2 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 defectThere are over 4,000 known birth defectsBirth defects are the leading cause of death in the first year of life.
4 A birth defect isAn 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.
5 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.
6 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 retardationToxoplasmosis, a parasite in cat litter and some raw meat, can cause blindness, hearing loss, learning disabilities and death
7 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 deathSTDs (Sexually transmitted ) can be passed to the unborn child and cause serious illness, physical disabilities, or death
8 Environmental influences on birth defects Harmful substances consumed during pregnancyNicotine (from smoking tobacco or secondhand smoke)Low birth weight- smaller than average babiesMiscarriages and premature deliveriesRespiratory infections and allergies
9 Environmental influences on birth defects-harmful substances consumed (cont.) Alcohol can cause FAS or Fetal Alcohol Syndrome20% of infants dieFacial deformities, delayed growth, heart defects, hyperactivityMental retardation or disabilitiesPoor coordinationDifficulty in controlling behaviornlm.nih.gov
10 Environmental influences on birth defects-harmful substances consumed (cont.) Drugs- over-the counter, prescription, and illegalDo not take drugs without a doctor’s permissionAddiction is passed to baby; baby goes through painful withdrawal after birthCause severe, long-term behavior and learning problems
11 Environmental influences on birth defects-harmful substances consumed (cont.) Caffeine increased risk of miscarriage,low birth-weight and infant deathCocaine- risk of miscarriage, stroke leading to brain damage, heart attack, birth abnormalities or death; tremors, irritability, sleep problems and delayed developmentEcstasy leads to heart defects and physical abnormalities
12 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 babyToxoplasmosis can cause miscarriage, still birth, eye and brain damage (constant exposure to cats)X-rays during pregnancy can cause childhood cancer, miscarriage, mental retardation.
13 Environmental influences on birth defects- Accidental Injuries Cerebral Palsy – caused by damageto the brain before, during, orshortly after birthDamage to embryo and fetusfrom accidents can lead to birth defects
14 Hereditary influences on birth defects – General Information Dominant gene traits are stronger than recessive traitsDefective recessive genes are inherited from both parentsDefective dominant genes are inherited from one parentErrors with the structure or number of chromosomes
15 Inherited recessive birth defects 1. Cystic Fibrosis-causes mucus to build up and clog the lungs and make breathing very difficult.CaucasiansShortened life expectancySymptoms-Salty-tasting skin,coughing,bronchitis, shortnessof breath, poor growth/weightgain in spite of a good appetite,frequent greasy, bulky stools
16 Inherited recessive birth defects 2. Tay-Sachsa metabolic defect whichaffects the nervous systemJewish ancestryChildren appear normal at first and then slowly fail to develop and lose body functionsEnzyme 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
17 Inherited recessive birth defects 3. PKU (Phenylketonuria)The body is unable to process and use a protein that is in most foodsAll newborns are tested by law for PKU using a simple blood testNo cure, but a special low-protein diet can prevent brain damage
18 Inherited recessive birth defects 4. Sickle Cell Anemia-blood disorder deprives the body of oxygenAssociated withAfrican-Americandecentmedicinenet.com/
19 Inherited dominant gene birth defects 1. Hemophilia-passed to sons from mothers only-prevents blood clotting2. Huntington’s Disease-manifests in adulthood and leads to dementia3. Duchenne Muscular Dystrophy- passed by mother to male children4.Color Blindness-usually affects males
20 Hereditary Influences: Chromosomal Abnormalities 1. Down SyndromeOne extra chromosome- 47 chromosomesCharacteristics: mental retardation, heart problems, leukemia, poor muscle tone, short stature and distinct facial characteristicsEasyhealth.org.nlm.nih.gov/
21 Heredity and environmental influences Genetic and environmental factors can cause birth defectsThe cause of about 60% of birth defects are not yet knownA single abnormal gene can cause birth defects….you have about 100,000 genes that determine traits like eye color, hair, …..
22 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 acidahealthyme.com2. Cleft lip/palateGap in the roof of the mouth orUpper lip divided into two partscaused by incomplete closureat 5 to 7 weeks after conception.todayshottopic.com
23 Malformations caused by a combination of both environmental and hereditary factors 3. Heart DefectsAn inherited tendency to develop a heart defect combined with drug use or virus during pregnancy can cause the baby to have a heart defectgoofyj.wordpress.comhealinglittlehearts.com
24 Multiple births due to environment and heredity 4. Hyper-ovulation gene inherited from mother leads to fraternal twins5. Twin-to-twin syndrome (TTTS)One twin takes nourishment from the other; caused by fertility drugs
25 Causes of Prenatal Damage InfectionsDrugsMaternal disorders such as diabetesHigh blood pressureRh diseaseUmbilical cord accidentsDifficult labor or deliveryPremature birth
26 Factors that contribute to Birth Defects: Overweight/UnderweightEthnic/cultural backgroundHealth problemsEpilepsyNo immunizations against rubellaSTDs: Genital herpes,Gonorrhea,Syphilis
27 Can birth defects be prevented? The potential causes of most birth defects are not knownThere are steps a woman can take to reduce the risk of having a baby with a birth defect
29 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 problemsWhen pregnant take daily prenatal vitamins containing 400 mg of the B-vitamin folic acidAvoid alcohol, drugs, smoking, prescription or over-the-counter medication unless prescribed by a health care provider
30 How can some birth defects be diagnosed before birth How can some birth defects be diagnosed before birth? Ultrasound Amniocentsis Chorionic villus sampling
31 How can some birth defects be treated before birth?
32 Preventing Birth Defects Avoid…Take daily multi-vitamins containing 400mg of the B-vitamin folic acid.
33 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?