Decades ago, gastroschisis was thought to be a common embryonic mechanism associated with defects in the fusion of lateral body folds, causing abnormal closure of the abdominal cavity, similar to other congenital anomalies of the ventral body wall, and was also thought to be a separate malformation of the umbilical cord (17), usually occurring between weeks 4 and 12 after embryogenesis (18, 19). Studies have proposed several possible theories about the origin of gastroschisis, including the following: (1) abnormal fusion of the midline of the asymmetric body fold, thereby preventing the yolk sac from merging into the fixed pedicle, leading to the development of gastroschisis (20). (2) Vascular changes, including weakness and subsequent rupture of the body pleura, and abnormal degeneration of the right umbilical vein (21); in these cases, the vitelline artery ruptures, resulting in infarction and necrosis at the base of the spinal cord (22). In bivascular and thrombotic models, which suggest that the degeneration of the right umbilical vein leaves space for the right umbilical ring, hormonal changes lead to thrombotic damage to adjacent tissues and cause abdominal organ protrusion (23); 3. The rupture of the amniotic membrane at the base of the umbilical cord (24). In 2022, a study by Morris et al. used data from EUROCAT to investigate the prevalence of abnormal vascular rupture and its association with young maternal age, noting that the magnitude of the contribution of vascular destruction to the aetiology is controversial (25). In 1981, scholars first proposed that the rupture of the umbilical mesenteric artery is the underlying mechanism of gastric fissure (22). After decades of research, scholars in 2010 refuted the hypothesis regarding blood vessels (26). The challenge regarding the pathogenesis of gastroschisis involves different hypotheses that have been proposed over the decades. These vessels do not supply the umbilical cord ring and abdominal wall area from an embryological point of view, and if these vessels are abnormal, the survival of the embryo is also problematic (27). Although various theories have reasonable explanations, there is still no consistent view of the origin of gastroschisis.

The incidence of gastroschisis has been inconsistently reported in different regions, with currently reported rates ranging from 3 to 4.5 per 10,000 live births (28). Epidemiological surveys show a brief increase in the incidence of gastroschisis in North and South America and many European countries (29). There are still few studies on gastroschisis in China, and in 2022, a study on the incidence in the Chinese population showed that the incidence of gastroschisis in the offspring of patients under 20 years of age was 10.62 per 10,000 live births; however, the incidence of gastroschisis in the offspring of parents between the ages of 25 and 29 years was 1.51 per 10,000 live births (11). The same findings suggest that the offspring of pregnant adolescents are at high risk of gastroschisis (30, 31). At the same time, there are studies pointing out that racial differences are also factors in the development of gastroschisis; for example, white and Hispanic individuals are more likely to develop foetal gastroschisis (32). However, low-income families with low economic status also have an increased incidence of foetal gastroschisis (33).

Looking at studies on the pathogenesis of gastroschisis, most studies were not based on human evidence, which poses a challenging problem and drives the study of risk factors (27). Genetic factors have not been previously reported and have not been clearly established, although cases of gastroschisis among distant relatives have been reported (34, 35). Genetic studies suggest that only 1.2% of children with gastroschisis have chromosomal abnormalities (36). Therefore, the pathogenesis of gastroschisis tends to be related to environmental factors. Studies have shown that the incidence of foetal gastroschisis is associated with maternal smoking during pregnancy (37–39). Similarly, the use of marijuana, cocaine, methamphetamine (39–41), and even depression medications (42) during pregnancy can increase the incidence of gastroschisis. Environmental factors are also high risk factors for the development of gastroschisis, such as the presence of contaminants in the local environment or pesticide abuse (43–45). Some infectious diseases, such as herpes simplex virus and herpes simplex 2, have been associated with the development of gastroschisis (17). In addition to the above factors, the degree of maternal psychological stress may also be involved in the development of foetal malformations (17). A case–control study by Werler et al. evaluating 16 different levels of stress and the risk of gastroschisis found that in the group of cases, the exposure level was 6 times higher than that of the control group, and this study supported the hypothesis that gastroschisis risk factors induce inflammation and oxidative responses (46).

