Some severe congenital disorders are neural tube defects, heart defects, and Down syndrome. A congenital heart disorder refers to an abnormality in the structure of the heart since birth. It is one of the most common types of congenital disorders. This congenital condition mainly involves the defect in veins, arteries, and walls of the heart. This defect can eventually affect the blood flow from the heart. Sometimes the blood flow gets slowed down, whereas sometimes, the path of blood flow gets disturbed. Rapid breathing, cyanosis, fatigue, and poor blood circulation are common symptoms of congenital heart disease.
The other severe congenital disorder is Down syndrome. Down syndrome is a genetic defect present in a human before birth. It is caused due to the presence of extra genetic material present in chromosome number 21. This particular disorder can be very severe as it ultimately retards the mental and physical growth of the child. A child born with Down syndrome has heart or kidney malformations, poor muscle tone, and abnormal dermal ridges.
Neural tube defects are some other severe conditions of congenital disorders. Spina bifida and anencephaly are some common neural tube defects. It can severely affect humans as it can cause paralysis, uncontrollable bowel movement, blindness, and deafness.
Inheritance of Congenital disorders
The inheritance of congenital disorders is dependent. Congenital disorders are disorders present since birth. However, their causes can be different. In many conditions, the congenital disorder is due to alteration in genetic mapping or certain defects in genetic combination. In this case, the disorder is a genetic disorder, and the parents are not responsible for such a disorder. However, in certain conditions, the congenital disease is passed on to the progeny by parents. Such congenital disorders are purely inherited disorders.
It is not entirely accurate that inheritance plays a role in congenital disease. Since in certain disorders, there is no involvement of parent genes or parent diseases. Sometimes, due to certain delivery complications or external environmental factors, the child gets the congenital disease.
Prevention, Diagnosis, And Treatment of Congenital Disorders
Congenital disorders can be very severe and life-threatening for humans, so there are certain ways that can be helpful in the prevention of congenital diseases. During the crucial phase of pregnancy, it is advised to keep the mother far away from toxins and hazardous substances. Alcohol, tobacco, and smoking are a clear no for a pregnant woman. Moreover, doctors also recommend a proper diet full of minerals, vitamins, and proteins for the mother in order to lower the risk of diseases. Testing and vaccination of certain viruses like rubella are also necessary to prevent the risk of congenital diseases.
Congenital diseases can be detected by various means. During early pregnancy, blood tests are enough to indicate signs of any serious problem. Along with blood tests, other techniques like Pre-conception screening, ultrasounds, urine tests, chorionic villus sampling, and amniocentesis can be used to diagnose chromosomal abnormalities. Neonatal screening can also be done to find blood metabolism disorders.
The treatment of congenital disorders is not fixed yet. There are several disorders whose treatments are not found yet. However, by doing some special techniques, the patient’s condition with a congenital disorder can be improved. There are techniques like gene therapy, enzyme replacement therapy, and prenatal treatment. These techniques help in the betterment of the patient.
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