Gastroschisis and omphalocele: treatments and long-term outcomes
Between February 1994 and April 2004, we treated 40 children with gastroschisis and 26 children with omphalocele. We recorded the course of pregnancy, pre- and post-natal complications, delivery, operation, post-operative therapy, and long-term outcomes. Additionally, we conducted follow-up examinations of 37 of these 66 children (56%). We analysed their abdominal musculature, development, cosmetic result and quality of life. The median duration of follow-up was 6.3 years (range 1–10). In 35/40 children (88%) with gastroschisis and in 18/26 children (69%) with omphalocele, there had been prenatal diagnosis. The average maternal age of 23.9 years in the gastroschisis group was lower than in the omphalocele group (29.9 years). Delivery was by caesarean section in 93% of the gastroschisis group and 65% of the omphalocele group. Outcomes following vaginal delivery were no worse than those after caesarean section. Further, congenital abnormalities were shown in 28% of gastroschisis cases, and were limited to the gastrointestinal tract. Of the omphalocele cases 81% showed further abnormalities. Direct closure of the abdominal wall defect was possible in 31/40 (78%) of the gastroschisis cases and 15/26 (58%) of the omphalocele cases. Mortality in gastroschisis was nil; two children with omphalocele died (8%). Outcomes were better after primary closure than in stepwise reconstruction. Follow-up showed good results in all categories. Developmental delays were rapidly made up after treatment, and 75% of the children had no gastrointestinal problems, or suffered from these rarely. Almost all the children were of normal weight and height, and physical and intellectual development were delayed in only one third of the children. The surgical scar was rated as good or very good in about 80% of the cases. Except for those with severe defects, the children had good ratings for quality of life. Improvements in short-term results of gastroschisis and omphalocele treatment can be attributed to recent developments in prenatal diagnosis and the advancements of centralised perinatal care. Our long-term results clearly demonstrate that initial gastrointestinal problems and developmental delays were made up during the first two years of life. Prenatal counselling can now be more optimistic.
KeywordsOmphalocele Gastroschisis Long-term outcome Quality of life Prenatal counselling
Omphalocele and gastroschisis are the commonest defects of the anterior abdominal wall, with an incidence of 17 and 22 per 100,000, respectively [1, 2]. Gastroschisis is a cleft in the abdominal wall which develops in utero, with prolapse of the organs. It lies to the side of the umbilical cord, usually on the right [2, 3, 4, 5, 6]. There is almost always intestinal prolapse, but prolapse can also involve the liver, stomach, urinary bladder, spleen or genital organs [4, 7]. The exact aetiology and time of occurrence remain controversial. Studies often describe gastroschisis as commoner in very young mothers [1, 3, 8]. Additional abnormalities are rare in gastroschisis and usually limited to the gastrointestinal tract [2, 4, 9, 10]. Gastroschisis can be diagnosed on 3D transvaginal ultrasonography in the first trimester of pregnancy, at a gestational age between 19 and 21.5 weeks [2, 4, 11, 12, 13]. There is controversy over the preferred method of delivery . The reported rate of caesarean delivery in cases of prenatal gastroschisis diagnosis varies from 28 to 96.6% depending on which report you read [1, 3, 14, 15]. Gastroschisis should be corrected as soon as possible after delivery . Most reports describe primary closure of the abdominal wall as the treatment of choice [7, 16], but care must be taken to avoid intra-abdominal pressures higher than 20 cm H2O . Primary closure can be achieved in 67% of cases [4, 8, 11, 16, 18]. If this is not possible, the abdominal wall can be closed using an artificial patch [19, 20]. Complications during the initial inpatient episode are commonly attributable to prematurity and low birth weight. Ileus can occur. Gastrointestinal problems also predominate in the later post-operative period. Long-term studies of gastroschisis are rare, but suggest that physical and intellectual development is usually unimpaired [21, 22]. There has been a decline in mortality, and the literature of the past six years gives rates between 2.4 and 5.3% [6, 9, 11, 23, 24].
