FREQUENTLY ASKED QUESTIONS
Gastroschisis is a disorder with extremely varied outcomes, and as such there is no way to accurately predict individual results with certainty; everything from method of delivery to surgical options to length of hospital stay and long range outcomes can change in a moment. Experienced medical professionals will be able to make estimates based on their training and available literature. Always consult your doctor to discuss their recommendations for your case, and ask for a second opinion if you are unsure of how to proceed. Avery’s Angels Gastroschisis Foundation neither takes a stance on treatment options nor offers recommendations; all information provided is for reference only.
Gastroschisis is detected in one of three ways: most often, via elevated levels of a routine blood test called an Alpha Fetoprotein test (or AFP); it can also be detected via routine ultrasound, which is typically the 20 week ultrasound;1 and rarely, gastroschisis is unknown during the pregnancy and is then diagnosed only at birth. Infrequently, mothers have reported a sense of “something being wrong” which was later confirmed via medical tests showing gastroschisis. Early detection is an important factor in the health of a baby with gastroschisis, and as such, routine pregnancy visits should begin as soon as a woman realizes she is pregnant.
Currently, there is no known cause of gastroschisis. However, researchers are working hard and have found many associations which can help to predict the risk of having a child with gastroschisis. For more information, see our Gastroschisis page.
Maternal-Fetal Medicine physicians specialize in high risk pregnancies. These doctors are obstetrician/gynecologists who have had additional training to provide them with the skills and knowledge to handle your pregnancy.2 They will typically work in conjunction with your regular ob/gyn as part of your team to ensure the best health outcomes for both you and your baby.
It is important for medical professionals to carefully monitor the baby throughout the course of your pregnancy. This will assist with determining important factors in when to deliver the baby including bowel dilation, growth restriction, intestinal blood flow, amniotic fluid levels, and more.3 They will also measure the baby’s heart rate and estimate weight as well.
A non-stress test (or NST) received its name because there is no stress placed on the fetus; it is a noninvasive procedure performed after 28 weeks gestation in high risk pregnancies. During an NST, two belts are attached to the mother’s abdomen – one to measure the baby’s heartrate, and one to measure the uterine contractions. The “reactivity” of the heart rate is compared to the baby’s movements. Sometimes, the baby may be sleeping, and the doctor or nurse may use a “buzzer” to wake the baby up to complete the test. There are no risks to an NST, and the test will help determine if the baby is receiving enough oxygen or if s/he is in any distress.4 This can be performed in the doctor’s office, in the hospital, or sometimes at a patient’s home.
A Biophysical Profile (or BPP) is a combination of an ultrasound with a non-stress test. An ultrasound technician will watch your baby during the NST, and will measure breathing, movement, heart rate, muscle tone, and amniotic fluid. The measurements will result in a score which will assist in determining the health of your baby. A BPP is typically done after 32 weeks gestation, and poses no risks *with the exception* of some concerns that have been raised about repeated ultrasounds.5
Ultrasound technicians typically use a standard measurement for growth. While there are a few available formulas for this measurement, most use the Abdominal Circumference measurement as part of the calculation. In a baby with gastroschisis, this measurement is not the same as it would be if the intestines were enclosed in the abdomen. While many gastroschisis babies are intra-unterine growth restricted (or IUGR) for various factors, this is true for roughly half of gastroschisis pregnancies. Studies show that traditional measurements tend to underestimate the weight of a gastroschisis baby in utero.6 Please consult with your doctor for alternative measurement options, and ask about the Siemer formula, which has been shown to be most accurate in determining the weight of a fetus with an abdominal wall defect in utero.7,8
Oligohydramnios (or low amniotic fluid levels) can occur during gastroschisis pregnancy. This is usually detected during a Biophysical Profile (or BPP) and is measured by the Amniotic Fluid Index (or AFI). Low fluid is a concern because of an increased risk of miscarriage or stillbirth, compression of fetal organs, impact of lung development, growth restriction, preterm birth, cesarean delivery, and more. Depending on how low the amniotic fluid levels are, your doctor may recommend rest and a repeat ultrasound, maternal rehydration from oral liquids, amnioinfusion (insertion of extra fluid directly into the amntioc sac), hospitalization, or emergency delivery. Gestational age will play a large factor in the doctor’s decision.9
Polyhydramnios (or high amniotic fluid levels) is also a possible occurrence in gastroschisis pregnancies. This can happen due to fetal intestinal dysfunction and nutrient malabsorption resulting in excess amino acids in the amniotic fluid10. While there can be additional causes for polyhydramnios, it often does not cause significant issues but can be an indicator for medications or fluid removal, as well as a factor in pre-term labour.11 This can be an indication of additional complications such as intestinal atresia, which will require further surgical intervention after birth.12
Bowel Dilation simply means that the baby’s intestines are measuring larger in some parts than others and can be a sign of complications.12 This can be caused by several factors, including bowel irritation which some doctors believe is caused by exposure to amniotic fluid, loss of blood flow to the intestines in utero, narrow spots in the intestines called “strictures”, or bowel atresia.13 Your doctor will typically begin measuring loops of bowel via ultrasound towards the end of the second trimester as part of a comprehensive fetal assessment.
