Beruflich Dokumente
Kultur Dokumente
BEGINNING and END OF LIFE
V. Pediatric Issues
• I. Different Congenital Anomalies
• 1. Intrauterine Screening - Karen
• 2. After birth Screening - Ten
• 3. Congenital and Genetic Anomalies - Riza
• 4. Treatment - Ivan
•
• II. Proxy Consent - Chub
• III. Neonatal Issues
• 1. Ethical Issues - Kunny
• 2. Social Issues - Michee
• IV. Principles Involved - Alvin
• V. Case Presentation - ALL.. we need to talk about
it, whats our final plan?
Genetic and Congenital
Impairments
2 Kinds of Errors
• Genetic errors
– Occurrence of mutation in the coding of DNA
or presence of inherited defective gene
• Congenital errors
– Errors that result during the developmental
process
– Impairment is not in the original blueprint but
maybe from genetic damage or imcorrect
reading of the blueprint
Factors affecting fetal development
• Radiation (x-rays)
• Drugs (thalidomide)
• Chemicals (mercury)
• Nutritional deficiencies
• Biological diseases (viruses or
spirochetes)
Genetic and Congenital Errors
• Genetic impairments are inherited
• Congenital impairments are not inherited
and cannot be passed on
• Some genetic diseases can be diagnosed
before birth
Diagnosing before birth
• Blood test for presence of alphafetoprotein
can indicate likelihood of neural tube
defects characteristic of spina bifida
• Ultrasound can be used to confirm or
detect developmental abnormalities
• Amniocentesis, procedure for drawing fluid
from uterus and cells from developing
embryo are examined for genetic
abnormalities.
Down Syndrome
• Genetic disease identified in 1886 by
english physician J.L.H. Down
• Results from the presence an additional
chromosome from the 23-pairs
• Also called Trisomy-21 because instead of
the 21st pair of chromosome, the affected
person has a 21st triple.
Effects of Down Syndrome
• Child is born with retardation and various
physical abnormalities (broad skull, large
tongue and upward slant of eyelids)
• Upward slant of eyelids led to the name
“mongolism”
• There is no cure for down syndrome, no
way to compensate for the abnormality in
the development
Occurrence of Down Syndrome
• Occurs in 1 of every 1000 births
• Occurs most frequently in woman over the
age of 35
• In 1984 researchers discovered an extra
copy of a segment known as “nucleolar
organizing region”
• Families in which either parent has the
abnormality are 20 times more likely to
have an affected child
Down Syndrome affected
characteristics
• Usually carries a 50-80 IQ
• Usually requires the care and help of
others
• Can be taught easy tasks
• Usually seem to be happy people
Spina Bifida
• General name for birth defects that involves an
opening in the spine
• Spine of the child fails to fuse properly and often
the open vertebrae permit the membrane
covering the spinal cord to protrude to the
outside
• Membrane forms a bulging, thin sac that
contains spinal fluid and nerve tissue
• When nerve tissue is present, condition is called
“myelomeningocele”, a severe form of spina
bifida
Treatment of Spina Bifida
• Spina bifida must often be treated
surgically
• Opening in the spine must be closed up
• Sac is removed and nerve tissue inside is
placed within the spinal canal
• Normal skin is grafted over the area
• Danger of infection of the meninges
(meningitis) is great, thus antibiotics is
also necessary
Treatment of Spina Bifida
• Child is also likely to require orthopedic
operations to attempt to correct the
deformities of the legs and feet because of
muscle weakness and lack of muscular
control due to nerve damage
• Bones of such children are thin and brittle,
fractures are frequent
Effects of Spina Bifida
• Child is virtually paralyzed to some extent,
usually below waist
• Because of nerve damage, child will have limited
sensation in the lower part of the body
• No control over his bladder of bowels
• Lack of bladder control may result in infection of
the bladder, urinary tract, and kidneys, because
undischarged urine may serve as breeding place
for microorganisms
Occurrence of Spina Bifida
• Occurs between one and ten per 1000 births
• Rate in white families of low socio-economic
status is 3 times higher than that in families of
higher socio-economic status
• Rate in black population is less than half of that
in the white population
• Women taking multivitamins during pregnancy
ran less than half the risk of having an affected
child
• Spina bifida is almost always accompanied by
hydrocephaly
Hydrocephaly
• Literally means “water on the brain”
• When the flow of fluid through the spinal canal is
blocked, the cerebrospinal fluid produced within
the brain cannot escape
• Pressure buildup from the fluid can cause brain
damage, and when not released, the child will
die
• It is frequently a result of spina bifida, it may also
have several other causes and can develop late
in a child’s life
Treatment of Hydrocephaly
• Treatment requires surgically inserting a
thin tube, or shunt, to drain the fluid from
the skull to the heart or abdomen where it
can be absorbed.
• Operation can save the baby’s life but
physical and mental damage is frequent
• If hydrocephaly comes with spina bifida, it
is always treated first
Anencephaly
• Literally means “without brain”
• Defect is related to spina bifida, for in some
forms the bones of the skull are not completely
formed and leave an opening through which
brain material bulges to the outside
• Death is a virtual certainty
• Individuals is so severely retarded that he has
minimum control over bodily movements
• No hope for improvement by any known means
Esophageal Atresia
• Atresia is the closing of a normal opening
or canal
• Esophagus is the muscular tube that
extends from the back of the throat to the
stomach
• Sometimes the tube forms without an
opening, or it does not completely develop
so that it does not extend to the stomach
Treating Esophageal Atresia
• Surgery is needed to correct the condition
• Chances of success in such surgery is
very high
Duodenal Atresia
• Duodenum is the upper part of the small
intestine
• Food from the stomach empties into it
• When the duodenum is closed off, food
cannot pass through and be digested
• Surgery can repair this condition and is
successful in most cases
Occurrence of all defects
• Estimated 6% of all live births, some 200,000
infants a year require intensive neonatal care
• Afflictions presented here are those that are
most often the source of major moral problems
• Those correctable by standard surgical
procedures present no special moral difficulties
but when paired with other impairments such as
Down Syndrome, they become important factors
in moral deliberations