OMPHALOCELE

• A protrusion of abdominal contents through the abdominal wall at

the point of the junction of the umbilical cord and abdomen.
• The herniated organs usually the intestines, but they may include
stomach and liver.
• The herniated organs are covered by the parietal peritoneum.
• After 10 weeks' gestation, the amnion and Wharton jelly also cover
the herniated mass.
 Cause
• An omphalocele is a type of hernia. Hernia means "rupture."
• An omphalocele develops as a baby grows inside the mother's womb.
The muscles in the abdominal wall (umbilical ring) do not close
properly. As a result, the intestine remains outside the abdominal
wall.
• Infants with an omphalocele often have other birth defects. Defects
include genetic problems (chromosomal abnormalities), congenital
diaphragmatic hernia, and heart defects.
 Symptoms
• An omphalocele can be clearly seen. This is because the abdominal
contents stick out (protrude) through the belly button area.
• There are different sizes of omphaloceles. In small ones, only the
intestines remain outside the body. In larger ones, the liver or spleen
may be outside as well.
 Diagnosis
• Prenatal ultrasounds often identify infants with an omphalocele
before birth.
• Otherwise, a physical examination of the infant is enough for your
health care provider to diagnose this condition.
• Testing is usually not necessary.
 Management
• Omphaloceles are repaired with surgery, although not always immediately.
• A sac protects the abdominal contents and allows time for other more
serious problems (such as heart defects) to be dealt with first, if necessary.
• To fix an omphalocele, the sac is covered with a special man-made
material, which is then stitched in place to form what is referred to as a
“silo”. Slowly, as the baby grows over time, the abdominal contents are
pushed into the abdomen.
• When the omphalocele can comfortably fit within the abdominal cavity,
the silo is removed and the abdomen is closed.
• Sometimes the omphalocele is so large that it cannot be placed back inside
the infant's abdomen. The skin around the omphalocele grows and
eventually covers the omphalocele. The abdominal muscles and skin can be
repaired when the child is older for a better cosmetic outcome.
 GASTROSCHISIS
• Gastroschisis is a birth defect of the abdominal (belly) wall. The baby’s
intestines stick outside of the baby’s body, through a hole beside the
belly button. The hole can be small or large and sometimes other
organs, such as the stomach and liver, can also stick outside of the
baby’s body.
• Gastroschisis occurs early during pregnancy when the muscles that
make up the baby’s abdominal wall do not form correctly. A hole
occurs which allows the intestines and other organs to extend outside
of the body, usually to the right side of belly button. Because the
intestines are not covered in a protective sac and are exposed to the
amniotic fluid, the bowel can become irritated, causing it to shorten,
twist, or swell.
 Causes/Risk Factors
• Like many families affected by birth defects, Centers for Disease
Control and Prevention (CDC) wants to find out what causes them.
• Recently, CDC researchers have reported important findings about
some factors that affect the risk of having a baby with gastroschisis:
• Younger age: teenage mothers were more likely to have a baby with
gastroschisis than older mothers, and White teenagers had higher
rates than Black or African-American teenagers.
• Alcohol and tobacco: women who consumed alcohol or were a
smoker were more likely to have a baby with gastroschisis.
 Diagnosis
• Gastroschisis can be diagnosed during pregnancy or after the baby is
born.
• During pregnancy, there are screening tests (prenatal tests) to check
for birth defects and other conditions. Gastroschisis might result in an
abnormal result on a blood or serum screening test or it might be
seen during an ultrasound (which creates pictures of the body).
• Gastroschisis is immediately seen at birth.
 Management
• Soon after the baby is born, surgery will be needed to place the abdominal
organs inside the baby’s body and repair the defect.
• If the gastroschisis defect is small (only some of the intestine is outside of
the belly), it is usually treated with surgery soon after birth to put the
organs back into the belly and close the opening.
• If the gastroschisis defect is large (many organs outside of the belly), the
repair might done slowly, in stages.
• The exposed organs might be covered with a special material and slowly
moved back into the belly. After all of the organs have been put back in the
belly, the opening is closed.
• Babies with gastroschisis often need other treatments as well, including
receiving nutrients through an IV line, antibiotics to prevent infection, and
careful attention to control their body temperature.
 INTESTINAL OBSTRUCTION
• Intestinal obstruction is a partial or complete blockage of the bowel.
• The contents of the intestine cannot pass through it.
• If canalization of the intestine does not occur in utero at some point
in the bowel, an atresia (complete closure) or stenosis (narrowing) of
the fetal bowel can develop.
• The most common site of this occurrence is in the duodenum.
