Genetic birth defects can be hereditary or non-hereditary, caused by errors in genes or chromosomes. Examples include Tay-Sachs disease, sickle cell anemia, and Down syndrome. Environmental factors can also affect gene expression. Access to genetic counseling can help detect hereditary defects early.
Understanding genetic birth defects first means understanding the term genetics. There may be differences in how this word is used. Sometimes genetic means due to the inheritance of one or more genes that result in the expression of one or more symptoms or changes in average body function. Another way this term is used is to express errors in the way chromosomes work or genes that do not have an inheritance bias; such errors could arise from the environment, disease, age or unknown factors, resulting in a form of non-hereditary congenital genetic defects.
Hereditary birth defects exist in many forms and can be passed on to children in a variety of ways. Parents may need to carry a gene for a defect in order for it to be genetically expressed. In these cases, the defects only occur if the child inherits a recessive gene from each parent, which is not always the case. In other cases, whenever a single gene is inherited, the birth defect occurs, which is called autosomal dominant. Defect does not always mean malformation of the body, and some people show no signs of genetic birth defects when they are born. Instead, the flaws show up later.
There are many examples of genetic birth defects that can be very serious. These include Tay-Sachs disease, which causes gradual deterioration and has an exceptionally high mortality rate. This can be said to be related to the gene because people either carry or do not carry this gene, and when two parents are carriers they have a one in four risk of having a child with this disease. It is a recessive disease, but people who do not get the disease can become carriers of the gene and should undergo genetic testing before having children. Other inherited diseases include sickle cell anemia, cystic fibrosis, muscular dystrophy, and Marfan syndrome; there are many other examples.
Mistakes in the genes can cause the other type of genetic birth defects. Due to the environment or some accident of nature, one or more genes may not work as they should. This is the case with heart defects, although there are some rare heart defect conditions such as heterotaxy that are inherited. Most occur for unknown reasons, but these reasons clearly imply that genes fail to order the body’s building work correctly.
It should also be noted that this second type of defect could be hereditary. Just because an inheritance pattern hasn’t been established, doesn’t mean it isn’t there. It just means that medical researchers haven’t discovered it.
Another defect that is quite common and can be hereditary or sometimes inherited is cleft palate. Sometimes doctors aren’t necessarily sure what’s causing the problem. Other conditions could result from environmental factors that change the way genes are expressed.
For example, Down syndrome can be inherited and is more common in families with children with Down syndrome. The risk of having a baby with the condition also increases with age, as a woman’s eggs or ova age. Down syndrome increases significantly for women over the age of 35, regardless of whether people have a family history.
Lack of certain things like folic acid supplements before and during pregnancy can create neural tube defects in the spine, and there’s growing evidence that the genes that build the heart can falter, causing heart defects. Diseases, most illegal drugs and alcohol can also cause incorrect gene expression which leads to a variety of non-hereditary defects.
Many people who have a child with a birth defect do not expect it and have no family history of the defect. In a way, this makes it a little easier to detect hereditary or genetic birth defects early, given access to genetic counseling. Knowing family history is a good way to know if it would be advisable to work with a genetic counselor before trying to conceive. However, even with a clear family history, the inability of genes to function properly sometimes means that the risk is always present, although thankfully most defects are rare.
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