Gastroschisis

Evidence 

https://onlinelibrary.wiley.com/doi/10.1002/bdr2.2299 

Tepper, N. K., Chowdhury, J., Moore, C. A., Werler, M. M., Mishkin, K., & Reefhuis, J. (2024) 

Gastroschisis is a birth defect in which a portion of the intestines extrude through a defect in the abdominal wall. The incidence of gastroschisis has increased in the U.S. and worldwide over several decades although the reason for the increase remains unknown. It occurs most frequently among infants of younger mothers and the reason for this inverse association has been studied extensively but, similar to the temporal trend, remains unknown. 

Education 

Gastroschisis is a problem with the baby’s belly called an Abdominal defect. It happens early in pregnancy while the baby is growing inside the womb. Normally, organs like the intestines start growing outside the baby’s body and then move inside before the baby is born. The intestines are long tubes that help your body digest food and get rid of waste. 

With gastroschisis, the muscles that should cover the baby’s belly don’t join together properly. The intestines grow outside of the baby due to an opening just right of the umbilical cord, leaving an opening near the belly button. Through this opening, the intestines and sometimes other organs, like the stomach can stick out. The hole can be small or big but is usually 1 to 2 inches wide. 

What causes gastroschisis? 

Doctors do not know exactly what causes gastroschisis although research has shown that there are some things that might make it more likely. Having a risk factor doesn’t mean your baby will get gastroschisis, but it might increase the chance. It’s good to talk to your health care team about ways to lower your risk. 

• Teenage mothers are more likely to have a baby with gastroschisis than moms who are 20 years old or older. 

• Smoking is a consistent risk factor for gastroschisis. (Alcohol is not consistent in the research). Generally, it is best to stop drinking and smoking prior to getting pregnant.  

• Infections…many studies now demonstrated an increased risk 

• Genes are like instructions in your body that tell it how to grow and work. Sometimes, genes can change by themselves or be passed down from parents. These changes might be linked to gastroschisis. If someone in your family had gastroschisis, talk to a genetic counsellor. But gastroschisis usually happens in families without any history of it. 

• Eating healthy foods, especially lots of fruits and veggies, can help you have a healthy pregnancy. 

How is gastroschisis diagnosed? 

In many cases Gastroschisis maybe visible on prenatal ultrasound scanning as early has 14 weeks of pregnancy, which is useful because it gives time for discussion and planning for when and where to give birth. 

During the pregnancy, you will need extra monitoring of your baby. Ultrasounds will measure your baby's growth and placental function. Heartbeat monitoring called Cardiotocographs –CTG’s will check the baby’s well-being. Your Obstetrician will discuss with you how often you will need appointments. 

Babies with gastroschisis are likely to be born earlier than the expected birth date This is due to concerns for the baby’s growth or their bowel health. Your Obstetrician will discuss the time for the baby's birth and the safest way for you to give birth. 

Your obstetrician will recommend you give birth at a hospital that has a Neonatal intensive care unit (also called NICU). The NICU is the nursery in a hospital where premature and sick newborns get medical care. 

If you did not have prenatal tests or it wasn’t picked up during prenatal appointments, the doctor will diagnose gastroschisis at birth. 

How is gastroschisis treated? 

Babies with gastroschisis will need surgery to close the abdomen (belly). This will happen soon after the baby is born. 

A neonatal paediatrician (baby doctor) will be at your birth to provide care for your baby. Immediately after birth, your baby’s abdomen and bowel will be covered with a plastic wrap called a Silo. This prevents loss of water and heat from the abdomen (belly) 

Your baby will not be able to start milk feeds until they have had surgery to ensure the intestines are as empty as possible. 

The type of surgery your baby will need depends on their health and the size of their bowels compared to how much room is in their belly.  

Types of Surgery 

Primary Gastroschisis Repair: This is when only a small part of your baby’s intestines is outside their belly and isn’t too swollen. The doctor will do surgery soon after birth to put the intestines back inside and close the hole. They usually do the surgery on the day your baby is born. Before the surgery, your baby will get medicine called general anaesthetic which will make them go to sleep so they won’t feel pain. The doctor will check the intestines for any damage and remove any unhealthy parts. Then, they will put the intestines back into the belly and close the hole. 

