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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: – – – – – Medication Transfusions Hormone Injections Vitamin Therapy Surgery After the Birth: – – – – – Corrective Surgery Chemical Regulation Prosthesis Transplants Rehabilitative Training Prevention • • • • 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 • • • • • Fetal Alcohol Syndrome Congenital Heart Defects Down’s Syndrome Low Birthweight Sickle Cell Anemia Spina Bifida Cleft Lip/Palate Clubfoot Thalassemia Tay - Sachs