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Birth Defects Birth Defects
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Birth Defects
• Serious problems some babies are born with that threaten their health or ability to live
• 3/100 U.S. children have a birth defect
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Environmental Causes
1. Mother’s diet
2. Diseases or infections of mother during pregnancy
3. Harmful substances – alcohol, tobacco, drugs used by mother
4. Medicine
5. Radiation
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Hereditary Causes
• A dominant defective gene is passed from one parent– parent carries and has trait
• A recessive defective gene is passed from each parent– parent carries but do not have trait
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Errors in Chromosomes
• Too many or too few chromosomes
• A child with Down Syndrome has an extra chromosome #21
• Occurs 1 in 800 births
• Risk increases if mother is over age 35
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Hereditary Birth DefectsHereditary Birth Defects
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Cerebral Palsy
Causes problems of the motor system
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Cleft Lip – Cleft Palate
• A gap in the upper lip or palate• Can be corrected with surgery
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Cystic Fibrosis
Affects the respiratory and digestive systems
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Down Syndrome
• An extra #21 chromosome• Results in: – Intellectual disability– Physical growth delays– Characteristic facial features
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Muscular Dystrophy
Progressive weakness and shrinking of the muscles
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PKU - Phenylketonuria
•Inability to process a specific protein•A blood sample is taken from newborns for testing
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Sickle Cell Anemia
Malformed red blood cells interfere with supplying oxygen to the body
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Spina Bifida
• Incompletely formed spinal cord
• Folic Acid (in multivitamin or pill-form) reduces incidences of Spina Bifida by 70%
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Tay-Sachs Disease
• Lacks a chemical in blood making body unable to process and use fats
• The condition leads to brain damage and death, usually by age 4
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Hemophilia
A rare bleeding disorder in which the blood doesn't clot normally.
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Club Foot
• Foot appears to have been rotated internally at the ankle
• With treatment, the vast majority of patients recover completely during early childhood
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Dwarfism
Dwarfism can be caused by over 200 distinct medical conditions
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Environment Related Environment Related Birth Defects Birth Defects
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Environment Related Birth Defects
• Harm to the baby varies greatly:– What substance was taken by mother– How much and how often it was taken– The stage of development of the baby
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Fetal Alcohol Syndrome
Physical and mental problems for the baby resulting from the mother drinking alcohol while pregnant
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Tobacco/Nicotine
The more a mother smokes,the smaller her baby is likely to be
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Inhalants
• Fumes that are inhaled into the lungs
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Illegal Drugs
• Heroin
• LSD
• Marijuana
• Cocaine
• Methamphetamines
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Effects of Thalidomide
• Once prescribed in the 1950’s as a sleeping aide
• Babies were born without limbs and with organ defects
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Caffeine
• Increase baby's heart rate• Baby may have lower birth weight
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Prescription Drugs
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X Rays
Radiation can cause birth defects
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Rubella (German Measles)
• If a mother is infected while pregnant– Cause miscarriage, preterm birth, or stillbirth– Can result in deafness, blindness, heart disease, or mental
retardation of baby
• A vaccine is available
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Sexually Transmitted Diseases
• Syphilis
• Gonorrhea
• Hepatitis B
• Genital Herpes
• AIDS
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Premature Babies
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Uncommon Birth DefectsUncommon Birth Defects
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Mermaid Syndrome
If the mother during pregnancy has:
•A major illness•Physical/mental stress•Excessive exposure to radiation •An inherited genetic disorders•Inadequate prenatal care
• 1 in 70,000 births
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Shiloh Pepin
• Surgery- not an option
• She had a partially working kidney, no lower colon, and no genital organs.
• Died at age 10 of pneumonia
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Ambras Syndrome
• Excessive hair over the face and body
• Only 40 known cases at the current time
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Cyclopia
• One eye in the middle of their head
• Related to cancer treatment drugs taken by pregnant women
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Foetus in Foetu
• A child born with his twin inside them
• Lives off it like a parasite
• Surgery can usually remove
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Progeria
• 1 in 8,000,000• Aged well
beyond their years
• Lose hair and develop wrinkles
• Most die by adolescence
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Vestigial Tail
Born with a semi-functional tail
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Cri du Chat
• Birth defect in the larynx
• Removal of genes from chromosome 5
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Hypospadias
• The opening of the urethra is not located at the tip of the penis.
• Not treated: can lead difficulty performing sexual intercourse or urinating while standing.
• 5 out of every 1,000 boys born in the United States have this.
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Anencephaly
• Neural tube defect that occurs when the rostral (head) end of the neural tube fails to close
• Between the 23rd and 26th day of conception
• Results in the absence of a major portion of the brain, skull, and scalp.
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Hydrocephalus
• Excess fluid surrounds the brain• Shunt is placed in cerebral area to drain fluid
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Birth Defect Statistics (babies per year)
• Down syndrome: 6,916
• Cleft lip and/or cleft palate: 6,776
• Heart defects: 6,527
• Musculoskeletal defects : 5,799 Stomach/intestinal defects: 2,883
• Eye defects: 834