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Types and Causes of Birth Defects

According to the March of Dimes, about 1 out of every 33 babies born in the U.S. each year will be delivered with a birth defect. A birth defect is a physical or mental disability caused by an abnormality present when the child is born. Birth defects can be caused by genetic factors, environmental factors or a combination of both. Unfortunately, in about 70 percent of the cases, the cause of the birth defect will remain unknown.

The most common birth defects in the U.S. are cleft lip or palate – affecting about 6,800 babies each year – and Down’s syndrome, which affects about 5,500 babies each year. Other common birth defects include a heart defect known as “transposition of the great arteries,” other heart defects (which remain the primary cause of infant deaths related to birth defects) and spina bifida.

Cleft lip or palate is a birth defect in which the lip and/or the roof of the mouth fail to develop properly, leaving an opening into the nasal passages. This type of birth defect is known as a multi-factorial birth defect, meaning that it can be caused by a combination of things, including genetic factors or predispositions and environmental factors. Other multi-factorial birth defects include neural tube defects, such as spina bifidia.

Down’s syndrome, on the other hand, is a chromosomal birth defect – the baby is born with three chromosome 21s, instead of only two. Mental retardation is common in children with Down’s syndrome, as are heart defects and specific facial features. Other chromosomal birth defects, such as multiple copies of other chromosomes, are often incompatible with life and the children die during pregnancy or shortly after being born. However, there are also birth defects that are caused by extra or missing sex chromosomes, including Turner syndrome and Klinefelter syndrome.

In addition, there are several birth defects that are caused by inheriting a single faulty gene from a parent. These include achondroplasia, which is a type of dwarfism, and Marfan syndrome, a disease of the connective disease. Other birth defects are caused when both parents pass along a recessive gene. Just a few of these include cystic fibrosis, a serious disorder which affects the lungs and other organs, and the fatal nervous system disorder known as Tay-Sachs disease. A few diseases are also passed only from mothers to their sons, including hemophilia – a disorder that affects blood clotting.

Several substances in the environment are also known to cause birth defects, including alcohol, infections, drugs and medications. Alcohol is responsible for a birth defect known as fetal alcohol syndrome (FAS). While even modern or light drinking can harm a baby, FAS is more common among women who drink heavily while pregnant. A particular pattern of physical and mental defects are seen in children that are born with FAS.

Women who contract certain infections while pregnant can give birth to babies with birth defects. These infections include the measles, chicken pox and cytomegalovirus. Sexually transmitted diseases, such as syphilis, can also cause birth defects. In addition, children whose mothers have an active genital herpes outbreak at the time of delivery are usually delivered via Caesarean section to prevent transmitting that virus.

Finally, it’s important for women to know that not only can illegal drugs harm their babies, but prescription drugs can as well. For example, the prescription drug Accutane can cause birth defects. If you have any concerns about the medications you’re on, be sure to speak with your health care provider before you begin trying to conceive.

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