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Birth Defects 3.01 Revised 10/19/10 K.Brown
FACTS • About 150,000 babies are born each year with birth defects. • The parents of one out of every 28 babies are told that their baby has a birth defect • There are over 4,000 known birth defects • Birth defects are the leading cause of death in the first year of life.
A birth defect is • An abnormality present at birth that affects the body structure or functions and may threaten a baby’s health. • Birth defects can be caused by environmental factors, inherited factors or both.
Environmental influences on birth defects Inadequate prenatal nutrition for the mother can stunt brain development, lead to mental retardation of the baby, and increase the risk of birth defects, and low birth weight.
Environmental influences on birth defects-disease or infection exposure during pregnancy Rubella (German measles)- during the 1st trimester can cause blindness, deafness, heart disease and retardation Toxoplasmosis, a parasite in cat litter and some raw meat, can cause blindness, hearing loss, learning disabilities and death http://images.google.com/imgres?imgurl=http://www.users.cloud9.net/
Environmental influences on birth defects-disease or infection exposure during pregnancy • Varicella (AKA chicken pox) during 1st half of pregnancy may cause scarring of baby’s skin, limb defects, physical disabilities and death • STDs (Sexually transmitted ) can be passed to the unborn child and cause serious illness, physical disabilities, or death
Environmental influences on birth defects • Harmful substances consumed during pregnancy Nicotine (from smoking tobacco or secondhand smoke) • Low birth weight- smaller than average babies • Miscarriages and premature deliveries • Respiratory infections and allergies
Environmental influences on birth defects-harmful substances consumed (cont.) • Alcohol can cause FAS or Fetal Alcohol Syndrome • 20% of infants die • Facial deformities, delayed growth, heart defects, hyperactivity • Mental retardation or disabilities • Poor coordination • Difficulty in controlling behavior nlm.nih.gov
Environmental influences on birth defects-harmful substances consumed (cont.) Drugs- over-the counter, prescription, and illegal • Do not take drugs without a doctor’s permission • Addiction is passed to baby; baby goes through painful withdrawal after birth • Cause severe, long-term behavior and learning problems
Environmental influences on birth defects-harmful substances consumed (cont.) • Caffeine increased risk of miscarriage,low birth-weight and infant death • Cocaine- risk of miscarriage, stroke leading to brain damage, heart attack, birth abnormalities or death; tremors, irritability, sleep problems and delayed development • Ecstasy leads to heart defects and physical abnormalities
Environmental influences on birth defects-Hazard exposure during pregnancy • Lives in a home built before 1955 (lead paint) or 1986 (lead solder) • Chemicals-some types of paint, pesticides, CO2, carbon monoxide, mercury, solvents and paint thinners, formaldehyde may cause physical and mental defects in unborn baby • Toxoplasmosis can cause miscarriage, still birth, eye and brain damage (constant exposure to cats) • X-rays during pregnancy can cause childhood cancer, miscarriage, mental retardation.
Environmental influences on birth defects-Accidental Injuries • Cerebral Palsy – caused by damage to the brain before, during, or shortly after birth http://advocacy.britannica.com/ • Damage to embryo and fetus from accidents can lead to birth defects
Hereditary influences on birth defects – General Information • Dominantgene traits are stronger than recessive traits • Defective recessive genes are inherited from both parents • Defectivedominantgenes are inherited from one parent • Errors with the structure or number of chromosomes
Inherited recessive birth defects 1. Cystic Fibrosis-causes mucus to build up and clog the lungs and make breathing very difficult. • Caucasians • Shortened life expectancy • Symptoms-Salty-tasting skin, coughing,bronchitis, shortness of breath, poor growth/weight gain in spite of a good appetite, frequent greasy, bulky stools http://images.google.com/symptomchecker.aarp.org
Inherited recessive birth defects • 2. Tay-Sachs a metabolic defect which affects the nervous system • Jewish ancestry • Children appear normal at first and then slowly fail to develop and lose body functions • Enzyme deficiency that allows fat to build in the brain and nerves; brain damage, blindness, and loss of brain function. • Death usually occurs by age five commercialappeal.com
Inherited recessive birth defects 3. PKU (Phenylketonuria) • The body is unable to process and use a protein that is in most foods • All newborns are tested by law for PKU using a simple blood test • No cure, but a special low-protein diet can prevent brain damage
Inherited recessive birth defects 4. Sickle Cell Anemia-blood disorder deprives the body of oxygen • Associated with African-American decent medicinenet.com/ http://adultstemcellawareness.
Inherited dominant gene birth defects 1. Hemophilia-passed to sons from mothers only-prevents blood clotting 2. Huntington’s Disease-manifests in adulthood and leads to dementia 3. Duchenne Muscular Dystrophy- passed by mother to male children 4.Color Blindness-usually affects males
Hereditary Influences: Chromosomal Abnormalities 1. Down Syndrome One extra chromosome- 47 chromosomes Characteristics: mental retardation, heart problems, leukemia, poor muscle tone, short stature and distinct facial characteristics Easyhealth.org. nlm.nih.gov/ http://caymanpei.blogspot.com
Heredity and environmental influences • Genetic and environmental factors can cause birth defects • The cause of about 60% of birth defects are not yet known • A single abnormal gene can cause birth defects….you have about 100,000 genes that determine traits like eye color, hair, …..
Malformations caused by a combination of both environmental and hereditary factors 1. Spina bifida (open spine) • Loss of body movement; enlarged head due to fluid buildup (hydrocephalus). Caused by lack of folic acid ahealthyme.com 2. Cleft lip/palate • Gap in the roof of the mouth or Upper lip divided into two parts caused by incomplete closure at 5 to 7 weeks after conception. todayshottopic.com
Malformations caused by a combination of both environmental and hereditary factors 3. Heart Defects An inherited tendency to develop a heart defect combined with drug use or virus during pregnancy can cause the baby to have a heart defect goofyj.wordpress.com healinglittlehearts.com
Multiple births due toenvironment and heredity 4. Hyper-ovulation gene inherited from mother leads to fraternal twins 5. Twin-to-twin syndrome (TTTS) One twin takes nourishment from the other; caused by fertility drugs http://scienceblogs.com
Causes of Prenatal Damage • Infections • Drugs • Maternal disorders such as diabetes • High blood pressure • Rh disease • Umbilical cord accidents • Difficult labor or delivery • Premature birth
Factors that contribute to Birth Defects: • Overweight/Underweight • Ethnic/cultural background • Health problems • Epilepsy • No immunizations against rubella • STDs: Genital herpes,Gonorrhea,Syphilis
Can birth defects be prevented? • The potential causes of most birth defects are not known • There are steps a woman can take to reduce the risk of having a baby with a birth defect
How can some environmental birth defects be avoided? • Visit a health care provider for a pre-pregnancy check up; especially if a woman has health problems • When pregnant take daily prenatal vitamins containing 400 mg of the B-vitamin folic acid • Avoid alcohol, drugs, smoking, prescription or over-the-counter medication unless prescribed by a health care provider
How can some birth defects be diagnosed before birth?UltrasoundAmniocentsisChorionic villus sampling
Preventing Birth Defects • Avoid… • Take daily multi-vitamins containing 400mg of the B-vitamin folic acid.
Review • Define birth defect • What factors contribute to birth defects? • How can some birth defects be diagnosed before birth? • How can birth defects be prevented?