Omphalocele is also a defect of the anterior abdominal wall. Unlike gastroschisis, the prolapsed organs are always covered in a protective membrane . This omphalocele sac consists of amnion, peritoneum and so-called Wharton’s jelly. The umbilicus inserts into the sac [2, 24, 26]. There is almost always intestinal involvement, but other organs can also prolapse [7, 8, 26]. There are no known specific risk factors. Omphalocele is frequently seen in the context of congenital syndromes, with multiple associated anomalies, such as Beckwith–Wiedemann syndrome, cloacal exstrophy, OEIS complex (omphalocele, exstrophy, imperforate anus, spinal), Cantrell’s pentalogy and trisomies [7, 8, 9]. Cardiac anomalies are described in 13% [1, 8, 10, 12, 16]. Other chromosome abnormalities and pulmonary hypoplasia are also associated with these defects [10, 16]. Omphalocele can also be diagnosed prenatally, with a sensitivity of 75–79% . Prenatal diagnosis is advisable because of the associated syndromes. Children with prenatally diagnosed omphalocele are delivered by caesarean section in 80% of cases, allowing the omphalocele sac to be better protected from rupture [7, 8, 27]. Nevertheless, several studies have shown no difference in outcome between vaginal and caesarean delivery [12, 28]. Operative technique for repair is similar to that for gastroschisis. Large omphaloceles mostly require artificial material for closure [7, 8, 16]. The incidence of complications is strongly dependent on the associated anomalies. Problems result from the cardiac, neurological, skeletal or urogenital anomalies, and are rarely attributable to the omphalocele alone [16, 24, 26]. Children with chromosomal defects such as trisomy have a higher complication rate and a poor or fatal outcome. Complications of the omphalocele repair itself include respiratory impairment, wound infections, ileus, delayed introduction of oral feeding and gastro-oesophageal reflux [7, 8, 29]. In children with omphalocele alone, physical and intellectual development is reported as unimpaired . The mortality from omphalocele is higher than that in gastroschisis. The literature of the past years gives rates of between 12 and 29% [2, 7, 8, 9, 10, 12, 17, 24, 27].
Materials and methods
This retrospective analysis comprises children with omphalocele and gastroschisis (ICD-10 codes Q79.2 and Q79.3). We recorded the course of pregnancy, pre- and post-natal complications, delivery, operation, post-operative therapy, and long-term outcomes. We included patients undergoing surgery in the Department of Paediatric Surgery of Erlangen University Hospital between 1994 and 2004, with follow-up extending until April 2004. There were three standardised data collection forms. Structured follow-up examinations were possible in 37 children (56%), 22 with gastroschisis and 15 with omphalocele. In 12 cases the actual address was not available, 15 patients did not answer the questionnaire. We analysed abdominal muscle function, development, cosmetic results and quality of life. The duration of follow-up was up to 10 years.
Statistical analysis was carried out using Microsoft Excel and SPSS Version 13.0. The data were summarised using means, standard deviations and percentiles. We used 95% confidence intervals in significance testing.
Prenatal diagnosis was made in 35/40 (88%), on average in the 28th week of gestation. Amniocentesis was carried out in 13/40 cases (33%), showing a normal karyotype in all cases. The average age of the mothers of children with gastroschisis was 23.9 years.
Anomalies associated with gastroschisis and omphalocele
Gastrointestinal anomalies total
Small bowel atresia
Cardiac anomalies total
Closure methods in gastroschisis and omphalocele
Direct closure total
Artificial materials total
Durapatch and vicryl mesh
Schuster plasty (silo)
Half of the children (20/40) had a subsequent inpatient episode, of whom seven (35%) had a further operation attributable to the initial diagnosis, e.g. short-bowel-syndrome or adhesive bowel obstruction.
Follow-up was available in 22 children. Only 7.1% of the children were reported as having frequent gastrointestinal problems, and 77.4% had these rarely or never. Concerning physical exercise, there were problems in only 2 of the 22 patients studied (9%), with one child feeling restricted in sporting activities (4.5%). Cosmetic results regarding scarring were described as excellent or good in 82%.
Five children (23%) had had umbilical reconstruction by the time of follow-up, and 17 children (77%) said they had no umbilicus. Four of the 17 (24%) were troubled by the lack of an umbilicus, and were between 6 and 10 years old. Seven children (41%) were unconcerned. Six children (35%), however, were felt to be too young for this to be assessed. Three patients had an abdominal wall hernia (aged 2, 4 and 9 years) and reported that there were no plans for surgical correction of this. Seventeen children reported no hernia, and in two cases the information was not given. Seven children (32%) had delayed sitting or walking. Fifteen children (68%) had achieved these milestones normally. Seventeen of the 22 (77%) had started kindergarten or school at the usual age. Only one girl was not attending kindergarten at the age of 3 years 6 months, because of developmental retardation and amblyopia. The weight of only two children (9%) was below the third percentile, and the height of only three children (14%) was below the third percentile. These three patients were very young and developmental delays were made up at the first two years of life. None of the gastroschisis children died.
Eighteen of the 26 omphaloceles were diagnosed prenatally, at a mean gestational age of 22.8 weeks.
Amniocentesis was carried out in 14/26 cases (54%) and the karyotype was normal in all cases. In eight patients, the diagnosis was not known before and accordingly no karyotype analysis was done. The mean maternal age at birth was 29.9 years.
Nine of the 26 children were born by spontaneous vaginal delivery, and of these six had not been diagnosed prenatally. In seven cases (26.9%) an emergency caesarean section was indicated for multiple reasons (premature amniorrhexis 42.8%, premature labor pain 14.3%, bradytocia 14.3%, other obstetric indications 28.6%). In 10 patients (39%) an elective section was performed because of the omphalocele. The mean gestational age at delivery was 38.8 weeks, and 7/26 (26.9%) births were premature by WHO criteria. The mean birth weight was 2.98 kg. There was prolapse of bowel in all cases, of the liver in 11 cases (42%), and of the spleen in one case (4%). There were associated malformations in 21/26 (81%), which were not confined to the gastrointestinal tract (Table 1). One child had Patau syndrome (trisomy 13).
