Successful management of gastroschisis – case report and literature review

Introduction

Gastroschisis is a paraumbilical full-thickness abdominal wall defect, associated with protrusion of the bowel through the defect. This defect is usually observed to the right of the navel⁽¹⁾, involving in all cases the small intestine⁽²⁾ and sometimes the stomach, colon or gonads⁽¹⁾. The eviscerated structures are not covered by membranes, and they are exposed to the amniotic fluid (and external environment – after delivery), increasing the risk of infections and injuries⁽²⁾. The cited risk factors for gastroschisis are young maternal age, smoking, drug use, and maternal infections⁽³⁾. A genetic condition is rarely associated, and fetal karyotyping is not routinely offered. However, pregnancies complicated with gastroschisis have an increased risk of developing intrauterine growth restriction, preterm labor, intrapartum fetal heart rate abnormalities, and increased hospitalization length⁽⁴⁾. There is also an increased risk of intrauterine fetal demise⁽⁴⁾.

The spread of routine first-trimester nuchal scans with the purpose of screening for chromosomal abnormalities greatly improved the detection of fetal structural defects. Nowadays, the detection rate for gastroschisis during routine first-trimester scans is high⁽⁵⁾. 

We report a case of a preterm newborn with right-sided gastroschisis. The defect was diagnosed antenatally. The baby had the benefits of immediate (first day of life) active surgical management, with a successful outcome.

Case report

A 19-year-old pregnant woman was referred to the Prenatal Diagnosis Unit in the Emergency County Hospital of Craiova for the suspicion of fetal abdominal wall defect.

The patient was a smoker (one pack per day) and presented with no previous obstetric history. She had a late booking and registration (no previous prenatal care). At 29 weeks and 3 days of gestation, the ultrasound report described a live fetus with an estimated fetal weight of 1480 g. The fetus presented a paraumbilical abdominal wall defect to the right side of the midline, with herniation of the free-floating bowel into the amniotic cavity: fetal gastroschisis (Figure 1). The amniotic fluid volume was normal.

The patient was assessed by a multidisciplinary team (pediatric surgeon, neonatologist and maternal-fetal specialist), and specialized tailored postnatal care was offered. The patient expressed interest in a full spectrum of neonatal interventions.

The steroid prophylactic treatment was administered. The patient presented with preterm labor at 35 WA, and the team performed an emergency caesarean section delivery. The preterm newborn was a baby girl weighing 2080 g, with an Apgar score of 8 at 5 minutes.

The neonatologist described the eviscerated bowel to be mild edematous, and no other associated anomaly was diagnosed postpartum (Figure 2).

Intensive neonatal care was initiated immediately after delivery to maintain physiological homeostasis: intravenous fluids, thermoregulation, and bowel protection (Figure 3). Also, a nasogastric tube was ensured to facilitate intestinal decompression.

The newborn was managed in the operating room by a multidisciplinary team: pediatric surgery and neonatology.

During the following hour, the baby was transferred to the pediatric surgery department. The intervention was soon performed. The bowel was inspected at the time of reduction for obstructing bands, perforation or atresia (Figure 4a). A nasogastric tube was inserted into the stomach to keep it empty in order to prevent choking on or breathing in stomach contents into the lungs (Figure 4b). The team opted to return the exposed bowel to the abdominal cavity, with a minimal intestinal injury and without increasing the intraabdominal pressure. In the end, the wall defect was completely repaired.

The patient required intubation with mechanical ventilation the following four postoperative days. She had a slow favorable evolution. The intestinal movement was resumed spontaneously on the third day after surgery. General nutrition was resumed on the nineth day. After one month, the patient was discharged in very good condition, weighing 2500 g (Figure 5).

Two weeks after the discharge, the newborn presented important abdominal distension, vomiting, and lack of bowel movements for 24 hours. She was readmitted with the suspicion of ileus and treated with antibiotics and parenteral nutrition for seven days. All symptoms and clinical signs improved with conservative management. Currently, the baby girl has excellent development, with no further complications.

Materials and method

Following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines for reporting systematic reviews, we performed a search on PubMed and Google Scholar databases, using the keywords “gastroschisis”, “ultrasound” and “neonatal surgery”.

We included in our study manuscripts reporting cases diagnosed with gastroschisis that received prenatal care and surgical treatment. We establish the exclusion criteria: uncertain diagnosis, vanishing or spontaneous repair of the defect, chromosomal diseases, pregnancy termination, ongoing pregnancies, and treatments other than surgery (e.g., silo placement). After a first screening based on titles and abstracts, all selected papers were assessed based on the full text to choose the relevant publications. Two authors carried out this review independently.

The informed consent was obtained from the patient for the publication of the case report.

Results

We identified 79 articles that were manually examined in accordance with the inclusion and exclusion criteria. After the exclusion of articles that contained no postnatal information on patients with gastroschisis and the exclusion of articles with no abstract or full text, duplicates, or other languages, 32 articles remained. A further assessment based on the full text led to the exclusion of 17 papers.

Data related to maternal age, parity, gestational age at diagnosis, ultrasound and MR-associated findings, delivery, the characteristics of the fetus, surgery, and neonatal outcomes were extracted. As seen in Tables 1 and 2, we were not able to collect all the data according to our objective because in some cases there were no mentions in the description^(6-20).

The mean maternal age at diagnosis was 23.5 years old, with a 5.7 standard deviation. Two studies did not report the maternal age^(6,20).

Three studies did not provide data about parity^(6,15,20). Eight out of 12 patients (66.66%) were primiparous, two out of 12 patients (16.66%) were secundiparous, and two out of 12 patients (16.66%) were multiparous.