Studies show that intra-abdominal bowel dilation measurements are indicative of intestinal atresias and longer NICU stays when measuring greater than 14mm.14Repeated studies demonstrate that measurements of extra-abdominal bowel dilation is not a good predictor of adverse outcomes15 and fetal health should be evaluated via ultrasound using the standard Biophysical Profile.16
There is much debate over what gestational time is optimal for gastroschisis delivery. Gastroschisis infants tend to be born early. Average gestational age is around 36 weeks for spontaneous (non-induced) labour.18 Traditional wisdom held that the optimum time to deliver gastroschisis infants is at 37 weeks gestation or earlier, while trying to time delivery to decrease common issues with premature infants. Studies have shown that gastroschisis infants born after 37 weeks gestation have lower apgar scores18; however, certain studies now show that elective delivery prior to 37 weeks correlates with extended TPN use and increased NICU stays19,20, while delivery past 38 weeks is associated with increased bowel matting20, while others feel that delivering as close to 40 weeks as possible is best.21 Much of the delivery date is still left up to practitioner preference, but doctors will always use tools such as Non Stress Tests and Biophysical Profiles to guide their decision.
Previously, doctors routinely delivered gastroschisis babies by cesarean section, believing this to be the best option to protect the exposed bowel.21 However, we now know that unless otherwise indicated by medical necessity, a vaginal delivery is safe for gastroschisis22 babies and a cesarean does not reduce postnatal complications of gastroschisis.23 Additionally, a cesarean section is associated with significant risks for both mother24 and baby24,25, can increase risks in future pregnancies26, and mothers face a longer recovery time.27
Very rarely, the abdominal wall will close partially or completely around the intestines while the baby is still in the womb. This is very dangerous as it can cause a significant amount of bowel to be lost, and can be life-altering or even fatal.28This is called vanishing or closing gastroschisis. While there is no definitive way to predict this, dilated loops of intra-abdominal bowel and decreased blood flow to the exposed intestines can be an indicator.29
The two most common methods of surgical repair are primary closure or staged silo closure. In a primary closure, the intestines will be reduced back into the abdomen shortly after birth and surgically sutured. When this is not possible, the intestines may be placed in a plastic silo and slowly reduced into the abdomen over the course of a few days, then surgically sutured. Sometimes, this is a matter of surgeon’s preference. Studies conflict on which method is “best”, although primary closure is often preferred.30 However, a recent analysis demonstrated that staged silo closure may have better clinical outcomes.31 Other studies show little difference in the post-operative outcomes but remind us that the length of time taken to close a baby’s abdomen is correlated to a delay in intestinal function and an increased NICU stay.32
A third, less common option is a sutureless closure. In this method, the surgeon reduces the intestines back into the body, then uses the infants own umbilical cord to cover the opening and a small piece of clear film is placed over this.34
NOTE: there are currently two clinical trials involving closure methods which are recruiting for patients to enroll in their studies. One is located at Standford University and is studying sutureless vs. sutured closure35, while the other is located at Children’s Mercy Hospital and is studying silo vs. primary closure.36Participation in clinical trials is entirely voluntary, and those electing to join the studies are encouraged to thoroughly read all informed consents to be sure they understand any inherit risks or benefits to themselves or others.