 Causes
Obstruction of the bowel may due to:
• A mechanical cause, which means something is in the way
• Ileus, a condition in which the bowel does not work correctly, but there
is no structural problem causing it
Paralytic ileus, also called pseudo-obstruction, is one of the major causes of
intestinal obstruction in infants and children. Causes of paralytic ileus may
include:
• Bacteria or viruses that cause intestinal infections (gastroenteritis)
• Chemical, electrolyte, or mineral imbalances (such as decreased
potassium levels)
• Complications of abdominal surgery
• Decreased blood supply to the intestines (mesenteric ischemia)
• Infections inside the abdomen, such as appendicitis
• Kidney or lung disease
• Use of certain medicines, especially narcotics
Mechanical causes of intestinal obstruction may include:
• Adhesions or scar tissue that forms after surgery
• Foreign bodies (objects that are swallowed and block the
intestines)
• Gallstones (rare)
• Hernias
• Impacted stool
• Intussusception (telescoping of one segment of bowel into
another)
• Tumors blocking the intestines
• Volvulus (twisted intestine)
 Symptoms
• Abdominal swelling (distention)
• Abdominal fullness, gas
• Abdominal pain and cramping
• Breath odor
• Constipation
• Diarrhea
• Inability to pass gas
• Vomiting
 Diagnosis
• During a physical exam, the health care provider may find bloating,
tenderness, or hernias in the abdomen.
• Tests that show obstruction include:
• Abdominal CT scan
• Abdominal x-ray
• Barium enema
• Upper GI and small bowel series
 Management
• Treatment involves placing a tube through the nose into the stomach
or intestine. This is to help relieve abdominal swelling (distention) and
vomiting.
• Volvulus of the large bowel may be treated by passing a tube into the
rectum.
• Surgery may be needed to relieve the obstruction if the tube does not
relieve the symptoms. It may also be needed if there are signs of
tissue death.
 MECONIUM ILEUS
• Meconium is the first stool (bowel movement) that a newborn has.
• This stool is very thick and sticky.
• Meconium ileus is a bowel obstruction that occurs when the
meconium in baby’s intestine is even thicker and stickier than normal
meconium, creating a blockage in a part of the small intestine called
the ileum.
• Most infants with meconium ileus have a disease called cystic fibrosis.
• Meconium is the material found in the intestine in a newborn.
• It consists of succus entericus that is made up of bile salts, bile acids,
and debris that is shed from the intestinal mucosa during intrauterine
life.
• It is normally evacuated within 6 hours after birth or sooner in utero
as a result of a vagal response to perinatal stress.
• Normally, meconium is invisible on a radiograph. It occasionally has a
mottled appearance on abdominal radiographs during the first 2 days
of life. By convention, 4 GI conditions have the term meconium in
their name: meconium ileus, meconium ileus–equivalent syndrome,
meconium peritonitis, and meconium plug syndrome.
• Meconium ileus
In meconium ileus, low or distal intestinal obstruction results from the impaction of thick, tenacious
meconium in the distal small bowel. In addition, complications such as ileal atresia or stenosis, ileal
perforation, meconium peritonitis, and volvulus with or without pseudocyst formation can occur in association
with meconium ileus
• Meconium peritonitis
Meconium peritonitis may be incidentally detected on abdominal radiographs. Clinically, patients may
present because of bowel obstruction caused by fibroadhesive bands, which are the result of the inflammatory
peritoneal reaction. The bowel itself may be intact, with the perforation having healed, but bowel atresias are
often found in association. If the processus vaginalis is patent at the time the perforation occurs, calcification
or hernias may involve the scrotum. Ascites may also be present.
• Meconium ileus–equivalent syndrome
The condition is important, as it can be the presenting feature of cystic fibrosis in childhood and even
in early adult life. Moreover, the operative mortality and morbidity rates are high. Recurrent bowel obstruction
(which is often correlated with poor compliance with medication for cystic fibrosis) may manifest as recurrent
colicky abdominal pain, often in the right upper quadrant. In the older infant or child, chronic constipation can
be a problem, and intestinal obstruction can occur secondary to fecal impaction. These patients may also
present with intussusceptions.
• Meconium plug syndrome
Functional colonic obstruction in the full-term neonate is another name for meconium plug
syndrome. Although this abnormality is found mostly in term infants, Mees et al reported that 3 of their 4
patients were premature. Most infants with this form of colonic obstruction present within their first 24-36
hours of life. Findings include abdominal distention, bilious vomiting, and failure to initiate the normal passage
of meconium
 Diagnosis
• The earliest signs of meconium ileus are abdominal distention (a
swollen belly), bilious (green) vomit and no passage of meconium.
• The doctor will order an X-ray of abdomen to find out if there is
meconium in the intestines.
 Management
• If a doctor suspects that the child has a meconium ileus, the child
won't be given anything to eat or drink and will be fed through an
intravenous (IV) line, a small tube that's inserted into a vein.
• A small tube — called a nasogastric (NG) tube — will also be placed
through the child's nose and passed into the stomach to help remove
excess air and fluid.
• The medical team may try to break up the meconium blockage with
medicines given to the child through an enema. If the medicine
doesn't break up the meconium, there is a need for surgery.
