TOPIC:  ISSUES BWETWEEN THE 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