A pregnancy should be a time of excitement and joy as parents prepare for a new life — but after the good news is shared, a natural progression of events occurs where the joy can easily transform into worry and stress.
First-time parents likely suffer from this at a more dramatic rate because of the stressors that accompany such a life-altering time. One of the most significant worries would be whether the child is healthy.
Down Syndrome
Perhaps one of the most well-known genetic disorders, Down Syndrome represents a cascade of childhood problems rooted in DNA damage that occurs in the early stages of the pregnancy. This is a common condition and epidemiological studies estimate that approximately 1 out of every 1,000 to 1,500 births will result in a baby with Down Syndrome worldwide.
The rate of Down Syndrome is growing faster in more developed countries such as the United States, Canada, and countries around Western Europe where rates could be as high as 1 out of every 600 births.
One of the main risk factors associated with this genetic condition is related to the age of the parents. Numerous studies indicate that as the age of the mother increases, there is a higher probability that the child will be born with Down Syndrome. Although approximately 80 percent of mothers under the age of 35 will account for the cases of Down Syndrome, the number is disproportionally higher in women over the age of 35 and becomes very significant by the time a mother has reached the age of 40.
Some studies estimate that up to 25 percent of pregnancies after the age of 40 could result in babies with Down Syndrome. Newer studies have also linked the age of the father as a contributing factor as well, but the overall influence of paternal age is nowhere near as important as the age of the mother.
A child with Down Syndrome will have a combination of childhood problems such as cognitive disabilities, anatomical defects, and developmental problems. The best way to avoid this type of condition would be to have children at a younger age. This can be easier said than done, as many women are forced into focusing on careers prior to motherhood.
In this situation, it is best to have frequent screening during the prenatal period. The older a mother is, however, the more likely the DNA in her eggs is damaged, so it is a risk that just keeps growing as she ages.
Cystic Fibrosis
Another common genetic condition goes by the name of cystic fibrosis. This, too, is linked with damage to the DNA sequences in early fetal development and can lead to a number of childhood problems for these children.
In this disorder, children will seem fine for the first few months of their life but will begin to have respiratory problems around the age of 6 months. They will frequently become sick with respiratory tract infections and are likely to have absorption problems in their intestines. As a result, children with cystic fibrosis will grow at a slower rate compared to their peers and be more prone to infections.
As a child ages, he or she will likely also need to take prophylactic antibiotics to prevent infections. There is a chance in males to also suffer from infertility because of the nature of this condition. Thankfully, most countries worldwide screen for this genetic disorder right after the child is born. Catching this disorder early on can make living with cystic fibrosis more manageable and help the physicians and family plan out therapies.
Whereas Down Syndrome is a disease more likely to be seen when parents, especially the mother, are at an advanced age, cystic fibrosis runs in families, and there will be a family history of the disease. Cystic fibrosis is inherited in an autosomal recessive pattern, meaning that in order to have signs of the infection, both parents will carry this disease.
VACTERL Association
The last type of childhood disorder is one that encompasses another common type of birth anomaly. These are conditions where genetics do play a role in the final manifestation of the disease but genetics are just one of the many things that must go wrong in order to see these types of conditions. These disorders are referred to as associations. This means that multiple defects will occur at the same time. One of the most common types of these associations is referred as the “VACTERL” Association.
This name is a mnemonic representative of the defects that a child would be born with.
- “V” represents vertebral defects. This can include spinal problems and children may easily break bones within their spinal column as a result.
- “A” signifies anal atresia. This is a fancy medical term meaning that a baby will be born without an anus.
- “C” would be cardiac defects. These children will likely need to have multiple heart surgeries in order to improve their quality of life.
- “T and E” represent trachea and esophagus deformation. They could be combined together in some cases so parents are unable to feed their children due to the risk of food entering the lungs instead of the stomach.
- “R” would be renal changes. Children will likely have kidney problems.
- And finally, “L” would be limb defects. These children may be missing fingers or toes or have asymmetric limb lengths making it hard to walk.
Even if this may sound like a hopeless situation, advances in medicine have made it possible to give these children a good quality of life. Multiple surgeries will be necessary and it will be a trying time for parents, but the child will be able to have a semblance of normal life.
Thankfully, this is not a very common condition on its own but associations can be linked with other genetic problems in parents and genetic counseling should be utilized in such a circumstance.
Just because you may have a history of genetic diseases in your own family tree, remember that genetics do not guarantee that the next generation will suffer from the same fate and even if they did, medicine is constantly improving to help improve the quality of life for these children.
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