Birth is usually a joyous time, but unfortunately, each year in the United States, 100,000 to 150,000 babies are born with genetic birth defects.  This number accounts for approximately 20% of the infant death rate.  With numbers like this, many families like to receive genetic birth defects counseling from their physician before or after they conceive.  Counseling can help them better understand the risks associated with genetic birth defects and determine what their chances are of having a child with a defect.

There are many different types of genetic birth defects.  One deadly birth defect is Anencephaly.  Anencephaly is when the brain, spinal cord are not fully developed due to the neural tube at the cephalic end not closing properly.  Although scientists don’t really understand what causes this birth defect, it is believed that taking folic acid during the pregnancy can help prevent it or at least lower the chances.  Some studies have shown that folic acid intake can lower the chances of Anencephaly from 1 in 1,000 to 1 in 10,000.

Down Syndrome is another genetic many women, especially older mothers, worry about.  Down Syndrome occurs when the cell division is faulty and the baby has a 21st chromosome.  As women age, the chances of having a baby with Down Syndrome increases.  The disorder is characterized by the child having differences in body structure as well as impairment in both cognitive ability and physical growth.

Tay-Sachs is a genetic birth defect that causes severe brain damage, blindness, an enlarged head, deafness, and eventually death.  It occurs in child who have too little of the enzyme hexosaminidase.  Without this enzyme, the nerve cells store too much ganglioside.  This causes nerve cells to become swollen and die, resulting in brain damage.