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Birth Defects is: � Abnormality that affects the structure or function of the body
Classifica1ons of Birth Defects � Recessive inheritance � Dominant inheritance � Multi-‐factorial inheritance � Chromosomal Error � Congenital Malformation � Blood Disorder � Prenatal Damage � Metabolic disorder � X-‐linked (sex-‐linked)
Causes of Birth Defects CAUSES
Heredity 20% Environment 20% Combination 60%
Factors that contribute to Birth Defects:
� Mother is Overweight � Mother is Underweight � Last birth was less than
12 month ago � Has had a baby that weighed less than 3 ½
pounds � Has had 3 or more miscarriages � Has had more than 5 pregnancies
More Factors � Has had a still born baby � Drinks alcohol � Uses prescription drugs � Has used street drugs � Drinks high amounts of caffeine � Has had exposure to chemicals � Constant exposure to cats � Has had x-‐rays during pregnancy � If mother is over the age of 35
Most sensi1ve 1me during pregnancy for birth defects to occur? � FIRST 6 WEEKS– because that is when the basic fetal framework is built and mother rarely knows she is pregnant.
Can birth defects be diagnosed before birth?
� Some prenatal tests that can be taken are:
� Ultrasound � Amniocentesis � Chronic villus sampling
PRENATAL TESTS
� ULTRASOUND � Sound waves are
used to make a video image of fetus
AMNIOCENTESIS
� Amniotic fluid is withdrawn do that DNA in amniotic fluid can be tested
CHORIONIC VILLUS SAMPLING
• Samples of tissues surrounding fetus are tested
What can be done to help prevent birth defects? � Early and regular prenatal care � Vaccines � RH vaccine during and after pregnancy � Take Folic Acid and Prenatal Vitamins � Avoid dangerous environmental factors
� Drugs � Alcohol � Chemicals � Etc.
Preventing Birth Defects n Eat well during pregnancy n Avoid marrying close relatives n Consider not having children after age 35 or 40 n Avoid all medicines during pregnancy n Avoid contact with pesticides and other poisons n Avoid tobacco and alcohol n While pregnant, stay away from children with German measles
KING PARABLE
TERMS � Syndrome: several signs and symptoms appear together
� Congenital malformation: problem is passed the genes and is evident at birth
� Multifactorial defect: problem may be caused by variety of factors
� Chromosomal error: chromosome is shaped wrong or there are too many or too few
� Each person should have 46 chromosomes (23 pairs)
Cleft Lip/Cleft Palate � Can affect anyone � Appears at birth � Congenital
malformation – Multi-factorial
� Two sides of lip and/or pallet not joined
� Treatment - surgery
Clubfoot � Affects anyone � Appears at birth � Congenital
malformation – Multi-factorial
� Foot and ankle twisted, making it impossible to walk normally
� Treatment - surgery
Color Blindness
� Males – uncommon in females.
� Present at birth but often not detected until long after birth
Color Blindness
Color Blindness � Sex linked defect. Female is
carrier but defect appears in male.
� Red/green or blue/yellow deficiency. Have to cope with not being able to see those colors e.g. traffic lights
� No treatment – lens in one eye
Cystic Fibrosis � It's more common among
those of Northern or Central European descent.
� Present at birth but usually diagnosed by age 2
� Caused by recessive gene
� Disease that causes thick, sticky mucus to build up in the lungs, digestive tract, and other areas of the body
� Antibiotics, inhalers, special exercises, special diet
� Life expectancy – 45 years
Down’s Syndrome � Common if baby has
young or old parents � Appears at birth � Chromosomal error � Effects – Some form of
mental retardation, oval shaped eyes, thick big tongue, short neck, back of head is flat, small ears, common heart problems
� Surgery, special assistance
Fetal Alcohol Syndrome n Affected if mom drank alcohol while pregnant
n Appears at birth n Prenatal n Some form of mental retardation, facial abnormalities, deformed limbs
n Special assistance
Muscular Dystrophy � Affects – anyone � Appears in childhood
and adulthood � Multi-factorial, sex –
linked � Weakening of muscles.
Inability to walk, move, wasting away and sometimes death
� No treatment
PKU - Phenylketonuria � Affects anyone � Appears at birth � Recessive disorder � Abnormal digestion
of protein, mental retardation, hyperactivity
� Preventable diet
� .
Children inherit PKU from two parents who carry the recessive gene. Children effected Those with PKU are missing a enzyme called phenylalanine that breaks down the essential amino acid phenylalanine. PKU increases the amount of phenylalanine in the blood. This is harmful to the central nervous system
� 1 out of 10,000 to 15,000 babies are affected in the U.S
� PKU can be prevented. Woman planning to get pregnant should be tested to see if they carry the PKU gene.
� Mothers with PKU should follow a strict diet.
Polydactyly � A condition in which a
person has more than five fingers per hand or five toes per foot.
� You can see the extra digit before the child is born by using an ultrasound otherwise it manifests itself at birth
�
Polydactyly � Polydactyly is
inherited…. BUT….African Americans, are more likely to inherit Polydactyly.
� The extra digit often
has no bone and is usually surgically removed.
Sickle Cell Anemia � Affects primarily blacks � Appears at birth � Recessive disorder,
blood disorder � Abnormal blood cells,
bout of pain, heart and kidney failure, less oxygen to all parts of the body. Death in childhood. Damage to adult vital organs.
� Blood transfusions
Spina Bifida � Affects anyone � Appears at birth � Multi-factorial, Prenatal damage � Varying degrees from slight cyst
to open spine (sores, infertile, legs paralyzed, poor bladder and bowel control, death)
� Surgery and physical therapy
Preventing Birth Defects n Eat well during pregnancy n Avoid marrying close relatives n Consider not having children after age 35 or 40 n Avoid all medicines during pregnancy n Avoid contact with pesticides and other poisons n Avoid tobacco and alcohol n While pregnant, stay away from children with German measles
Bibliography � http://gtresearchnews.gatech.edu/newsrelease/
pku.htm � http--www_sequoyahcountysheriff_org-what
%20meth%20does%20to%20you_jpgMeth � http://www.ich.ucl.ac.uk/gosh/clinicalservices/
Cleft_lip_and_palate/InformationforFamilies/ � pediatrics.about. www.state.nj.us/.../familyguide/
questions.shtml com/.../bl_club_foot.htm � www.csulb.edu/~kmacd/361-6-Ch2.htm � www.healthyjunkie.com/articlelist.asp?vt=SubC... � www.marquettetribune.org/home/index.cfm?event... � www.thecamreport.com/?cat=59 � www.state.nj.us/.../familyguide/questions.shtml