The average NICU stay for an infant born with gastroschisis is 6 weeks37 but may be up to one year38 or longer. The CDC released a report in 2007 which acknowledged that of newborns with birth defects, the longest hospital stay tends to be for those who had surgically repaired gastroschisis, with an average stay of 41 days.39There is wide variation in the length of hospital stays for gastroschisis babies, which depends mostly on the length of time needed to establish intestinal function and the degree of prematurity.40 For this reason, it is difficult to predict how long your baby will be in the NICU before your child is born.
Having a baby in the NICU is probably not what was expected when you first found out you were pregnant. Many parents are worried that they will be unable to bond with their child because of the NICU experience. It is important to remember that bonding is a process. Parents of gastroschisis infants cannot always hold their baby right away, but should be reassured that they can still bond with their baby. Additionally, breastfeeding is not possible until the intestines are functioning properly but once the baby is able to eat, this is important as well. In the meantime, skin to skin contact can help both you and your baby bond by regulating breathing and reducing stress.41 Visit your baby regularly, talk to him/her, and consider playing music near your baby’s bedside to provide comfort when you are not present.
NOTE: There is currently a clinical trial studying the effectiveness of music therapy on gastroschisis infants. 42
Remember to celebrate milestones…just because some of your baby’s “firsts” take place in the hospital, doesn’t mean that these moments are any less important.43[See image of a gastroschisis infant celebrating her first Halloween in the NICU.44]
For more ideas, see our Shower Insert and Comfort Pamphlet on the Assets page.
44. IMAGE: gastroschisis baby Ashley celebrating her first Halloween in the NICU. She was a lamb, because the NICU care team gave her a stuffed lamb at her bedside upon admission.
Avery’s Angels provides volunteer “veteran” supporters to families in need. These volunteers understand the stress of having a child in the NICU and donate their time to supporting others who are where they have been. To be connected, please complete our Support Registration form.
Additionally, the March of Dimes offers a NICU Family Support Program.45 Your hospital may offer additional avenues of support, and always ask to speak with a hospital social worker to learn about how they can help you and your family during this difficult time.
Having a baby in the NICU places stress on the whole family unit, including extended family members. Parents of children with birth defects report a significant impact on quality of life both during the NICU time and beyond – including adverse mental health effects, social isolation, financial strain, impact on other siblings, and even an increased divorce rate.46 It is important to consider connecting with a hospital social worker or a therapist for support and to learn coping methods to assist with handling this stress.
From the time of birth until the intestines are completely back within the body, your baby’s exposed intestines place your child at a greater risk of sepsis, hypothermia, hypoglycemia, and dehydration. All of these are serious risks.47
While your child is healing, the most concerning complication is Necrotizing Enterocolitis (or NEC)47. NEC is an intestinal infection that can cause delicate bowel tissue to die, leading to Short Bowel Syndrome. Possible causes for this are a loss of bloodflow or a bacterial infection48. Studies have shown that premature and formula feed infants have a greater risk for contracting NEC49 and breastfeeding can help guard against a NEC50, even if donor milk it utilized51.
Additionally, while your child has a central line and is receiving TPN there is a risk of infection. This is commonly a staph infection52 or a fungal infection53, both of which can lead to septicemia – a potentially fatal blood infection.
Before your child can begin to eat, the intestines must begin to work properly. Delayed intestinal motility is a factor in long term hospital stays and extended TPN use54, which can cause liver damage.
Occasionally, an atresia (closure) or intestinal stenosis (narrowing) will be diagnosed when your child begins eating. This occurs in 10-20% of gastroschisis cases55. An atresia will always require surgery56, while a stenosis may or may not require additional procedures.
