Birth Defects

 
Birth defects are disorders that are present at birth, i. e. they are congenital defects. The variety of defects can range from mild cosmetic irregularities to major developmental and biochemical disorders. The following table highlights the variety of factors that can cause birth defects. Keep in mind however, that 65-75% of birth defects occur from an unknown cause or a combination of environmental and genetic factors.

Cause of Birth Defect	Percent Occurrence
Genetic/Hereditary	20% - 25%
Maternal Disease (diabetes, heart disease, alcoholism)	4%
Infections passed from mother to baby	3% - 5%
Drugs and medications taken by mother	1%

Major birth defects include neural tube defects such as spina bifida and hydrocephalus, genetic diseases such as Down Syndrome, heart and gastrointestinal defects, cleft lip and palate, and abnormalities of the urinary tract and external genitalia.

There are improved methods for early detection through prenatal screening that can identify fetal abnormalities such as Down Syndrome, open neural tube defects and other malformations. Consequently, a therapeutic abortion can be carried out, which is a highly controversial issue. As a preventative measure, all pregnant women should take adequate amounts of folic acid supplements to prevent open neural tube defects.

Operations before and after birth can be done to correct certain abnormalities such as spina bifida. However, they cannot correct genetic abnormalities like Down Syndrome. Another restrictive aspect of corrective surgery involves the lack of sufficient skin donations for transplantation to repair defects.

There is an intense psychological impact on a family faced with raising a baby with birth defects. The consecutive stages for most families involve shock, disbelief or denial, sadness, anger and anxiety, equilibrium and then reorganization. Families should remember to focus on the normal aspects of their child, as well as the defects and share prolonged contact with their new child. Family togetherness is key and can be brought about by discussing issues and feelings as soon as they come up.

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