Electronic Health Reporter

A genetic disorder is a medical condition that is brought on by changes in one’s genes or chromosomes. There are between 20,000 and 25,000 genes in every human body, and these genes determine which traits will be passed down to succeeding generations. If a genetic mutation occurs in one of those genes, it can alter a person’s appearance, personality, and intellectual or physical development.

Oftentimes, inherited diseases result from a change in DNA that is handed down from one generation to the next. It is possible for parents to unknowingly carry a chromosomal or gene mutation without experiencing any symptoms.

Some common ailments – like sickle cell anemia, Down Syndrome, and cystic fibrosis – may occasionally be traced back to a mutation in a single gene. If you’re worried about your unborn child’s risks because of your family history, it’s important to educate yourself as much as possible so that you can make informed decisions.

Increased Risk Factors for Genetic Anomalies

Causes of congenital abnormalities (CAs) range from environmental factors to genetics. Depending on when an individual is exposed to a potentially harmful environment in a pregnancy, the fetus may be at risk for miscarriage or birth abnormalities.

The most damage can be done by diseases and medications when exposed between two and ten weeks after conception. However, genealogical ties are only one example of how members of the same family tend to share characteristics with their surroundings and way of life. Consider them all together, and you may be able to see signs of a familial ailment. 

If you have a well-maintained record of familial disease history, doctors can assess an individual’s, their family’s, and future generations’ susceptibility to disease by looking for family history clues. Variables such as lack of prenatal care, overwork during pregnancy, poor dietary habits, and alcohol usage might increase the likelihood that your child will be born with a genetic disorder.

Kinds Of Genetic Disorders

Some of the more common types of genetic disorders include chromosomal disorders and hereditary genetic disorders:

Chromosomal Disorders 

Many hereditary conditions and characteristics may be traced back to mutations and other types of chromosomal abnormalities. Abnormalities of the chromosomes might be numerical or structural, and a person with a numerical aberration either lacks one of their usual pairs of chromosomes or has an extra chromosome. 

In contrast, if there’s a structural defect in the chromosome’s structure, it is typically arranged abnormally. Syndromes caused by chromosomal abnormalities can profoundly affect a person’s quality of life. These chromosome abnormalities include Klinefelter, Down syndrome, Edwards’ syndrome, and Turner syndrome.

Hereditary Disorders

Inherited diseases are those that can be traced back to one or both of the parents. Inheritance of a congenital disability, impairment, neonatal screening problem or genetic disease has been linked to an increased risk of having a child with Down syndrome. Some of these common disorders include:

• Cystic Fibrosis
• Thalassemia
• Tay-Sachs Disease
• Sickle-Cell Anemia

If you or a member of your family has a history of a particular disease, then you may be able to take steps to reduce your vulnerability by keeping tabs on this information. Undergoing prenatal genetic screenings, can also help provide more information about these conditions.

Environment Related Disorders 

Environmental variables have been linked to adverse pregnancy outcomes such as congenital malformations, higher risk of miscarriages, and other maternal morbidities. Various non-genetic environmental variables (such as chemical exposure) can trigger maternal morbidity through various other means.

Fetal development disturbances, congenital abnormalities, stillbirths, and miscarriages are only some adverse outcomes resulting from exposure to environmental risks during pregnancy. Environmental-related risks are avoidable, and because of the unique needs of both mother and child during pregnancy, extra care must be taken to avoid complications.

Keeping Your Baby Safe

Being preventive and knowing about the potential anomalies that are revealed through prenatal genetic screening can allow you to make better decisions for you and your child.

Thanks to many advances in the detection and treatment of genetic illnesses, more women with these conditions can detect these disorders and act accordingly. 

If you have any concerns about genetic defects, then it’s best to stay in touch with your doctor and monitor your child’s health to check for any anomalies. Your doctor can assist you and your family in making wise choices for the well-being of your newborn and allow you peace of mind throughout your pregnancy and in the years ahead of you.