Overview of Birth Defects

What is a birth defect?

A "birth defect" is a health problem or physical change, which is present in a baby at the time he or she is born. Birth defects may be very mild, where the baby looks and acts like any other baby, or birth defects may be very severe, where you can immediately tell there is a health problem present. Some of the severe birth defects can be life-threatening, where a baby may only live a few months, or may die at a young age (in their teens, for example).

Birth defects are also called "congenital anomalies" or "congenital abnormalities." The word "congenital" means "present at birth." The words "anomalies" and "abnormalities" mean that there is a problem present in a baby.

What causes birth defects to occur?

There are many reasons why birth defects happen. Most occur due to environmental and genetic factors, but often the cause is unknown.

Who is affected by birth defects?

Birth defects have been present in babies from all over the world, in families of all nationalities and backgrounds. Anytime a couple becomes pregnant, there is a chance that their baby will have a birth defect. Most babies are born healthy. In fact, 97 out of 100 babies are born healthy.

What are the genetic and environmental causes of birth defects?

When a baby is born with a birth defect, the first question usually asked by the parents is "how did this happen?" Sometimes, this question cannot be answered. This can be very upsetting for parents because it is normal to seek an answer as to why your baby has a health problem. For some birth defects, however, there is a known cause, which may have to do with either genetic or environmental factors, or a combination of the two. Here is some general information and terms related to the different causes of birth defects:

  • Inheritance. Inheritance is a word used to describe a trait given to you or "passed on" to you from one of your parents. Examples of inherited traits would be your eye color or blood type.

  • Chromosome abnormalities. Chromosomes are stick-like structures in the center of each cell (called the nucleus) that contain your genes.

  • Single gene defects. Genes are what determine your traits. Sometimes, a child can inherit not only those genes responsible for their normal traits such as the color of their eyes, but also disease causing genes that result in a birth defect.

  • Multifactorial inheritance. Multifactorial inheritance means that "many factors" (multifactorial) are involved in causing a birth defect. The factors are usually both genetic and environmental.

  • Teratogens. A teratogen is an agent, which can cause a birth defect. It is usually something in the environment that the mother may be exposed to during her pregnancy. It could be a prescribed medication, a street drug, alcohol use, or a disease that the mother has, which could increase the chance for the baby to be born with a birth defect.

Why are birth defects a concern?

Although some birth defects have a single abnormality, others have abnormalities in multiple body systems or organs. Birth defects may cause lifelong disability and illness, and with some, survival is not possible.

Some birth defects, such as mental retardation, are nontreatable disabilities. However, many physical birth defects can be treated with surgery. Repair is possible for many birth defects including cleft lip or palate, and certain heart defects.

How are birth defects diagnosed?

Many birth defects can be diagnosed before birth with special tests (prenatal diagnosis). Chromosomal abnormalities such as Down syndrome can be diagnosed before birth by analyzing cells in the amniotic fluid or from the placenta. Fetal ultrasound during pregnancy can also give information about the possibility of certain birth defects, but ultrasound is not 100 percent accurate, since some babies with birth defects may look the same on ultrasound as those without problems. A chromosome analysis, whether performed on a blood sample or cells from the amniotic fluid or placenta, is over 99.9 percent accurate.



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