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Birth defects facts*
*Birth defects facts by John P. Cunha, DO, FACOE
- Birth defects are structural or functional abnormalities present at birth that cause physical or mental disability. They are the leading cause of death for infants during the first year of life.
- Birth defects may be caused by genetic problems, problems with chromosomes, or environmental factors.
- Structural birth defects are related to a problem with body parts such as cleft lip or cleft palate, heart defects such as missing or misshaped valves, abnormal limbs such as a club foot, and neural tube defects such as spina bifida.
- Functional birth defects are related to a problem with how a body part or body system works. These problems often lead to developmental disabilities and can include things such as nervous system or brain problems, sensory problems, metabolic disorders, and degenerative disorders.
- Treatments for birth defects vary by disorder.
What are birth defects?
Birth defects are structural or functional abnormalities present at birth that cause physical or mental disability. Some may be fatal.
Researchers have identified thousands of different birth defects. Currently, birth defects are the leading cause of death for infants during the first year of life.
What causes birth defects?
Birth defects have a variety of causes, such as:
Genetic problems caused when one or more genes doesn't work properly or part of a gene is missing
Problems with chromosomes, such as having an extra chromosome or missing part of a chromosome
What are the different types of birth defects?
There are two main types of birth defects: structural and functional/developmental.
Structural birth defects are related to a problem with body parts. Some physical problems include cleft lip or cleft palate, heart defects, such as missing or misshaped valves, and abnormal limbs, such as a club foot. They also include neural tube defects, such as spina bifida, problems that are related to the growth and development of the brain and spinal cord.
Functional birth defects are related to a problem with how a body part or body system works. These problems often lead to developmental disabilities and can include things such as:
Nervous system or brain problems - such as learning disabilities, mental retardation, behavioral disorders, speech or language difficulties, convulsions, and movement trouble. Some examples of birth defects that affect the nervous system include Autism, Down syndrome, Prader-Willi syndrome, and Fragile X syndrome.
Metabolic disorders - involve a body process or chemical pathway or reaction, such as conditions that limit the body's ability to get rid of waste materials or harmful chemicals. Two common metabolic disorders are phenylketonuria (PKU) and hypothyroidism.
Degenerative disorders--are conditions that might not be obvious at birth, but cause one or more aspects of health to steadily get worse. For example, X-linked adrenoleukodystrophy (X-ALD), which was the focus of the movie Lorenzo's Oil, Rett syndrome, muscular dystrophy, and lysosomal disorders are examples of degenerative disorders.
In some cases, birth defects are caused by a combination of factors. Some recognized patterns of birth defects affect many parts or processes in the body, leading to both structural and functional problems.
What are the treatments for birth defects?
Treatments for birth defects vary by disorder. Talk to your health care provider for more information about treatments for birth defects.
Last update: 5/14/2008
SOURCE: National Institutes of Child Health and Human Development, National Institutes of Health
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AmniocentesisDuring an amniocentesis, a sample of the amniotic fluid is taken to screen for certain birth defects (Down's syndrome, neural tube defects, spina bifida, cystic fibrosis), lung maturity of the fetus, infection, or chromosome analysis. Amniocentesis is recommended for women giving birth after the age of 35.
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Ear TubesWhen a child has repeated middle ear infections or fluid build-up in the ears, which causes problems with speech or hearing, surgery to place tubes inside the ear is often recommended. The surgery is called myringotomy. Preparing your child for this procedure will help comfort them, and knowing what to expect before, during, and after surgery is important as well.
The definition of a genetic disease is a disorder or condition caused by abnormalities in a person's genome. Some types of genetic inheritance include single inheritance, including cystic fibrosis, sickle cell anemia, Marfan syndrome, and hemochromatosis. Other types of genetic diseases include multifactorial inheritance. Still other types of genetic diseases include chromosome abnormalities (for example, Turner syndrome, and Klinefelter syndrome), and mitochondrial inheritance (for example, epilepsy and dementia).
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HydrocephalusHydrocephalus is an abnormal buildup of cerebrospinal fluid (CSF) in the ventricles of the brain. The fluid is often under increased pressure and can compress and damage the brain. Symptoms of hydrocephalus vary with age, progression of the disease, and individual tolerance to the condition. Hydrocephalus is most often treated by surgery in which a shunt system is inserted.
Prenatal UltrasoundA prenatal ultrasound test uses high-frequency sound waves, inaudible to the human ear, that are transmitted through the abdomen via a device called a transducer to look at the inside of the abdomen. With prenatal ultrasound, the echoes are recorded and transformed into video or photographic images of your baby. An ultrasound examination is also known as a sonogram.
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