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Congenital Disorders (Birth Defects)

 
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Congenital disorders (birth defects) are an abnormality of body structure, function or chemistry present at birth that results in physical or mental disabilities.

Congenital disorders are the leading cause of death in the first year of life. While there are thousands of possible types of disorders, with health consequences that range from mild to life threatening, Down syndrome and cleft lip or cleft palate are the most common in the United States. About 5,500 babies are born each year with Down Syndrome, and about 6,800 with a cleft lip or palate.

While all the causes of congenital disorders are not known, some disorders can be prevented. Actions you and your doctor take can help prevent congenital disorders and make a better life for your baby.

Causes of congenital disorders

The causes of many congenital disorders are still unknown. Those with known causes can be divided into four types:

  • Single-gene: These are disorders that can be inherited from just one gene from one or both parents. The parents can be perfectly healthy, and unaware that they carry a defective gene. Cystic fibrosis is an example of this.

  • Chromosomal: These are caused by abnormalities in entire chromosomes (groups of genes), or having too few or too many of a certain chromosome in the parents' reproductive cells. Although the parents are healthy, the normal development of the child is disrupted. Down syndrome is caused by a chromosomal birth defect.

  • Environmental:These disorders are caused by factors such as alcohol or chemicals that come from outside the developing child's body. The parents can control exposure to some of these factors, such as alcohol and tobacco smoke. Fetal alcohol syndrome is one example of an environmental birth defect.

  • Multi-factor: caused by a combination of several of the above.

Some congenital disorders can be prevented

  • Environmental birth disorders can be prevented by avoiding their causes. This includes avoiding alcohol, or ensuring proper nutrition during pregnancy.
  • Inherited disorders can be prevented by identifying them in the parents before a baby is conceived.

It's vital to visit your doctor before you become pregnant in order to identify and treat conditions that can pose a risk in pregnancy. A doctor can give advice on the lifestyle factors before and during pregnancy that can contribute to or reduce the risk of congenital disorders.

5 Tips for Preventing Birth Disorders

  1. Be sure to take 400 micrograms (mcg) of folic acid every day.
  2. Book a visit with your healthcare provider before stopping or starting any medicine.
  3. Become up-to-date with all vaccines, including the flu shot.
  4. Before getting pregnant, try to reach a healthy weight.
  5. Boost health by avoiding harmful substances during pregnancy, such as alcohol, tobacco and other drugs.

Prevent to Protect

Infections can affect the health of your developing baby and lead to birth defects. During pregnancy, take these measures to keep your risk of infections low.

Specific Conditions

Fact Sheets and Other Resources

Last reviewed on May 18, 2021

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