Staged Repair: Sometimes, a lot of your baby’s organs are outside the belly, or your baby isn’t strong enough for the first type of surgery. In these cases, the repair is done in steps. This is also done if the intestines are very swollen, if there’s a lot of intestines outside, or if the belly isn’t big enough to hold all the intestines. 

Your healthcare team will talk to you about the best treatment plan for your baby, they will explain the operation in more detail and discuss any worries you may have and ask for permission for the surgery by signing a consent form. Another doctor will also visit to explain about the anaesthetic. 

Recovery 

Usually, your baby’s surgeon or a member of their health care team will meet with you immediately after the surgery is completed. It can then take some time for your baby to be settled back into the NICU or SCN before you are finally reunited. After surgery, your baby may look very different and may require additional equipment to help with their recovery. 

Your baby will be placed into a special crib called a Humidicrib - Also known as an incubator or isolette, this is a clear plastic box that provides a warm, controlled, clean, enclosed environment where your baby can be easily observed. It helps protect the baby from infection and excess handling and prevents them from using vital energy/calories to keep warm.  

The staff in the Neonatal Unit will encourage you to touch, speak and assist with your baby’s care, this is called Family Centred Care. This can be daunting, especially while your baby is connected to drips and monitors, but it will become easier with time. 

Skin to skin cuddles (Kangaroo Care) with your baby can begin after the surgery and when your baby is well enough for holding. Keep asking your healthcare team for when this will be possible. 

While your baby’s intestines recover and start to work, your baby will slowly start feeds. They will be fed (total parenteral nutrition or TPN) which is delivered through a thin, flexible tube (catheter) that has been inserted into a vein. 

Your baby will start milk feeds when the medical team assess your baby is ready as it will take time for your baby’s stomach and bowel to tolerate the milk feeds.  

In order to receive the milk, a small thin tube called a naso-gastric tube (NG tube) is passed through their nose or mouth, and down into their stomach. Your baby’s feed can then be pushed down the tube with a syringe or sometimes an electric pump may be used to continuously push the milk down. 

Babies usually take many weeks before they are on full milk feeds. 

What are some common complications in babies with gastroschisis? 

Most babies with gastroschisis make a full recovery from surgery. Complications can sometimes occur such as: 

Born Premature and/or small -Babies with gastroschisis may be born prematurely or born small due to slow growth in the womb before birth.  

Breathing problems and heart problems - Your baby may need a breathing tube and breathing machine (also called a ventilator) for a few days or weeks after surgery. 

Feeding and digestion problems - A baby with gastroschisis may have scar tissue or an intestinal blockage that affects digestion. An intestinal blockage is when food or a stool can’t move through the intestines. This can decrease blood flow to the intestines and kidneys, causing your baby to have digestion problems after birth. 

In rare cases, babies with gastroschisis have a part of the intestine that is thinner than normal, are missing a part of the intestine or have a twisted intestine. These defects can damage the intestine and cause problems with digestion and absorbing nutrients from food. This condition is called short bowel syndrome. 

Infections -About 1 in 3 babies with gastroschisis develops necrotizing enterocolitis (also called NEC). It happens when tissue in the small or large intestine is injured or inflamed. When this disease attacks intestinal tissue it can lead to damage and can even develop into a hole (perforation) in the intestinal wall making it difficult to protect itself from bacteria passing into the bloodstream. Waste then passes into the baby's abdomen and can make the baby very sick. The injured intestine, or sections of it, may die and need to be surgically removed. Surgery may require a colostomy, which may be able to be reversed at a later time. 

Short Bowel Syndrome- In some cases, damage due trauma to the bowel such as atresia or infection can cause a baby born with Gastroschisis to lose segments or portions of their bowel, which can result in a condition called “Short Bowel Syndrome” or SBS. A rare expression of Gastroschisis known as “closing” or “vanishing” gastroschisis can occur during development where the defect starts to close down later (~22 weeks gestation) which cuts off the blood supply from the bowel inside of the abdominal wall to the bowel left outside of the abdominal wall. These babies are born with SBS. SBS is highly treatable at established IRP (Intestinal Rehabilitation Programs) and these children can have strong Quality of Life outcomes.  

How are gastroschisis complications treated? 

Your baby may lose a lot of fluids and have a low temperature because some of their organs are outside of their body. Babies with gastroschisis may need: 

• Antibiotics to prevent infection. These are medicines that kills certain infections. 

