congenital disease

Congenital disorders and diseases are present at or before the baby is born. About 3 to 4 percent of babies in the United States are born with congenital disorders that affect their appearance, development, or function. There are more than 4,000 congenital conditions, ranging from mild conditions that do not require treatment to serious conditions that require medical treatment or surgery.


In most cases, the cause of the congenital disorder is unknown.Once the cause is identified, it may be environmental, genetic, or both.


During conception, the child acquires a total of 46 chromosomes – 23 from the mother and 23 from the father. These chromosomes contain the genes that determine your unique characteristics – how you look, how you will grow, and how your body functions.

If something goes wrong in this process, your child may have the wrong number of chromosomes or damaged chromosomes, which could lead to a congenital disorder. Down syndrome is an example of a congenital disorder caused by extra chromosomes.

Sometimes even with the correct number of chromosomes, the genes on the chromosomes are abnormal. In some conditions, such as cystic fibrosis, the child will receive the same defective gene from both parents. In other conditions, such as Marfan syndrome, only one parent will pass on the abnormal gene.

READ ALSO:  Overview of Hereditary Hemochromatosis


For environmental reasons, babies are exposed to things that can cause congenital diseases during pregnancy. This can include infections or chemicals that affect the baby during critical stages of development.

Maternal infection can cause serious congenital disorders in the unborn baby, especially in the first nine weeks of pregnancy. These infections include toxoplasmosis, cytomegalovirus, chickenpox, and rubella. The mosquito-borne Zika virus has caused outbreaks in some countries and can cause a birth defect called microcephaly.

Drinking alcohol during pregnancy may lead to fetal alcohol syndrome, which can lead to brain damage and growth problems. Some medicines can also cause birth defects during the mother’s pregnancy. Be sure to check with your healthcare provider to make sure your medication is safe to take during pregnancy.


Congenital disorders can sometimes be diagnosed before the baby is born. Knowing if a baby has a congenital disorder or is at risk can help parents and healthcare providers plan medical care after birth.

Prenatal testing may include ultrasound, amniocentesis, or chronic chorionic villus sampling. Blood tests may also be done to screen for any risk of specific birth defects such as Down syndrome and spina bifida. In some cases, genetic testing may be done before birth to help determine if your baby is at risk for any disease. For example, if mom has the cystic fibrosis gene, dad can also be tested because both parents must be carriers for the baby to be at risk. Tests may also be ordered to determine if the mother has an infection or other medical condition that could be harmful to the fetus.

READ ALSO:  How to treat craniosynostosis

After birth, congenital disorders can be diagnosed through a physical examination or blood test. In the U.S., these screenings can vary by state, but all states test newborns for phenylketonuria (PKU), sickle cell disease, congenital hypothyroidism, and about 30 other conditions.


Treatment for congenital disorders varies by diagnosis. It may include medication to control symptoms and prevent complications, or it may involve surgery to correct structural problems. Talk to your healthcare provider to learn more about treatment options for your baby’s condition.


While many congenital conditions cannot be prevented, there are things you can do to help reduce your baby’s risk. They include:

  • Get the daily recommended amount of vitamins and minerals, especially folic acid, before and during pregnancy, which can help prevent birth defects in the brain and spine.
  • Make sure you are up to date on vaccinations. This can help prevent some infections that can lead to congenital conditions, such as rubella.
  • Avoid unnecessary medications that can cause birth defects. Discuss any medications you are taking with your healthcare provider to make sure they are safe to take during pregnancy.
  • Avoid harmful substances such as smoking and drinking alcohol during pregnancy.
  • Avoid traveling to areas with outbreaks of infections such as Zika.
READ ALSO:  phenergan drug warning

VigorTip words

If you are an expecting parent, talk with your healthcare provider about your baby’s risk of congenital disorders. They can help you understand screening and treatment options and provide guidance for future care.

Frequently Asked Questions

  • What does congenital mean?

    The term congenital is used to describe something that exists before or at birth. In many cases, it refers to a condition or disease that has always been a part of a person’s life, such as sickle cell disease or congenital hypothyroidism.

  • What are the risk factors for birth defects?

    Risk factors for congenital birth defects include genetic, socioeconomic or demographic factors, environment, infection, and maternal nutrition. Determining the exact cause of a congenital birth defect can be difficult because one or more factors can affect a baby’s development.