Gastroschisis (also called paraomphalocele, laparoschisis, abdominoschisis, or abdominal hernia) is a type of inherited congenital abdominal wall defect in which the intestines and sometimes other organs develop outside the fetal abdomen through an opening in the abdominal wall.
It is believed that this defect is the result of obstruction of the omphalomesenteric vessels during development. It is often detected through AFP screening or a detailed fetal ultrasound.
Omphalocele is a similar birth defect, but it involves the umbilical cord, and the organs remain enclosed in visceral peritoneum.
Gastroschisis as a stand-alone congenital defect is usually
inherited in an autosomal recessive manner. It may begin as a sporadic
mutation, can be associated with non-genetic congenital disorders, but
has also been observed to be autosomal dominant.
Genetic counseling and further genetic testing, such as
amniocentesis, may be offered during the pregnancy, as this and other
abdominal wall defects are associated with genetic disorders. If there
are no additional genetic problems or birth defects, surgery soon after
birth can often repair the opening.
Gastroschisis is slightly more frequent in males than
females. The frequency of gastroschisis is associated with young
maternal age, and low number of gestations. This abnormality is seen in
ratio of 1:10,000 and is usually detected before birth.
It has been reported that the incidence of gastroschisis has
increased in recent years.
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