• An NG tube to drain the stomach and keep it empty 

• A warming lamp to raise their body temperature 

• Fluids and nutrients given through an IV to prevent dehydration 

• Oxygen to help breathe 

• Pain medications 

The outlook for children with gastroschisis is good, with the majority growing up to live normal lives. Research shows that children with simple gastroschisis, where no damage occurred to the intestines stay in hospital for about a month and start to feed normally within a few weeks of treatment. 

Some children need to continue with TPN for a longer period so that they can gain weight to reach the right size and weight for their age. They may seem smaller than other children of the same age for the first few years, but the majority catch up in time. 

Gastroschisis babies are all born with malrotation as the defect interrupts the portion of development during embryonic folding where the bowel flips, draws into the abdominal wall and the abdominal wall closes down. Due to the prolonged exposure to amniotic fluids by nature of the defect, and surgical interventions necessary at birth, all Gastroschisis survivors are at an increased risk for developing volvulus, intussusception, obstruction, malabsorption and poor motility across their lifetime. These complications can be treated as the child grows and develops at experienced centres. It is important that abdominal pain, changes in stool and appetite as well as typical signs of stomach flu should be considered with caution.  

Family Story 

https://www.miraclebabies.org.au/content/chayce/gjm4rh 

Gastroschisis Awareness Day is on 30th July 2024 

https://averysangels.org/gastroschisis-awareness-day-2024/ 

Empowerment  

If you have received unexpected news about the development of your baby, firstly, know that you are not alone. One in twenty-two women and their partners will find out that their baby has a congenital anomaly.  

For many parents, prenatal screening can feel like just a routine appointment. Ultrasounds are often viewed as a chance to see and bond with their growing baby. This means that parents are often unprepared and feel shocked when given unexpected news.  

After the initial shock, expectant parents commonly describe experiencing a roller coaster of emotions and thoughts. Other experiences can include:  

• Profound sadness and lots of crying  

• Guilt and worry whether they caused the anomaly  

• Difficulties or changes in their sleep  

• A want to avoid people  

• Anger, frustration, and irritability  

• Feeling loss of the typical pregnancy and expectations  

• Feeling unsure of what will come 

For some parents, the intensity of emotions eases quickly, and they find a place of hope and acceptance, while others may experience these symptoms for the rest of their pregnancy or into the postnatal period.  

Strategies to help you cope with unexpected news  

There is no single way to cope with unexpected news. Parents are individuals with their own stories, histories, and values. While there are common experiences, how each person moves through their journey is unique, and therefore not all coping strategies will help all parents.  

Parents who have moved through the experience of receiving a prenatal diagnosis often describe these strategies are helpful.   

Finding information  

Most expectant parent find it helpful to learn what they can about their baby’s anomaly. The information helps parents feel like they are more in control and prepared. Some parents avoid the internet due to concerns whether the information is correct, and they prefer to rely on the information offered by their health care team. If you do wish to look for information, it may be helpful to stick to websites of organisations you can trust or ask your health care team for guidance to reliable information.  

Talking to loved ones  

Family and friends can be very helpful for some parents who feel they can talk openly and who appreciate the distraction that their loved ones provide. Other parents prefer not to share the unexpected news with their families or friends until they feel ready or until they have more information to answer questions that their families may ask.  

Counselling 

Talking with a counsellor or other professional may be helpful for all parents and especially important for those who do not feel ready to share the news with family.  

Speak with your health care team about what antenatal multidisciplinary counselling is available to you. 

Connecting with others  

Reaching out to other expectant parents who are also going through a complicated pregnancy is often described as helpful. Connecting with condition-specific support groups can provide a way to gain a greater understanding of the condition.  

Thanks to The Global Gastroschisis Foundation for content sharing and providing support for families.

Useful Links  

Australian birth Defects Society 

https://www.birthdefectssociety.org.au/ 

The Global Gastroschisis Foundation 

https://averysangels.org/ 

The gutsy perspective 

https://www.thegutsyperspective.org 

Through the Unexpected – Prenatal Diagnosis  

https://throughtheunexpected.org.au/ 

Panda - Perinatal Mental Health  

https://panda.org.au/ 

Beyond Blue - Mental Health Support   

https://www.beyondblue.org.au/ 

Centre for Perinatal Excellence  

www.cope.org.au