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Overview of Birth Defects

By Gregory S. Liptak, MD, MPH, Upstate Medical University

Birth defects, also called congenital anomalies, are physical abnormalities that occur before a baby is born. They are usually obvious at birth or by 1 year of age.

  • The cause of many birth defects is unknown, but infections, genetics, and certain environmental factors increase the risk.

  • The diagnosis is based on the mother's risk factors, the results of an ultrasound, and sometimes blood tests, amniocentesis, or chorionic villus sampling.

  • Some birth defects can be prevented by maintaining good nutrition while pregnant and avoiding alcohol, radiation, and certain drugs.

  • Some birth defects can be corrected with surgery or drugs.

Birth defects can involve any part of any organ in the body. Some birth defects are more common than others. Birth defects are the leading cause of death in infants in the United States, and some cause the death of the fetus. A birth defect is evident in about 7.5% of all children by age 5 years, although many of these are minor. Major birth defects are evident in about 3 to 4% of newborns. Several birth defects can occur together in the same infant.

Other Birth Defects

Major System

Birth Defect

What Happens



Hypoplastic left heart syndrome

Underdevelopment of the left ventricle, leading to inability to pump blood to the body

Separate operations to rebuild the left ventricle or a heart transplant

Digestive tract

Omphalocele and gastroschisis

Hole in or weakening of abdominal muscles, allowing internal abdominal organs to protrude externally

Surgery to close the abdomen


Missing limb

Limb may not form or may be "amputated" in the womb

Artificial limb and therapy to help child adapt and be functional

Prune-belly syndrome

Missing layers of abdominal muscles, causing the abdomen to bulge; urinary system defects often develop

Surgery if a urinary system defect blocks urine flow



Brain tissue is missing and is replaced with fluid-filled sacs

No treatment is available; ventricular shunt may decrease pressure


Severe porencephaly with little remaining brain tissue

No treatment is available


Vanishing testes (bilateral anorchia; testicular regression)

Both testes are absent at birth

Supplemental male hormone (testosterone) beginning before puberty

Causes and Risks

It is not surprising that birth defects are fairly common, considering the complexities involved in the development of a single fertilized egg into the millions of specialized cells that constitute a human being. Although the cause of most birth defects is unknown, certain genetic and environmental factors increase the chance of birth defects developing. These factors include exposure to radiation, certain drugs (see Table: Some Drugs That Can Cause Problems During Pregnancy*), alcohol, isotretinoin, nutritional deficiencies, certain infections in the mother, injuries, and hereditary disorders. Some risks are avoidable. Others occur no matter how strictly a pregnant woman adheres to healthful living practices.

Exposure to Harmful Substances (Teratogens):

A teratogen is any substance that can cause or increase the chance of a birth defect. Radiation (including x-rays), certain drugs, and toxins (including alcohol) are teratogens. Most pregnant women who are exposed to teratogens have newborns without abnormalities. Whether a birth defect occurs depends on when, how much, and how long the pregnant woman was exposed to the teratogen. Exposure to a teratogen most commonly affects the fetal organ that is developing most rapidly at the time of exposure. For example, exposure to a teratogen during the time that certain parts of the brain are developing is more likely to cause a defect in those areas than exposure before or after this critical period. Many birth defects develop before a woman knows she is pregnant.


Keeping a fetus healthy requires maintaining a nutritious diet. For example, insufficient folic acid (folate) in the diet increases the chance that a fetus will develop spina bifida or other abnormalities of the brain or spinal cord known as neural tube defects (see Neural Tube Defects). Cleft lip or cleft palate is also more likely to develop. Maternal obesity also increases the risk of a neural tube defect.

Genetic and Chromosomal Factors:

Chromosomes and genes may be abnormal. These abnormalities may be inherited from the parents, who can be affected by the condition or who can be carriers without symptoms (see Sex chromosomes). However, many birth defects are caused by seemingly random and unexplained changes (mutations) in the genes of the child. Most birth defects caused by genetic factors include more than just the obvious malformation of a single body part.


Certain infections in pregnant women can cause birth defects. Whether an infection causes a birth defect depends on the age of the fetus. The infections that most often cause birth defects are cytomegalovirus, herpesvirus, parvovirus (fifth disease), rubella (German measles), varicella (chickenpox), toxoplasmosis (which can be transmitted in cat litter), and syphilis. A woman can have such an infection and not know it, because these infections can cause few or no symptoms in adults.


During pregnancy, doctors assess whether a woman is at increased risk of having a baby with a birth defect (see Prenatal Diagnostic Testing). The chance is higher for women who are older than 35 years; have had frequent miscarriages; or have had other children with chromosomal abnormalities, birth defects, or who died for unknown reasons. These women may need special tests to find out whether their baby is developing normally.

Prenatal ultrasonography can often detect specific birth defects. Sometimes blood tests can also help. For example, a high level of alpha-fetoprotein in the mother's blood may indicate a defect of the brain or spinal cord (see Screening of the Pregnant Woman : Second-Trimester Screening). Amniocentesis (removing fluid from around the fetus) or chorionic villus sampling (removing tissue from the sac around the developing baby) may be necessary to confirm a suspected diagnosis. Increasingly, birth defects are being diagnosed before the baby is born.

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