Birth Defects

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

Environmental Causes Mother’s diet Diseases or infections of mother during pregnancy Harmful substances – alcohol, tobacco, drugs used by mother Medicine Radiation

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

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

Hereditary Birth Defects

Causes problems of the motor system Cerebral Palsy Causes problems of the motor system

Cleft Lip – Cleft Palate A gap in the upper lip or palate Can be corrected with surgery

Affects the respiratory and digestive systems Cystic Fibrosis Affects the respiratory and digestive systems

Down Syndrome An extra #21 chromosome Results in: Intellectual disability Physical growth delays Characteristic facial features

Progressive weakness and shrinking of the muscles Muscular Dystrophy Progressive weakness and shrinking of the muscles

PKU - Phenylketonuria Inability to process a specific protein A blood sample is taken from newborns for testing

Malformed red blood cells interfere with supplying oxygen to the body Sickle Cell Anemia Malformed red blood cells interfere with supplying oxygen to the body

Spina Bifida Incompletely formed spinal cord Folic Acid (in multivitamin or pill-form) reduces incidences of Spina Bifida by 70%

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

A rare bleeding disorder in which the blood doesn't clot normally. Hemophilia A rare bleeding disorder in which the blood doesn't clot normally.

Club Foot Foot appears to have been rotated internally at the ankle http://en.wikipedia.org/wiki/Club_foot Foot appears to have been rotated internally at the ankle With treatment, the vast majority of patients recover completely during early childhood

Dwarfism can be caused by over 200 distinct medical conditions

Environment Related Birth Defects

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

Fetal Alcohol Syndrome Physical and mental problems for the baby resulting from the mother drinking alcohol while pregnant

Tobacco/Nicotine The more a mother smokes, the smaller her baby is likely to be

Fumes that are inhaled into the lungs Inhalants Fumes that are inhaled into the lungs

Illegal Drugs Heroin LSD Marijuana Cocaine Methamphetamines

Effects of Thalidomide Once prescribed in the 1950’s as a sleeping aide Babies were born without limbs and with organ defects

Caffeine Increase baby's heart rate Baby may have lower birth weight

Prescription Drugs

Radiation can cause birth defects X Rays Radiation can cause birth defects

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

Sexually Transmitted Diseases Syphilis Gonorrhea Hepatitis B Genital Herpes AIDS

Premature Babies

Uncommon Birth Defects

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

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

Ambras Syndrome Excessive hair over the face and body Only 40 known cases at the current time

Cyclopia One eye in the middle of their head Related to cancer treatment drugs taken by pregnant women

Foetus in Foetu A child born with his twin inside them Lives off it like a parasite Surgery can usually remove

Progeria 1 in 8,000,000 Aged well beyond their years Lose hair and develop wrinkles Most die by adolescence

Born with a semi-functional tail Vestigial Tail Born with a semi-functional tail

Cri du Chat Birth defect in the larynx Removal of genes from chromosome 5

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.

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.

Hydrocephalus Excess fluid surrounds the brain Shunt is placed in cerebral area to drain fluid

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