Accurate prenatal diagnosis of gastroschisis is important, facilitating antenatal physician consultation and subsequent perinatal planning preparation, as well as predicting the intensity of neonatal care and duration of hospitalization. Serum alpha-fetoprotein levels combined with ultrasound can detect 90% of cases of gastroschisis in children,and up to one-quarter of gastroschisis cases can be diagnosed by early nuchal chromosome screening at 14 weeks gestation (14). It is particularly important to distinguish between gastroschisis and omphalocele antenatally because they may be very similar on ultrasonography, but outcomes vary widely between foetal and neonatal outcomes. Omphalocele is caused by an intra-abdominal fold defect and is associated with multisystem abnormalities such as genetic syndromes and the nervous, cardiac, pulmonary, and renal systems. An omphalocele is a defect that occurs within the umbilical ring, and the difference between gastroschisis and omphalocele is the presence of a covered amniotic membrane, the presence of solid internal organs, and the location of the defect relative to cord insertion. Ultrasound in early pregnancy can detect 50% of cases of omphalocele associated with chromosomal abnormalities, as well as other disease syndromes and isolated malformations. The association between gastroschisis and chromosomal abnormalities is not strong, and studies have shown that only 1.2% of children with gastroschisis have chromosomal abnormalities. Therefore, data on birth defects suggest that the 14% abnormality rate may be due to the misdiagnosis of omphalocele, so the possibility of gastroschisis is overestimated (36).

Prenatal diagnosis predicts the severity of intestinal injury at birth, and complicated gastroschisis is associated with adverse neonatal outcomes. Studies have shown that foetal MRI measuring the extra-abdominal-excluded bowel volume can predict the need for silo bag treatment with reasonable accuracy, leading to better prenatal consultation and better surgeon preparation (47, 48).

Prompt intervention can improve perinatal outcomes, and we should develop treatment plans for pregnancy and the neonatal period and complete perinatal management (including pregnancy management, ectopic management, prompt transport, and neonatal surgery). The significance of prenatal multidisciplinary consultation is to regulate the scope of perinatal management and postnatal treatment to improve the survival rate and quality of life of infants. In the traditional model, prenatal consultation for structural foetal malformations is mainly performed by obstetricians, and prognosis assessment and perinatal management may not be comprehensive. The prenatal multidisciplinary consultation model with the participation of all relevant disciplines can provide a comprehensive review, and while completing prenatal consultation, treatment and follow-up plans can be formulated to appropriately address various diseases of foetuses and newborns and follow up on disease outcomes.

There is still no uniform conclusion on the timing of pregnancy termination and the manner of delivery of foetuses with gastroschisis. The goal of therapeutic preterm birth for gastroschisis is to completely detach the foetus from the inflammatory substances of the intrauterine environment to reduce intestinal damage. Studies in animal experiments have shown that increased exposure to amniotic fluid can aggravate damage to the intestinal circulation (49, 50). However, there is no definitive conclusion on whether increased exposure to amniotic fluid in human foetuses will increase intestinal damage, so the effectiveness and safety of early delivery remain controversial. One study suggested no significant difference in the postnatal outcomes (duration of hospital stay, total parenteral nutrition, and days of surgical closure of gastroschisis) of delivery before 34 weeks compared with usual obstetric care (51), and other studies have shown similar results (52, 53). Similarly, there are also studies showing that the severity of intestinal damage actually decreases with gestational age (54). Although there is evidence that the mean gestational age at spontaneous labour of foetuses with gastroschisis is less than 37 weeks (55), researchers believe that planned preterm birth may lead to reduced bowel damage and improved outcomes (56–58). However, the termination of pregnancy before 36 weeks was associated with a significant increase in adverse neonatal outcomes and hospital bills (59–62). Therefore, it is currently recommended that the timing of pregnancy termination in foetuses with gastroschisis without foetal or maternal complications should be after 37 weeks.

Postnatal management of gastroschisis requires close collaboration between multidisciplinary teams and the development of risk-appropriate standardized care pathways, with an overall good prognosis for most infants. We start our review in the following sections.

The initial goals of treatment are to avoid infusion with umbilical vein vascular access as much as possible to maintain physiological homeostasis, necessary respiratory support, thermal retention, and bowel protection. The peri-intestinal area can be protected by wrapping it in gauze soaked with saline. After the birth of a child with gastroschisis, a nasogastric tube is placed to promote intestinal decompression. To replace the loss of nasogastric tube fluid, 10% glucose sodium chloride solution can be injected to maintain end-organ perfusion, and normal neonatal capacity can be reflected by the child's vital signs, capillary refill, and urine output. Crystalloid (normal saline) or colloids should be given with caution when using volume resuscitation for hypovolemia and metabolic acidosis, and it is now accepted that fluid resuscitation should be retained beyond maintenance requirements when the foetus is hypovolaemic (14). It has been thought that the prolonged immersion of the bowel in amniotic fluid in foetuses with gastroschisis has resulted in fluid loss in the third space, so routine fluid resuscitation after birth is recommended. However, routine fluid resuscitation has been associated with adverse outcomes, including increased mechanical ventilation and hospital stays and an increased incidence of bacteraemia (63).

