with it. Furthermore, the causes of these disorders can also vary. In some cases, they may be preventable or avoided through dietary or lifestyle changes.
Curiously enough, contrary to popular belief, these disorders are not necessarily heritable. That is, they’re not often passed on from one generation to another. Rather, they may arise due to errors occurring during the division of sex cells or other cells, or they can occur due to exposure to teratogens (substances that can cause birth defects, such as ). Advanced age is known comorbidity, particularly in mothers over the age of 35.
The decision to undergo prenatal testing to screen for any of these conditions is largely a personal one, and a genetic counselor can help advise you on if a NIPT test may benefit you. NIPT is safe, comprehensive, and surprisingly affordable. Testing can help shed light on the possibility of any of these conditions arising during pregnancy and allow you to make the right decisions for yourself and your family.
Pregnancy is incredibly exciting, uncertain, and complex. While the goal of every parent is to have a healthy and happy child, staying educated during pregnancy is essential. With proper resources and the support of a genetic counselor, you can have the peace of mind to give your unborn child the best possible start in life.
