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Birth Defects
Statistics
• 1 out of every 33 babies are born with some
birth defect
• 120,000 babies are born each year in the U.S.
with some birth defect
• Birth Defects are the leading cause of infant
deaths
• They account for more than 20% of all infant
deaths
• Medical costs exceed 1.4 billion annually
Definition
An abnormality of structure, function, or body
metabolism which often results in a physical or
mental handicap, shortens life, or causes death.
– The nations most serious child health problem.
– 120,000 babies in the United States affected each
year.
Types/Classifications
1. Malformation Present at Birth
2. Metabolic Disorder
3. Blood Disorder
4. Chromosomal Abnormalities
5. Perinatal High-Risk Conditions
Malformation Present at Birth
• Examples are:
Congenital heart malformations – heart deformities
Spina Bifida – failure of the spine to close
• Hydrocephalus – “water on the brain”
Cleft Lip/Palate – lip or roof of mouth fails to close
Clubfoot – different degrees
Metabolic Disorder
• Examples are:
Tay-Sachs Disease – unable to break down fatty
deposits on the brain.
Cystic Fibrosis – affects glands and digestive system.
Familial Hypercholesterolemia – causes early heart
attacks
Blood Disorders
• Examples are:
Sickle Cell Anemia – misshapen blood cells.
Thalassemia – results in the destruction of red blood
cells and anemia.
Hemophilia – bloods inability to clot.
Chromosomal Abnormalities
• Examples are:
Down’s Syndrome – extra chromosome (47th)
Turner’s Syndrome – females have an extra x
chromosome (xxx)
Klinefelter’s Syndrome – males have an extra x
chromosome (xxy)
Perinatal High Risk Conditions
• Examples are:
Low Birth Weight – #1 Birth Defect in the country today
Premature
Fetal alcohol syndrome (FAS)
Drug addictions
Causes
Heredity
– Dominant/recessive traits
– Homozygous/heterozygous
Maternal Environment
– Infection
– Substance abuse
Larger Environment
– Environmental factors
– Chemicals/Pollutants
Detection and Diagnosis
• Pre-Natal Diagnosis
– Amniocentesis – withdraw amniotic fluid
– Ultrasound – structural defects
– Chorionic Villus Sampling – sample of cells from the
chorian (layer of tissue within the placenta)
• Visual Exam at Birth
• Blood Tests at Birth
Treatment
Before Birth:
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Medication
Transfusions
Hormone Injections
Vitamin Therapy
Surgery
After the Birth:
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Corrective Surgery
Chemical Regulation
Prosthesis
Transplants
Rehabilitative Training
Prevention
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Early and regular prenatal care.
Vaccines
Genetic Services/Genetic Testing
Education – understanding what birth defects are
and the causes of them.
• The March of Dimes – “To Protect the Unborn
and the Newborn.”
Birth Defects
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Fetal Alcohol Syndrome
Congenital Heart Defects
Down’s Syndrome
Low Birthweight
Sickle Cell Anemia
Spina Bifida
Cleft Lip/Palate
Clubfoot
Thalassemia
Tay - Sachs