Gastroschisis: diagnosis and treatment of this rare neonatal disease

By Cristiano Antonino On Jun 14, 2022

Gastroschisis is a rare abdominal wall formation defect disease. It is corrected by surgery in the first few hours of the infant’s life

What is Gastroschisis?

Gastroschisis is a defect in the formation of the abdominal wall that affects about 1 in 10000/20000 live births and results in the muscles and skin of the abdomen not being completely closed and the abdominal organs protruding.

It is usually an isolated defect, but can rarely be associated with intestinal abnormalities (atresia, malrotation).

In over 90% of cases it can be resolved by surgery in the neonatal period.

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Gastroschisis, the diagnosis

Diagnosis is often in the prenatal period and usually occurs between the 1st and 2nd trimester of pregnancy, during first trimester or second trimester screening.

At the ultrasound scan, the abdominal organs, usually the intestines, are visualised emerging from the abdomen of the foetus through a small opening (2-4 cm) to the right of the umbilicus.

The intestine is thus in contact with the amniotic fluid and may show signs of distress over time, such as thickening of the intestinal loops.

This occurs either due to direct contact of the intestinal loops with the amniotic fluid or due to a strangulation of the vessels that irrigate the intestine and are stretched outside the abdomen.

However, it must be emphasised that between the 10th and 12th week of gestational age it may be normal for the intestinal loops to still be outside the abdominal cavity of the foetus, inside the yolk sac, which is a component of the umbilical cord.

Therefore, a diagnosis in this gestational period or earlier must be considered with great caution.

On the other hand, once the diagnosis has been made, it is essential to carry out regular ultrasound checks to keep an eye on it:

Fetal growth, which for reasons related to the herniated intestine may be below normal;

The thickness of the herniated intestinal loops;

The amount of amniotic fluid, which is sometimes excessively low;

The overall well-being of the foetus.

Antenatal diagnosis is fundamental because it makes it possible to follow developments in utero and to guarantee the best care for the newborn, enabling parents to prepare for this experience and to establish a relationship with the medical team even before delivery.

Delivery with a diagnosis of gastroschisis of the unborn child

Childbirth may be vaginal or caesarean and the choice will depend very much on obstetric requirements.

However, it is advisable for the pregnancy to be carried to full term as far as possible and for the birth to take place in a highly specialised centre, ideally the same one where the newborn baby will then be cared for.

At birth, already in the delivery room, the intestines and other herniated organs will be covered with moist, warm gauze to protect them from contact with air and bacteria.

The baby will then be transferred as soon as possible to the Neonatal Intensive Care Unit, where the medical and nursing team will receive him and carry out the necessary investigations prior to surgery.

In many Western countries, it is the father who will be closest to the baby in this circumstance and before surgery, making him feel his loving and familiar presence, which is of fundamental importance.

This is why today neonatal intensive and semi-intensive care units are open to parents and why their presence is considered of great value for the care.

Treatment of gastroschisis

The treatment of gastroschisis is surgical.

It is usually done in the first few hours of life, after the necessary investigations have been carried out and the parents – especially the father – have been talked to about the operation.

This consists of repositioning the herniated organs in the abdominal cavity and closing the defect in the abdominal wall.

Sometimes more than one operation is necessary because of the disproportion between the organs on the outside and the space inside the abdomen, which is not large enough.

In these cases the intestine will be covered with a silicone bandage, to keep it warm and protected, and progressively pushed into the abdominal cavity to allow the latter to develop the necessary space to accommodate the intestine.

This process generally takes about a week.

A central venous catheter will also be applied to the baby, which is necessary to provide him or her with the necessary nourishment until he or she is able to feed himself or herself using his or her own digestive system.

Post-operative course

In the first few days after surgery, the baby will be admitted to the Neonatal Intensive Care Unit and will have a nasogastric tube, to drain the secretions that collect in the stomach.

He or she will also have a central venous catheter to receive the nutrition necessary for growth, parenteral nutrition, which will be discontinued as soon as the intestine resumes its normal activity.

Once the need for intensive care has passed (usually one to two weeks after surgery), the baby will be transferred to the Neonatal Surgery Department where he or she will continue treatment.

In children with gastroschisis, the intestine may have an initial poor motility, probably induced by prolonged contact of the intestinal loops with the amniotic fluid, which will affect the timing and manner of feeding.

This resumption of normal motility may also take a long time, up to about 3 weeks after surgery.

When the baby is finally able to eat, it will preferably take breast milk as this is the best food also to promote intestinal peristalsis – the movements of the intestine induced by the contraction of the muscles – and the baby’s well-being.

This will occur with breastfeeding, or bottle-feeding.

The main complications of the post-operative course are delayed resumption of normal intestinal activity and infections, which are treated with antibiotic therapy.

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