Birth
Defects
Birth Defect
◼ A birth defect is an abnormality in
the body structure or chemistry of a
newborn child.
◼ Hereditary factors, i.e., genetic
causes
◼ Environmental influences that affect
the embryo or fetus in the mother's
womb
◼ A combination of factors
◼ Often, the cause of a birth defect is
unknown
Birth Defect
◼ Congenital anomalies
◼ Congenital means present at birth
◼ Anomalies are abnormalities or
irregularities
Birth Defect
◼ An abnormality present at birth
usually is not considered a birth
defect unless it results in a disease
or in a physical or mental disability
◼ For example, birthmarks are seldom
considered birth defects because
they usually do not cause health
problems
Birth Defect
◼ 3 to 5 percent of babies born in the
United States have some type of
birth defect.
◼ Cleft palate, occur infrequently
◼ Congenital heart defects, are more
common
◼ Sickle-cell anemia, an inherited blood
disease, occurs mainly in people of
African ancestry
Cleft Lip/Cleft Palate
◼ Appears at 18th to
20th week during
pregnancy
◼ Multi-factorial
◼ Two sides of lip
and/or pallet not
joined (partial or
total failure)
◼ Surgery
Clubfoot
◼ Talipes
Equinovarus
◼ Multi-factorial
◼ At 9th month of
pregnancy, failure
of separation
occurs in the tarsal
bones of the foot
Clubfoot
◼ Twice as many
males as females
◼ Foot and ankle
twisted, making it
impossible to walk
normally
◼ Surgery
Down’s Syndrome
◼ Common if baby has
young or old parents
◼ Trisomy 21
◼ 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
◼ Affected if mom drank
alcohol while pregnant
◼ Neuron damage and
cell loss in the fetal
brain due to alcohol
◼ Mental retardation,
facial abnormalities,
deformed limbs
◼ Special assistance
Muscular Dystrophy
◼ Appears in childhood
and adulthood
◼ Multi-factorial, sex –
linked
◼ Weakening of
muscles. Inability to
walk, move, wasting
away and sometimes
death
◼ No treatment
Phenylketonuria
◼ Affects anyone
◼ Appears at birth
◼ Recessive disorder
◼ Abnormal digestion
of protein, mental
retardation,
hyperactivity
◼ Good diet
Spina Bifida
◼ 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
Cerebral Palsy
◼ Prenatal damage
◼ Damage of one or
more parts of the
brain that control
movement
◼ Lack of control of
movement and
posture
◼ Special medication,
physical therapy
Sickle Cell Anemia
◼ Affects primarily
Africans
◼ Recessive blood
disorder
◼ Sickle-shaped RBCs
◼ RBCs die faster (~10
to 20 days) - anemia
◼ 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
Environmental factors may
cause birth defects
Long-term Effect of
Meth Chemicals
◼ Change in genetic
code
◼ Down line birth
defects
◼ Agents causing
fetal deaths
◼ Reproduction
toxins
◼ Long term
carcinogens
Diagnosing Birth Defects
◼ Amniocentesis a small sample of fluid
surrounding the fetus is removed
through a needle and examined
◼ Physical examination of a newborn
◼ X-rays, may be ordered if doctors
suspect a birth defect
◼ Blood tests can detect certain
disorders of the blood or body
chemistry
◼ Many infants with defects can
develop normally if they receive
prompt treatment
Preventing Birth Defects
◼ Eat well during pregnancy
◼ Avoid marrying close relatives (incest)
◼ Consider not having children after age 35
or 40
◼ Avoid all medicines during pregnancy
◼ Avoid contact with pesticides and other
poisons
◼ Avoid tobacco and alcohol
◼ While pregnant, stay away from children
with German measles (deafness,
blindness, and heart defects in newborn)
Bibliography
◼ http://gtresearchnews.gatech.edu/newsrelease/pku.h
tm
◼ http--www_sequoyahcountysheriff_org-
what%20meth%20does%20to%20you_jpgMeth
◼ http://www.ich.ucl.ac.uk/gosh/clinicalservices/Cleft_l
ip_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
Birth
Defects