Four out of 15 studies did not mention information about the gestational age at diagnosis^{(12,14,15,20)}. One study reported a normal previous scan⁽⁹⁾. In 70% of cases, the diagnosis was proposed in the second trimester, in 20% of the cases, in the third trimester, and 10% in the first trimester.

Eleven out of 15 studies (73.33%) did not report any other ultrasound or MRI-associated findings.

One study did not report the gestational age at delivery⁽²⁰⁾. Also, 57.14% of the newborns were premature, and 42.86% were born at term.

One study did not report the delivery mode⁽¹⁵⁾. In 71.43% of cases, a caesarean section was performed, while 28.57% were vaginal deliveries.

In terms of gender distribution, there was a predominance of female newborns diagnosed with gastroschisis, representing 78.57%, while 21.43% were male newborns. One study did not report gender⁽¹⁹⁾. For the studies that reported birth weight, the mean weight was 2220 g, with a standard deviation of 378.65.

Three out of 15 studies did not report the herniated organs. Eleven cases out of 12 (91.67%) reported as herniated organs parts of the digestive tube, while one case (8.33%) reported herniation of both parts of the digestive tube and the internal genital organs.

Eleven out of 15 newborns (73.33%) were operated on the first day of life.

Seven out of 15 studies (46.67%) reported intraoperative complications associated with gastroschisis: two cases associated with bowel malrotation, three cases reported intestinal atresia, one case with a large stomach perforation, and one case reported a smaller caliber of the colon.

Twelve out of 15 surgeries (80%) did not encounter any postoperative event.

Discussion

The International Clearinghouse for Birth Defects Surveillance and Research defines gastroschisis as “a congenital malformation characterized by visceral herniation usually right-side abdominal wall defect to an intact umbilical cord and not covered by a membrane”⁽²¹⁾.

The cause of gastroschisis is incompletely understood. Gastroschisis is caused by a failure of the formation and development of the ventral body wall during embryogenesis, resulting in herniation of the bowel.

The rate of gastroschisis has increased significantly, and it seems to be associated with young maternal age, with the highest prevalence among mothers aged below 20 years old⁽³⁾. Our case also falls in this age group. Approximately 10% of cases are associated with other non-gastrointestinal pathologies, and in up to 25% of cases, additional gastrointestinal problems are present. In our case, the gastroschisis was isolated – no gastrointestinal associations were detected, or other systems’ defects. The karyotype is reported to be abnormal in 1% of cases, usually in the setting of associated abnormalities⁽²²⁾. In our case, karyotyping was not performed, due to the absence of associated structural anomalies and the normal phenotype.

Gastroschisis can be accurately diagnosed by a prenatal ultrasound performed in the second trimester⁽²³⁾. Usually, the ultrasound scan detects a defect to the right of the umbilical cord, and free-floating bowel loops are visualized. After the diagnosis, we checked the fetal growth and the amniotic fluid volume every three to four weeks, according to current commendations⁽²⁴⁾. The bowel exposed to amniotic fluid for a long period of time can become thickened and dilated. In our case, the good quality of the exposed bowels was preserved. Oligohydramnios may be related to fetal growth restriction and can be a risk factor for cord compression, while polyhydramnios may predict bowel atresia⁽²⁵⁾. Fortunately, in our case, there were no such complications. Growth restriction in fetuses with abdominal wall defects usually indicates increased adverse neonatal outcomes⁽²⁶⁾. Our fetus maintained a normal growth curve in utero, paving the way to a good outcome postpartum.

It is advisable to offer prenatal care by a group of specialists, including a maternal-fetal medicine specialist, neonatologist and pediatric surgeon. This assures patient-specific counseling before delivery. The mean gestational age for spontaneous delivery in women carrying infants with gastroschisis is 36 weeks of gestation⁽²⁷⁾. We performed an emergency caesarean section at 35 weeks, due to the spontaneous onset of preterm labor.

The management of the newborn must begin in the delivery room. The fluid loss through the exposed bowel is 2.5 times higher than the amount of a healthy newborn⁽²⁸⁾. Initial management includes protecting the exposed bowel by placing the lower half of the infant into a bowel bag. This maneuver allows the protection of the bowel, as well as the visualization of the blood flow and perfusion of the bowel. An orogastric tube should be inserted to decompress the stomach⁽²²⁾. The extended team performed all these recommended interventions.

Compared with infants born with other abdominal wall defects, infants born with gastroschisis have the most favorable prognosis, with excellent long-term outcomes⁽²⁹⁾. The overall survival rate is 98% in live newborns⁽³⁰⁾. The need for surgery beyond the neonatal period is reported to be significant, with approximately 25% of patients requiring surgical treatment for a gastroschisis-related complication, most commonly bowel obstruction, within the first year of life⁽³¹⁾. In our case, these short-term and long-term complications were absent.

Conclusions

Gastroschisis is a rare congenital defect. It implies prenatal diagnosis by specialized practitioners and timely referral of the mother (before birth) to a tertiary unit with pediatric surgery facilities. Routine preterm delivery or elective caesarean section in the absence of obstetric indications remains controversial, as their efficiency to prevent adversities lacks scientific proof. After delivery, the initial therapeutic goals in the neonatal intensive care unit are represented by the maintenance of physiologic homeostasis with intravenous fluids, respiratory support if required, thermoregulation, and bowel protection. The goal of surgical treatment of gastroschisis is the reduction of the intestines and abdominal closure, with the avoidance of physiologically intolerable increases in intraabdominal pressure. This management avoids the complications and ensures a favorable outcome. Nowadays, the short- and long-term prognosis of isolated gastroschisis is excellent. 

Corresponding author: Ştefania Tudorache, e-mail: stefania.tudorache@gmail.com

Conflict of interest: none declared  
Financial support: none declared
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