Tracheoesophageal
Atresia and Fistula
 Between weeks 4 & 8 of intrauterine life, the
groove develops into larynx, trachea and
beginning lung tissue.
 A number of anomalies may occur if trachea
and esophagus are affected by some teratogen
that does not allow the two organs to separate
but remain connected
 If a radiopaque catheter is used, it can be
demonstrated coiled in the blind end of the
esophagus on x ray
 A newborn who has so much mucus in the
mouth that he or she appears to be blowing
bubbles
 The condition can be diagnosed with certainty if
a catheter cannot be passed through the
esophagus to the stomach or the stomach
contents cannot be aspirated
 Use of a firm catheter is necessary because a
soft one will curl in a blind end esophagus and
appear to have passed
Therapeutic Management
 Emergency surgery for the infant with
tracheoesophageal fistula is essential to prevent
the development of pneumonia from leakage
of stomach secretions into thE lungs or
dehydration or an electrolyte imbalance from
lack of oral intake
 Antibiotics may be prescribed to help prevent
infection
Omphalocele
 Is a protrusion of abdominal contents through
the abdominal wall at the point of junction of the
umbilical cord and abdomen
 The herniated organs are usually the intestines,
but they may include stomach and liver
 They are usually covered and contained by a
thin transparent layer of peritoneum
 This condition occurs because at
approximately weeks 6 to 8 of intrauterine
life, the fetal abdominal contents, growing faster
than the fetal abdomen, are extruded from the
abdomen into the base of the umbilical cord
 At 7 to 10 weeks, when the abdomen has
enlarged sufficiently, the intestine returns to
the abdomen
 Omphalocele occurs when the abdominal
contents fail to return in the usual way
Therapeutic Management
 Most infants will have immediate surgery to
replace the bowel before the this peritoneal
membrane surrounding is ruptures or becomes
infected
 If the Omphalocele large, infants may be
prescribed a topical application of a solution
such as Silver Sulfadiazine to prevent infection
of the sac, followed by delayed surgical closure
Before Surgery
 It is important that the lining of the peritoneum
covering the Omphalocele not be ruptured or
allowed to dry out and crack
 Exposure of intestine to air also causes a rapid
loss of body heat
 Therefore immediately place the baby in a
warmed incubator
 Do not leave infants under a radiant heat source
because this will quickly dry the exposed bowel
Assessment
 It may be revealed by an elevated MSAFP
examination during pregnancy
 If not, the presence of Omphalocele is obvious
on inspection at birth
 When it is identified in utero, Cesarean birth may
be performed to protect the exposed intestine
 Be sure to document the Omphalocele general
appearance and its size in centimeters at
birth
 To keep the sac moist, cover it with either sterile
saline-soaked gauze or a sterile plastic bowel
bag until surgery
 Because of the large amount of exposed
intestinal surface, the saline used must be at
body temperature to prevent lowering body
temperature
 A nasogastric tube is inserted at birth to prevent
intestinal distention, which would enlarge the
bowel lumen, making it even more difficult to
replace
 Don't feed the infant orally or allow him or her
to suck on a pacifier until the bowel repair is
complete
 Observe infants carefully for signs of
obstruction (abdominal distention,
 constipation, diarrhea or vomiting)when they
begin oral feedings
GASTROSCHISIS
 Is a condition similar to Omphalocele, except
that the abdominal wall disorder is a distance
from the umbilicus and abdominal organs
are not contained by peritoneal membrane
but rather spill freely from the abdomen
 Also, a greater amount of intestinal contents
tends to herniate, increasing the potential for
Volvulus and obstruction
 The surgical procedure is the same as that for
Omphalocele
 Children with Gastric (soften have decreased
bowel mobility, and even after surgical correction
they may have difficulty with absorption of
nutrients and passage of stool
DOWN SYNDROME
 The most common chromosomal abnormality
 Seen as frequently as 1 in 800 livebirths
 Most frequently in the pregnancies of women
who are over 35 years of age. The incidence is
high I in 100 live births

  Paternal age (over 55) may also contribute to
the increased incidence
Down syndrome
- is a genetic disorder caused when abnormal
cell division results in an extra full or partial
copy of chromosome 21. This extra genetic
material causes the developmental changes and
physical features of Down syndrome.
Causes:
 Human cells normally contain 23 pairs of
chromosomes. One chromosome in each pair
comes from your father, the other from your
mother.
 Down syndrome results when abnormal cell
division involving chromosome 21 occurs.
These cell division abnormalities result in an
extra partial or full chromosome 21.
 This extra genetic material is responsible for the
characteristic features and developmental
problems of Down syndrome.
 Any one of three genetic variations can cause
Down syndrome:
 Down syndrome varies in severity among
individuals, causing lifelong intellectual disability
and developmental delays.
 It's the most common genetic chromosomal
disorder and cause of learning disabilities in
children.
 It also commonly causes other medical
abnormalities, including heart and
gastrointestinal disorders.
 Infants with Down syndrome may be average
size, but typically they grow slowly and remain
shorter than other children the same age.
Symptoms:
 Each person with Down syndrome is an
individual — intellectual and developmental
problems may be mild, moderate or severe.
Some people are healthy while others have
significant health problems such as serious heart
defects.
NOTE:
 Most of the time, Down syndrome isn't
inherited. It's caused by a mistake in cell
division during early development of the fetus.
 Infants with Down syndrome may be average
size, but typically they grow slowly and remain
shorter than other children the same age.
Intellectual disabilities
 Most children with Down syndrome have mild
to moderate cognitive impairment. Language is
delayed, and both short and long-term memory
is affected.
ASSESSMENT FINDINGS:
 The nose is broad and flat
 Eyelids have an extra fold of tissue at the inner
canthus (an fold), and the fissure (opening
between the eyelids)tends to slant laterally
upward
 The iris of the eye may have white specks
called Brushfield's spots
 •Even in the newborn, the tongue may
protrude from the mouth because the oral
cavity is smaller than normal
 The back of the head is flat, the neck is short
and an extra pad of fat at the base of the head
causes the skin to be loose and can be lifted up
(like a puppy's neck)
 The ears may be low-set
 Muscle tone is poor, giving the baby a rag-doll
appearance
 Fingers are short and thick and the little
finger is often curved inward
 There may be a wide space between the first
and second toes and the first and second fingers
 The palm of the hand shows a peculiar
crease (a simian line) or a horizontal palm
crease rather than the normal 3 creases in the
palm
 Have some degree of Cognitive challenge the
degree can range from
that of less involvement (IQ 50 to 70) to one
requiring total care (IQ less than 20)
 Appear to have altered immune function, making
them prone to respiratory infections
COMMON DOWN SYNDROME:
 l-lymphocytic leukemia
 Congenital heart disorders esp. atrioventricular
disorders
Stenosis or atresia of the duodenum
 Strabismus and cataract disorders
 Their lifespan generally is only 50 to
60 years
THERAPEUTIC MANAGEMENT
 Need to be exposed to early educational and
play opportunities
 Sensible precautions such as good
handwashing technique because they are prone
to infection infancy the enlarged tongue may
interfere with swallowing and cause choking
unless the child is fed slowly
 Need physical examination at birth so that
genetic disorder can be detected and counseling
and support for parents and siblings can begin