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What’s a birth defect?

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Congenital diseases can be caused by genetics, morphogenesis, and toxin exposure during pregnancy. Treatment options vary and parents should not blame themselves. Genetic testing and prenatal care are recommended to catch any problems early.

A congenital disease is a medical condition present at birth. The severity of a congenital disorder varies, depending on its nature; for example, in some cases, the condition may not manifest itself until much later in life, if at all, and other times, the disorder is life-incompatible. A variety of things can cause these conditions, with some specific activities on the mother’s part greatly increasing the risk of a congenital disorder.

Many congenital conditions are genetic in nature. Genetic disorders can be passed on from one or both parents, or they can be caused by errors in the duplication of chromosomes that cause spontaneous genetic mutations. The risk of genetic problems is obviously increased in families with a history of this disorder, and is also elevated in older parents, as they are more likely to pass on imperfectly duplicated chromosomes. A congenital disorder can also be caused by problems with morphogenesis, which means that the problem arises during the development of the fetus. Toxin exposure during pregnancy is a major risk factor for fetal developmental errors.

When a congenital disorder causes an obvious physical problem, it may be known as an abnormality or a malformation. Anomalies are abnormal, but not necessarily harmful; growing a sixth finger, for example, is an anomaly. Malformations, on the other hand, can cause problems. You may also hear birth defects referred to as birth defects.

Genetic disorders can appear at birth, such as conditions characterized by an abnormal number of chromosomes. In other cases, genetic disorders can manifest themselves later in life; sometimes people live totally unaware of such disorders until they get routinely tested for something else. It is also possible for a birth defect to take the form of a metabolic condition or disease.

Treatment options for congenital disorders vary. Abnormalities and malformations can sometimes be corrected with surgery, while diseases and some genetic conditions are sometimes manageable with medication. Some patients may require lifelong care for congenital conditions, some of which are associated with very low life expectancy.

Parents shouldn’t necessarily blame themselves for congenital disorders, because many are spontaneous and unpredictable. If a family has a history of genetic problems, it may be advisable to have genetic testing to look for harmful genes. Pregnant mothers should also avoid obvious risk factors such as chemical exposure and smoking during pregnancy, while following a nutritious diet to promote healthy fetal development. Regular prenatal care is also highly recommended for expecting parents, to ensure signs of any problems with the pregnancy are caught as quickly as possible.

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