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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.
What is a Birth Defect?
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
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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
o 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
Dominant gene traits are stronger than recessive traits
Defective recessive genes are inherited from both parents
Defective dominant genes 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 SyndromeOne extra chromosome- 47 chromosomes
Characteristics: mental retardation, heart problems, leukemia, poor muscle tone, short stature and distinct facial characteristics
Easyhealth.org.
http://caymanpei.blogspot.com
nlm.nih.gov/
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; enlargedhead 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 partscaused by incomplete closureat 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 to environment 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 Damageo Infectionso Drugso Maternal disorders such as diabeteso High blood pressureo Rh diseaseo Umbilical cord accidentso Difficult labor or deliveryo 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
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
Can birth defects be prevented?
What causes birth defects?
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?
Ultrasound
Amniocentsis
Chorionic villus sampling
How can some birth defects be treated before birth?
Preventing Birth Defects
•Avoid…
•Take daily multi-vitamins containing 400mg of the B-vitamin folic acid.
Review
Define birth defectWhat factors contribute to birth
defects?How can some birth defects be
diagnosed before birth?How can birth defects be prevented?
