When it comes to the health of children, prevention is always better than cure. This is why expectant mothers need to live healthily during their pregnancy. Eating nutrient-rich foods and avoiding alcohol, cigarette smoking, and recreational drug use can all help to give a child the best possible start in life.
However, parents need to understand that not all illnesses can be avoided, even by being healthy during pregnancy. Therefore, it is helpful to know which congenital diseases cannot be prevented.
By being aware of these conditions, parents can take appropriate measures for early detection, management, and treatment. What are the most common congenital diseases that cannot be prevented?
Down syndrome is a genetic disorder created by having an extra copy of chromosome 21. This results in both physical and intellectual impairments. Down syndrome cannot be prevented, and the extra chromosome 21 is a result of a random error during early embryonic development. It is not influenced by any lifestyle or environmental factors.
Newborns with Down syndrome commonly exhibit specific physical characteristics, including almond-shaped eyes, a flattened facial appearance, and a petite nose. Additionally, they might display reduced muscle tone, a singular crease across the palm, and a tongue that protrudes.
However, it’s crucial to recognize that each person with Down syndrome is distinct, and not all of these features may be present.
Individuals with Down syndrome also commonly experience cognitive challenges, ranging from mild to moderate intellectual disabilities. They may take longer to reach developmental milestones, have difficulty with speech and language, and require additional support in their education.
People with Down syndrome are more likely to suffer from certain medical conditions. These may include congenital heart defects, respiratory issues, hearing and vision problems, thyroid conditions, and gastrointestinal problems.
Cystic fibrosis is a progressive genetic disorder that primarily affects the lungs and digestive system. It causes the production of thick and sticky mucus, leading to difficulty in breathing and digestive problems.
Unfortunately, cystic fibrosis cannot be prevented. It occurs when the cystic fibrosis transmembrane conductance regulator (CFTR) gene has a mutation. These mutations can be inherited from both parents who carry a defective CFTR gene. Screening tests can help identify carriers, but there is no way to prevent the passing of the gene from both parents to the child.
Spina bifida encompasses a range of neural tube defects that occur during early pregnancy. The severity of the condition varies, leading to different levels of impairment. The most common form of spina bifida is called myelomeningocele, where the spinal cord and its protective covering protrude through a gap in the vertebrae.
Other forms include meningocele, where the protective covering protrudes but not the spinal cord itself, and spina bifida occulta, which is a less severe form characterised by a small gap in the vertebrae without protrusion.
This condition can cause varying degrees of physical and intellectual disabilities. While certain factors, such as taking folic acid supplements during pregnancy, can reduce the risk of spina bifida, the condition itself cannot be prevented. It is a result of a combination of genetic and environmental factors, and the exact cause remains unknown.
Muscular dystrophy refers to a group of genetic disorders that can be identified by degeneration and progressive weakness of the muscles. Muscular dystrophy exists in various forms, each impacting different sets of muscles. Duchenne muscular dystrophy is the most common form and primarily affects boys.
Unfortunately, muscular dystrophy cannot be prevented. The majority of muscular dystrophy types stem from gene mutations that affect the production of essential proteins crucial for maintaining healthy muscle function. These mutations are typically inherited or occur spontaneously.