Genetic Birth Defects

Every expectant mother would like to deliver a healthy baby. It is her cherished desire that her baby should lead a happy, normal life. She takes precautions during delivery to ensure that her child is not born with defects, but sometimes the situation may not go as you desire. Children are born with problems, known as birth defects, and have to deal with them throughout their lives.

Pregnancy can be complicated and if it is so, delivery maybe difficult and birth defects can occur.  Some birth defects are genetic and occur at the time when the fetus is being formed. Also, if the expectant mother is not careful, such as by consuming alcohol or suffering from some external injury, then birth defects can occur.

Genetics play an important role in the formation of the child during the initial stages.. How the child looks and whether he or she will be healthy depends upon genetic factors. The expectant mother can do her best to take care of herself and hope that she has a normal delivery, but abnormalities may still occur.

What are Genetic Birth Defects?
Any abnormality of structure, function, or metabolism present at birth will lead to physical or mental disabilities or death. Such disabilities are known as birth defects.

They are responsible for the growth and development of the physical and biochemical systems. The child inherits its features through genes, and it can acquire diseases through them as well. Chromosomes inside our cells play an important role in the physical and mental formation of a child.

Single Gene Defects- If a single gene is faulty, the child develops birth defects. One parent may have passed on the gene. This is called “dominant inheritance.”  Some examples are Achondroplasia which is a type of dwarfism, and Marfan Syndrome, which is a connective tissue disease.

An abnormality in one particular gene which the parents pass on to the child, although they do not suffer from the disease is known as “recessive inheritance.” Here conditions, such as Tay-Sachs disease, which is a fatal nervous system disorder, and Cystic Fibrosis, a serious disorder of the lungs and other organs, are good examples.

In the case of the “X-linked” inheritance, the sons can inherit a genetic disease from the mother if she passes on that particular gene although there may not be any effect on her health. One such disease is Hemophilia, a blood clotting disorder.

Chromosomal abnormalities occur when an egg or sperm cell is developing. This can result in the baby being born with a deficiency in chromosomes, either too few or too many. Down syndrome occurs when the baby is born with an extra 21st chromosome. The child suffers from mental retardation, heart defects, and many other problems. Missing or having an extra sex chromosome (X or Y) can affect sexual development, cause growth abnormalities, and behavioral and learning problems.

Genes play an important role in the creation of a child. A child will not be born with defects if his genetic composition during pregnancy remains normal. Any defect during that time due to genes or chromosomes can mean that the child has physical deformities or is mentally impaired.

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