• If the baby needs surgery for meconium ileus, the baby have a bowel
resection and ileostomy placement.
• Bowel resection surgery
• The child may need a bowel resection, a surgical procedure that
brings part of the small intestine out to the surface of the abdominal
wall. This creates an ileostomy, which is temporary. The bowel can be
reconnected once the child's ileus is gone.
 DIAPHRAGMATIC HERNIA
• A protrusion of an abdominal organ (usually the stomach or intestine)
through a defect in the diaphragm into the chest cavity.
• This usually occurs on the left side, causing cardiac displacement of
the chest and collapse of the left lung.
• A diaphragmatic hernia is a birth defect in which there is an abnormal
opening in the diaphragm. The diaphragm is the muscle between the
chest and abdomen that helps you breathe.
• The opening allows part of the organs from the belly (stomach,
spleen, liver, and intestines) to go up into the chest cavity near the
lungs.
 Causes
• A diaphragmatic hernia is a rare defect that occurs while the baby is
developing in the womb.
• The abdominal organs, such as the stomach, small intestine, spleen,
part of the liver, and the kidney, may take up part of the chest cavity.
This prevents the lung from growing normally.
• It is more common on the left side. Having a parent or sibling with the
condition slightly increases your risk.
 Symptoms
• Severe breathing problems almost always develop shortly after the
baby is born. This is due in to poor movement of the diaphragm
muscle crowding of the lung tissue. This causes the lung to collapse.
• Other symptoms include:
• Bluish colored skin due to lack of oxygen
• Rapid breathing (tachypnea)
• Fast heart rate (tachycardia)
 Diagnosis
• The pregnant mother may have a large amount of amniotic fluid.
Fetal ultrasound may show abdominal organs in the chest cavity.
• An exam of the infant shows:
• Irregular chest movements
• Lack of breath sounds on side with the hernia
• Bowel sounds that are heard in the chest
• Abdomen that feels less full when touched
• A chest x-ray may show abdominal organs in chest cavity
 Management
• A diaphragmatic hernia repair is an emergency that requires surgery.
Surgery is done to place the abdominal organs into the proper
position and repair the opening in the diaphragm.
• The infant will need breathing support during the recovery period.
Some infants are placed on a heart/lung bypass machine. This gives
the lungs a chance to recover and expand after surgery.
• If a diaphragmatic hernia is diagnosed during pregnancy (around 24
to 28 weeks), fetal surgery may be an option.
 UMBILICAL HERNIA
• An umbilical hernia is an outward bulging (protrusion) of the
lining of the abdomen or part of the abdominal
organ(s) through the area around the belly button.
 Causes
• An umbilical hernia in an infant occurs when the muscle
through which the umbilical cord passes does not close
completely after birth.
• Umbilical hernias are common in infants. They occur slightly
more often in African Americans.
• Most umbilical hernias are not related to disease. Some
umbilical hernias are linked with rare conditions such as
Down syndrome.
 Symptoms
• A hernia can vary in width from less than 1 centimeter to more than 5
centimeters.
• There is a soft swelling over the belly button that often bulges when
the baby sits up, cries, or strains.
• The bulge may be flat when the infant lies on the back and is quiet.
• Umbilical hernias are usually painless.
 Diagnosis
• A hernia is usually found by the doctor during a physical
exam.
 Management
• Most hernias in children heal on their own. Surgery to repair
the hernia is needed only in the following cases:
• The hernia does not heal after the child is 3 or 4 years old.
• The intestine or other tissue bulges out and loses its blood
supply (becomes strangulated).
• This is an emergency that needs surgery right away.
 IMPERFORATE ANUS
• Imperforate anus is a defect that is present from birth
(congenital).
• The opening to the anus is missing or blocked.
• The anus is the opening to the rectum through which stools
leave the body.
 Causes
• Imperforate anus may occur in several forms.
• The rectum may end in a pouch that does not connect with the colon.
• The rectum may have openings to other structures. These may
include the urethra, bladder, base of the penis or scrotum in boys, or
vagina in girls.
• There may be narrowing (stenosis) of the anus or no anus.
• The problem rare. It is caused by abnormal development of the fetus.
Many forms of imperforate anus occur with other birth defects.
 Symptoms
• Anal opening very near the vagina opening in girls
• Baby does not pass first stool within 24 - 48 hours after birth
• Missing or moved opening to the anus
• Stool passes out of the vagina, base of penis, scrotum, or urethra
• Swollen belly area
 Diagnosis
• A doctor can diagnose this condition during a physical exam.
Imaging tests may be recommended.
 Management
• The infant should be checked for other problems, such as
abnormalities of the genitals, urinary tract, and spine.
• Surgery to correct the defect is needed.
• If the rectum connects with other organs, these organs will
also need to be repaired.
• A temporary colostomy (connecting the end of the large
intestine to the abdomen wall so that stool can be collected
in a bag) is often needed.