The most common complication that children with gastroschisis experience is a slow growth rate57, acid reflux which may include frequent vomiting, and malabsorption. This typically improves over time; an exception is with children who have Short Bowel Syndrome as a result of lost bowel. A loss of 50% or more of the small intestine is defined as Short Bowel Syndrome, which causes dehydration, malabsorption, and malnutrition58.
Another common complication is an abdominal hernia, which many children with gastroschisis require one or more surgeries to correct later in life57. Sometimes, children will become embarrassed about their scars which can impact their emotional development and self-esteem. This is especially common in adolescence, when they are beginning to feel more self-conscious about their bodies. It is important to talk to your child about his or her birth defect and provide emotional support throughout the course of their lifetime47. It can be extremely beneficial to gastroschisis survivors to meet others like them so they do not feel isolated in their condition.
Some children will develop sensory processing issues from their NICU experience for reasons that are not fully understood79. Some children will have feeding or speech problems as a result of delayed feedings or the tubes inserted in their mouths. Some children will have problems with muscle tone and developmental delays from restricted mobility while in the hospital47. All of these issues can be treated with therapy from a qualified occupational or speech therapist80, as needed.
In gastroschisis patients, the intestines always have a degree of malrotation which can cause kinks or twists in the bowel as well as nonspecific pain59. The appendix can be in a different spot in the body, so appendicitis may present differently in gastroschisis survivors if the appendix was not removed during the initial closure operation60. They are also at greater risk for intestinal intussusceptions, and adhesions can cause pain and/or blockages years after surgery61. Intestinal Blockages typically require additional surgical intervention.
Although a more rare complication, studies show that gastroschisis is the leading cause of pediatric intestinal transplantation62 and some children requiring long term TPN use will need liver or multivisceral transplantation63.
Hospital readmissions are most common within the first year of life, with approximately 40% of gastroschisis patients having at least one readmission in their first year64.
While there is no definitive way to predict which children will require additional surgeries, common reasons are hernia repairs, atresias, and blockages as noted in the FAQs above. Although rare, there is a risk of transplant surgery especially for those with Short Bowel Syndrome65.
When making a decision to have surgery in a non-emergency situation, consider reviewing US News and World Report’s “Top Ranked Pediatric Hospitals for Gastroenterology & GI Surgery” to assist with making an informed decision66.
Traditional knowledge holds that there is a 3.5% chance of having another child with gastroschisis, but studies show that this is greatly underestimated67 and there “may be higher risk of recurrence than previously known”68. However, multiple studies have shown that there is a familial component to this birth defect. Both the maternal and paternal history should be considered69 and well as any family history of hernias70. A unique multi-generational pedigree study from Utah recently showed that 23% of gastroschisis cases had a familial relation and demonstrated a need for further studies into genetic susceptibility for gastroschisis71.
NOTE: The Utah Center for Birth Defects Research and Prevention is currently studying multigenerational families for genetic links to birth defects, including gastroschisis. Utah is the only state with this capability72. For more information or to participate in the study, contact 866-818-709673.
Having a baby with a birth defect is stressful, as is having a baby in the NICU. This can exacerbate postpartum reactions or “baby blues” that some women experience naturally after birth74. Reach out to friends and family members for support, and consider speaking to the hospital social worker as well. If you are experiencing signs of anxiety or depression such as fatigue, hopelessness, loss of interest in activities, irritability, or extended periods of crying, or a profound sense of loss, consider seeing a therapist for additional support. It is common to experience depression when you have a child in the NICU75. If it persists once your baby is home and healthy, you may have Post Traumatic Stress Disorder (PTSD)76. Studies show that amongst NICU parents, mothers have a prevalence of PTSD ranging from 15%-53% and fathers have a prevalence of 8-33%77. If you are experiencing thoughts of suicide or harming others, call 911 immediately.
Studies show that peer-to-peer support can greatly reduce stress, depression, and PTSD41,77, 78. As always, we at Avery’s Angels are here to be your angels….to sign up for support please email [email protected].
Written by Kayte Thomas, MSW, LCSW-A. Medical Liaison, 2010-2015