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Gastroschisis - What is Gastroschisis?

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.

Further Reading


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