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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.
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Last update: 5/14/2008
SOURCE: National Institutes of Child Health and Human Development, National Institutes of Health
Top Birth Defects Related Articles
AchondroplasiaA common form of short stature, achondroplasia (dwarfism) is a genetic condition causing a disorder of bone growth. Complications of achondroplasia that need monitoring include (this is not all inclusive) stenosis and compression of the spinal cord, a large opening under the skull, lordosis, kyphosis, spinal stenosis, hydrocephalus, middle ear infections, obesity, and dental crowning. Achondroplasia is caused by mutations of the FGFR3 gene.
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.
Apgar ScoreThe Apgar score is a method for assessing a neonate's heart rate, respiratory effort, muscle tone, skin color, and reflex irritability. Each of these signs is give a point value from 0-2. A perfect score of 10 means the infant is in excellent condition, while a score of 0-3 means the infant needs immediate resuscitation.
Branchial CystA branchial cyst is a congenital remnant from embryologic development that appears on the side of the neck. The cyst may develop a sinus or drainage pathway to the surface of the skin. Sometimes, a branchial cyst can become infected. Surgical excision is the treatment of choice.
Chorionic Villus SamplingThis prenatal test involves taking a small sample of cells from the placenta to check for birth defects, genetic diseases, and other problems. Candidates for the test include pregnant women age 35 years or older, couples who have had a child with a birth defect, and pregnant woman who have had other abnormal genetic test results. Potential risks of the test include miscarriage and infection. Cells may be collected through the vagina or through the abdomen.
Fetal Alcohol Syndrome (FAS)Consuming alcohol during pregnancy may cause fetal alcohol syndrome, a group of conditions associated with mental, growth, and physical problems. Children with fetal alcohol syndrome may have a small head, short stature, low IQ, and abnormal facial features. Early intervention programs can lessen the impact of motor, cognitive, and language impairments.
MicrocephalyMicrocephaly is a genetic condition where the circumference of the head is smaller than normal due to underdeveloped brain. Microcephaly is caused by genetic abnormalities, abuse of alcohol or drugs, infection (for example, Zika virus, German measles, or chickenpox), exposure to toxins, or PKU while the mother is pregnant. Symptoms of microcephaly depend upon the severity of the accompanying syndrome. There is no treatment for microcephaly.
Miscarriage Causes and SymptomsMiscarriage is the medical term for the spontaneous loss of pregnancy from conception to 20 weeks gestation. Risk factors for a woman having a miscarriage include cigarette smoking, older maternal age, radiation exposure, previous miscarriage, maternal weight, illicit drug use, use of NSAIDs, and trauma or anatomical abnormalities to the uterus. There are five classified types of miscarriage: 1) threatened abortion; 2) incomplete abortion; 3) complete abortion; 4) missed abortion; and (5 septic abortion. While there are no specific treatments to stop a miscarriage, a woman's doctor may advise avoiding certain activities, bed rest, etc. If a woman believes she has had a miscarriage, she needs to seek prompt medical attention.
Pregnancy Planning (Preparing for Pregnancy)
Pregnancy planning is an important step in preparation for starting or expanding a family. Planning for a pregnancy includes:
- Taking prenatal vitamins
- Eating healthy for you and your baby
- Disease prevention (for both parents and baby) to prevent birth defects and infections
- Avoiding certain medications that may be harmful to your baby
- How much weight gain is healthy
- Exercise safety and pregnancy
- Travel during pregnancy
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.
Stages of PregnancySee pictures on the various stages of pregnancy. See and learn what changes a woman's body goes through and view fetal images of how her baby grows during the 1st, 2nd and 3rd trimesters.
Worried About Zika Virus?A quick guide to the Zika virus, its causes, symptoms, and treatment options. Find out how Zika is transmitted by mosquitoes, Zika's effects on pregnancy, as well as how to protect yourself from the Zika virus.