Explanation of Medical Terms
The fluid within the amniotic cavity in which the fetus "floats."
Some believe that the amniotic fluid contains substances that
may be harmful to exposed bowel loops in gastroschisis, and could
be partially responsible for the "peel" seen in some
The space within the uterus in which the fetus resides, bound
by the amniotic membrane
Atresia: An absent portion of an organ. Intestinal
atresia (ileal or jejunal atresia) refers to a missing portion
of small bowel, a known complication of gastroschisis. If present,
this will require an operation, to reconnect the two ends of
syndrome: An anomaly that
includes omphalocele, enlargement of some of the organs (often
the pancreas), a large tongue and various degrees of gigantism
(large baby). These children have a risk of developing some childhood
tumors, such as Wilms tumor and hepatoblastoma.
exstrophy: A complex anomaly
of the abdominal wall, the intestinal tract and the pelvic organs.
Infants with cloacal exstrophy have a short intestine, an absent
anus, a large defect of the abdominal wall (omphalocele) and
the bladder (which is exposed and lacks a front wall), and anomalies
of the pelvic bone and genitalia. This is not the same as a bladder
exstrophy (defect of the bladder, with or without anomaly of
the penis in boys), which is a less severe condition.
Diaphragm: A large muscular sheath that separates
the chest from the abdomen. Anomalies of the diaphragm include
diaphragmatic hernia, a congenital defect in that muscle. The
most common form is a posterolateral hernia, or Bochdalek type
(whereby the hole is mostly on the side and in the back of the
diaphragm, causing intestines to move into the chest). The anterior
form, or Morgagni, is a defect behind the sternum (breast bone);
this is the one most commonly associated with omphaloceles, as
part of the Pentalogy of Cantrell.
refers to a defect (hole) in the abdominal wall of the fetus
or newborn, through which intestines or other abdominal organs
can protrude. In gastroschisis, the hole is to the (patient's)
left of the belly button.
Abdominal wall defect in the fetus, located in the umbilicus.
Often, a membrane covers the exteriorized intestines. "Giant"
omphaloceles contain not only intestines, but liver as well.
If only a very small defect is present, this is often referred
to as "hernia of the umbilical cord." Omphaloceles
are to be differentiated from gastroschisis, where the defect
is to the side (usually left) of the belly button. Omphaloceles
are often associated with other anomalies, including congenital
heart defects. Omphalocele can also be part of a syndrome, such
as Beckwith-Wiedemann syndrome, pentalogy of Cantrell and cloacal
Peel: The thick layer of scar often seen
in exposed bowel loops in gastroschisis.
of Cantrell: A rare syndrome
that includes five anomalies: an omphalocele, a diaphragmatic
hernia (hole in the diaphragm), a heart defect, a defect of the
pericardium (the membrane that envelops the heart), and a defect
the sternum (breast bone), which in very severe cases can cause
the heart to protrude out of the chest.
Silo: A silicone plastic ("silastic")
sterile bag or membrane that can be placed over the exposed bowel
loops in gastroschisis, to prevent dehydration and further damage
to them. It is used for temporary cover if the intestines can
not immediately be replaced in the amniotic cavity.
Parenteral Nutrition (TPN):
Basic nutritients (carbohydrates, essential fats, proteins, vitamins
and trace elements) given intravenously (through a vein), usually
via a central venous catheter, that provide enough calories for
a patient to survive and grow without any feeding by mouth.
This life-saving technique allows a baby with gastroschisis to
recieve enough nutrition until he can feed normally (often 3-4
Trisomy: The presence of an extra chromosome
(normally, humans have 2 sets of 23 chromosomes, or 46 chromosomes,
in each cell; individuals with a trisomy have an extra copy of
one chromosome per cell). The most common trisomy syndromes are
trisomy 21 (Down syndrome), trisomy 13 and trisomy 18. The latter
two are sometimes associated with an omphalocele.