Omphalocele .

•Developmental Process: During weeks 6

to 8 of intrauterine life, fetal abdominal
contents, which grow faster than the fetal
abdomen, are pushed out into the base of the
umbilical cord. Normally, by 7 to 10 weeks,
the intestine returns to the abdomen, but in
cases of omphalocele, this process fails.
•Associated Conditions: In 67% of cases,
omphalocele is associated with other
•Definition: Omphalocele refers to a congenital disorders such as cardiac
herniation of abdominal contents through the neurologic, genitourinary, skeletal, and
abdominal wall at the junction of the chromosomal abnormalities.
umbilical cord and abdomen.
•Organs Involved: Typically, the intestines Gastroschisis .
are herniated, but the stomach and liver may
also be involved.
•Incidence: Occurs in approximately one
out of 5,000 live births.
• Presentation: The herniated organs are
usually covered by a thin transparent layer
of amnion and chorion, with the umbilical
cord protruding from the exposed sac.

•Definition: Gastroschisis refers to a

condition similar to omphalocele, where
there is a full-thickness defect in the
anterior abdominal wall of the fetus,
resulting in the extrusion of abdominal
viscera, usually intestines, into the amniotic
space without membrane coverage.
• Location and Characteristics: Unlike
omphalocele, the abdominal wall disorder in
gastroschisis occurs at a distance from the
umbilicus, typically to the right, and the
abdominal organs spill freely from the
abdominal wall.
•Incidence: The incidence of gastroschisis
is about four to five per 10,000 live births.

• Complications: There is an increased risk

of complications such as volvulus and
obstruction due to a greater amount of
intestinal contents herniating.
• Survival Rate: Survival in gastroschisis is
generally high, with well over 90% of
affected infants surviving. However, a
subset may experience significant morbidity,
often due to the severity of bowel injury
present at birth.
• Long-term Effects: Children with
gastroschisis may experience decreased Meconium Plug Syndrome
bowel motility and may have difficulty
with nutrient absorption and stool
passage even after surgical correction.
Long-term follow-up may be necessary to
ensure adequate nutrition and elimination.

• Definition: Meconium plug syndrome

(MPS) involves an extremely hard portion of
meconium that completely blocks the
intestinal lumen, leading to bowel
obstruction.

• Etiology: The exact cause is unknown but

is believed to
result from normal variations in meconium resolution of the meconium plugs without
consistency. Meconium plugs usually form treatment.
in the lower end of the bowel, where
meconium formed early in intrauterine life Treatment Options:
has the best chance to become dry and • Barium Enema: Contrast or saline barium
obstructive. enema has been used with a
success rate of 97%.
• Presentation: MPS typically presents with • Saline Enema: Administration of a small
symptoms such as abdominal distention, saline enema (about 5 mL) may
emesis (vomiting), and failure to pass induce peristalsis to expel the plug. Tap
meconium within the first 24 to 48 hours of water should never be used due
life. to the risk of water intoxication.
• Acetylcysteine (Mucomyst): Rectal
Assessment of Meconium Plug Syndrome administration of acetylcysteine may
be prescribed to soften stool.
• Delayed Symptoms: Signs of obstruction • Gastrografin: Gastrografin, a highly
such as abdominal distention and osmotic radiographic substance
vomiting may not manifest for at least 24 administered as an enema, can help soften
hours due to the low location of stool and facilitate passage of
the obstruction in the intestinal tract. the plug by pulling fluid into the bowel.
• Identification: Infants with MPS are
typically identified as those who have
not passed meconium within the first 24
hours post-birth.
• Rectal Examination: A gentle rectal
examination may reveal the presence of
hardened stool, although the plug may be
too high up in the bowel to be
palpated.
• Imaging: X-ray or sonogram imaging
may reveal distended air-filled loops of
bowel up to the point of obstruction.
• Barium Enema: A barium enema can not
only reveal the level of obstruction
but may also be therapeutic in loosening the
plug.

Therapeutic Management

• Spontaneous Resolution: A subset of

patients may experience spontaneous
 • a congenital condition characterized by the
absence of nerve cells (ganglion cells) in the
lower part of the large intestine (colon) and
rectum.
• Ganglion cells are essential for the normal
movement of the colon's muscles, which
helps propel stool through the digestive
system.

