Alternative Names
congenital abnormalities; congenital anomalies; congenital malformations; birth defect
Symptoms & Characteristics
A congenital birth defect is an abnormality of structure, function or metabolism (body chemistry) that is present at birth. Birth defects can lead to physical and/or mental problems. Birth defects can range from mild to severe. Some severe birth defects can be fatal.
Several thousand birth defects have been identified. Some of the most common birth defects that occur during embryonic development include:
- Oral-facial clefts - involve failure of proper fusion of the tissues that form the upper lip and palate
- Neural tube defects - involve failure of proper closure of the neural tube (the structure that becomes spinal cord and brain)
Treatment
The overall treatment, prognosis and management is dependent upon which part of the body is affected and how severely it is affected.
How Common Is It?
About 3-4% of all babies are born with a birth defect. Therefore, about 96-97% of all babies are born healthy.
Genetics & Inheritance
Birth defects can be caused by genetic factors, environmental factors or a combination of both. Most of the time, a cause is not found.
- Environmental substances that can cause birth defects following fetal exposure during pregnancy are called teratogens. A teratogen can be a prescribed medication, a street drug, alcohol use, certain chemicals, a maternal infection or a maternal disease. About 4-5% of all birth defects are caused by exposure to a teratogen.
An evaluation by a medical geneticist may be helpful in establishing a cause. Determining cause is important for not only the health and management of the affected person but also for an accurate estimation of recurrence risk within a family.
Genetic Testing
The availability of clinical genetic testing is dependent upon the type of birth defect and if there is a known genetic cause. The availability of clinical genetic testing can be discussed with a genetic counselor and/or a medical geneticist.
It is always recommended to see genetic counseling with a trained genetic professional for a complete evaluation, accurate diagnosis, and discussion of the benefits and limitations of testing and recurrence risk. Use our find a genetic professional directory to locate a trained genetic professional in your area.
Support & More Information
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