At present, surgical treatment is divided into 3 categories, including surgical closure in the first stage of surgery, delayed closure of silo bag placement, and sutureless closure. However, before the advent of the silo bag in the 1990s, surgical primary fascial closure was the main closure method. With the advent of silo bags in the early 20th century, for foetuses with complicated gastroschisis, closure can be delayed by placing silo bags and transferring the foetuses to the NICU to continue treatment. The transparent prefabricated silo bottom with a coil spring reinforced deformable ring (Figure 5) does not require stitching, which means that silos can be placed on a conscious baby. Due to the foetal bowel tube being immersed in amniotic fluid for a long time, oedema may occur, the abdominal wall of the foetus can be outside the abdominal cavity for a long time, the contents of the peritoneum are reduced, and the bowel tube with obvious oedema may not be able to enter the abdominal cavity; this may lead to increased physiological pressure in the abdominal cavity, leading to adverse consequences. Silo bag placement and delayed closure was initially used in cases where closure for gastroschisis could not be performed, and outcomes have been shown to be comparable or better than those of emergency primary closure (47, 48). Delayed closure by silo bag placement was associated with improved outcomes (ventilator days, duration of enteral feeding, and reduction in infection rates); however, when all studies were included, primary surgical closure was associated with improved outcomes (64). The latest advancement in the surgical treatment of gastroschisis is sutureless closure, a technique that shrinks the organs and stretches the umbilical cord through the defect, which stay in place without any fascial sutures (65, 66). In approximately 2 weeks, fascial defects shrink circumferentially to form granulation wounds, epithelialize within 4 weeks, and form a near-normal umbilical cord in appearance. Sutureless closure has been shown to be both the primary closure technique and a delayed treatment strategy (67). Studies have shown that patients with sutureless cord closure have fewer days of ventilation, general anaesthesia, and antibiotic use compared with those with primary suture therapy. Future research may focus on further identifying sutureless closure as a feasible and safe surgical modality for closing these defects (68, 69).

Infectious complications are common during gastroschisis treatment. Antibiotic treatment for gastroschisis includes “prophylaxis” before surgical closure and anti-infective therapy for confirmed or suspected infection. The incidence of surgical site infection varies with suture techniques, with the highest incidence among patients with delayed closure after silo bag placement and the lowest incidence among those with sutureless closure (70). Children with complicated gastroschisis also have a higher rate of surgical site infection and bloodstream infection associated with the central line (71). In a study of 400 children with gastroschisis, the incidence rates of surgical site infections and central line-related bloodstream infections were 13% and 15%, respectively (70). Antibiotic use rates vary widely in children with gastroschisis, so it is important to develop a standardized antibiotic regimen to minimize infection and avoid unnecessary or inappropriate antibiotic therapy (72).

Neonates with gastroschisis require total parenteral nutrition (TPN) at different stages through a peripherally inserted central catheter (PICC). Enteral feeds (preferably breast milk) usually begin approximately 14 days after surgical closure (73). Initiation of enteral nutrition depends on the presence of clinical features (dilation, defecation, and resolution of biliary-nasogastric drainage), and the risks associated with long-term TPN-associated liver disease should be avoided. Enteral feeds are usually initiated by a continuous nasogastric route and given when tolerated (74). The rate of early feeding is what determines the duration of TPN and the duration of hospital stay, with short-term outcomes for isolated gastroschisis including a survival rate close to 100%, a total duration of TPN averaging approximately three weeks, and a duration of stay in the NICU averaging four to five weeks (68). Infants with complicated gastroschisis have a longer dependence on TPN and an increased susceptibility to recurrent sepsis and PNALD (72).

Survival outcomes also vary depending on the type of gastroschisis, with overall survival rates well over 90% for simple gastroschisis and neurological development comparable to matched cohort results (75). However, newborns with complicated gastroschisis tends to have a lower median body mass index (BMI) and weight z scores (76). Similarly, another study showed that children with intestinal failure due to complicated gastroschisis were more likely to have cognitive problems at school age than those with simple gastroschisis (77). However, there was no difference in overall quality of life or physical functioning of patients with gastroschisis compared to the general population (77, 78).

With the advancement of medical technology, the prognosis of patients with intestinal failure has improved significantly; likewise, the short-term outcomes of complicated gastroschisis have also been significantly improved, and the organ transplant rate (liver, small intestine) and survival rate are also high, but the dependence on family TPN and nasal feeding has also been significantly improved (79). Some patients develop particularly severe inflammatory bowel injury at birth, and additional surgery may be needed later, such as repair of intestinal atresia or stenosis or secondary bowel injury due to volvulus or necrotizing enterocolitis, eventually leading to short bowel syndrome (80), and, as the most common complication, intestinal obstruction (81). Furthermore, long-term follow-up has found that adult patients with gastroschisis are dissatisfied with the appearance of abdominal scars, especially missing navels (78). However, umbilical preserving operations have long since become standard (82).