•Family History Assessment: Assess the

family history of newborns with a
• Hydration Considerations: Ensure the meconium plug for conditions such as cystic
infant is well hydrated before and after any fibrosis, aganglionic megacolon
procedure involving hyperosmotic (Hirschsprung disease), or polygenic
substances to prevent hypovolemia. inherited disorders, as these may require
• Post-procedure Monitoring: After observation.
passing the meconium plug, monitor the • Screening for Other Conditions: Blood
infant for further passage of stool, which samples for hypothyroidism and cystic
should occur at least once daily over the fibrosis screening should be obtained in
next 3 days. Parents should be instructed on newborns with a meconium plug, as part of
the importance of observing for meconium routine metabolic screening prior to
and contacting their healthcare provider if discharge and at 2 weeks of age. Infants
there are few to no bowel movements. born at home should be evaluated by a
• Rectal Biopsy: There is growing evidence pediatric provider soon after discharge if
to suggest that all infants presenting with a these screenings have not been conducted.
meconium plug should undergo a rectal
biopsy to evaluate for Hirschsprung disease. Diaphragmatic Hernia

Hirschsprung Disease

• Definition: A diaphragmatic hernia refers

to a weakness in the musculature of the
diaphragm, allowing abdominal organs such
as the stomach or intestine to protrude • Fetal Surgery: While surgeons have
through the chest wall. attempted fetal surgery to correct or lessen
lung compromise, multiple randomized trials
• Clinical Manifestations: This condition have shown no benefit compared to
can lead to a collapse of the left lung due to postnatal intervention.
displacement of the heart toward the
right side of the chest. .

• Incidence: Diaphragmatic hernias occur in Clinical Signs

approximately one to five per 10,000 live
births, with a slightly higher frequency in • Breath Sounds: Breath sounds are
males and a lower frequency in individuals usually absent on the affected side of the
of Black ethnicity. chest cavity at birth because at least one
lobe of the lungs on that side cannot expand
• Developmental Cause: The defect arises fully.
early in intrauterine life when the chest
and abdominal cavities are initially • Cyanosis and Retractions: The infant
undivided. may present with cyanosis and intercostal or
subcostal retractions.
• Around week 8 of intrauterine growth,
the diaphragm forms and separates these • Sunken Abdomen: The abdomen typically
cavities. appears sunken due to reduced intestinal
filling.
• Incomplete formation of the diaphragm
during this process can lead to herniation of Complications
the intestines through the diaphragm
opening into the chest cavity. • Persistent Pulmonary Hypertension:
There is a potential for developing persistent
Assessment pulmonary hypertension because blood
cannot perfuse readily through the
• Prenatal Detection: Diaphragmatic hernia unexpanded lung. This can lead to right-to-
is often detected in utero by routine left shunting through the foramen ovale in
sonogram screenings. the heart and cause the ductus arteriosus to
• Neonatal Presentation: If not detected remain patent.
prenatally, it becomes apparent at birth when
the newborn experiences extreme difficulty • Cardiac Complications: Persistent
establishing effective respirations. pulmonary hypertension can lead to
• Abdominal Presentation: A scaphoid complications involving the heart, further
(sunken) abdomen, caused by the exacerbating the severity of the condition.
displacement of abdominal contents into the
chest, is a characteristic indication of the Therapeutic Management
disorder.
•Timing of Surgical Repair
•Surgical repair may be considered an •Mortality Rate:
imminent procedure, but it is typically •The mortality rate of children with
delayed until cardiorespiratory status has diaphragmatic hernia is approximately
been stabilized to the extent possible. 40%, often due to associated anomalies of
•Infants are usually transferred to a high- the heart, lung, and intestine, as well as
acuity nursery for further care before prematurity.
surgery.

•Surgical Procedure:
•Surgery involves repair of the diaphragm
and replacement of herniated intestine and
organs back into the abdomen, potentially
requiring both thoracic and abdominal
incisions.
•In cases of large diaphragmatic defects, an
insoluble polymer (Teflon) patch may be
used to reconstruct a better diaphragm
shape.

Complications and Management

•Abdominal Closure: If there is insufficient

room in the abdomen for the intestine to be
returned, the abdominal incision may not
be closed initially. The intestine may be
covered by silicone elastomer (Silastic) and
left to be closed later, similar to
gastroschisis surgery.

• Lung Function:
•If a lung is hypoplastic and non-
functional, it may be removed during
surgery.
•If the lung is developed but deflated, it will
gradually expand and begin to function over
the following week after surgery.
• Chest tubes may not be used in most
cases to avoid increased respiratory work
and overdistention of the compromised lung.