In 15/26 cases (58%), direct closure of the abdominal wall was possible without using artificial material (Table 2). In 25 cases (96%) additional surgical procedures were carried out. The umbilicus was reconstructed in 9/15 children having direct closure (60%). The mean operating time was 138 min (for direct closure 90 min, for closure with artificial material 255 min). The mean length of the first inpatient episode was 29.1 days, with mean duration of ventilation 4.5 days. There were complications in 19/23 children (82.6%). The commonest were wound infections (4/26, 15%), sepsis (3/26, 12%) and ileus (3/26, 12%). Oral feeding was introduced without complication in 12/26 (46%), and with difficulty in 6/26 (23%). For 8/26 (31%) this information was not available. Re-operation during the initial inpatient stay was required in 8/26 children (31%). Fifteen children (58%) had subsequent stays in hospital. Twelve (46%) had further surgery, and multiple operations were necessary in several cases because of additional malformations.
Fifteen omphalocele patients were available for follow-up examinations. Only 10% of the children questioned about gastrointestinal disturbances reported frequent difficulties, and in 75% difficulties were rare or absent. Concerning body movements, there were problems with everyday activities in only 1/15 patients (7%), and two children (13%) felt their sporting activities were limited. Cosmetic results regarding scarring were reported as excellent or good in 73%, and satisfactory in 27%. Five children (33%) had had umbilical reconstruction at the time of follow-up, and nine (60%) said they did not have an umbilicus. In one case the information was not given. Of the nine without an umbilicus, only one child reported suffering because of the lack of an umbilicus. All the remaining families said their child was unconcerned. Three of the nine children wished to have later umbilical reconstruction, two of the patients/parents did not, and four were undecided. Three patients (20%) reported a hernia of the anterior abdominal wall, and were at the time 3, 5 and 9 years old. In two cases a further procedure was planned to correct the hernia. Ten children (67%) reported no hernia, and there were two null responses (13%). Four children (27%) had delayed development of sitting or walking. Eleven families (73%) said their children had started sitting and walking at the appropriate age. Fourteen of the 15 patients (93%) had attended kindergarten or school at the usual age. Only one girl (7%) had not started kindergarten at the age of 4 years 8 months because of retardation. Only three children (20%) had a weight under the third percentile, and two children (13%) were under the third percentile for height.
Two children died (8%). The first child was a boy born prematurely at 31 weeks by caesarean section. The omphalocele was diagnosed prenatally, was very large and ruptured at delivery. The prolapse consisted of small and large intestine and liver. The operation was carried out immediately after delivery. Because of the size of the defect, direct closure was impossible and a vicryl mesh was implanted. After surgery circulatory support with high doses of catecholamines was necessary. In the post-operative period the catecholamine dose continually had to be increased. The patient developed metabolic acidosis and a coagulopathy, with anaemia and thrombocytopaenia. The patient also developed intraventricular and parenchymal haemorrhage. In spite of maximal intensive therapy his clinical condition worsened and he died in circulatory shock on the first day.
The second child was a girl born prematurely at 36 weeks 6 days. The omphalocele was also diagnosed prenatally in this case, and the child was delivered by elective section. The omphalocele was 10 cm in diameter, and contained bowel and liver. There was hypoplasia of the lungs, and there were also ventricular and atrial septal defects. The omphalocele was closed with a Durapatch and vicryl mesh. The patient then developed massive pulmonary infection and abscesses, requiring pneumonectomy. She died at the age of 38 days from cardiorespiratory failure secondary to recurrent pulmonary infections and abscesses.
Congenital abdominal wall defects can now be detected in 75–80% of cases by improved ultrasound techniques [2, 12]. In our cohort all patients had ultrasound; gastroschisis was detected prenatally in 35/40 (88%) and omphalocele in 18/26 (69%).
The exact aetiology of these anomalies and the associated risk factors remain controversial. Gastroschisis is associated in the literature with very young maternal age [1, 3, 8]. This was also shown in our patients, as the gastroschisis group had significantly younger mothers than the omphalocele group (mean 23.9 versus 29.9 years). Other risk factors claimed in the literature, such as high maternal nicotine or cocaine consumption , were not shown in our patients. We showed no evidence of a familial tendency to either omphalocele or gastroschisis, as the family history was negative in all cases and all siblings were healthy.
Isolated gastroschisis or omphalocele is not now considered an indication for termination of pregnancy, in view of the advances made in treatment and the good long-term prognosis . If however there are severe associated anomalies, continuation of the pregnancy should be discussed with the parents by the obstetricians, paediatricians and paediatric surgeons. These severe anomalies are predominantly seen in association with omphalocele [2, 7, 8]. Further anomalies need to be excluded when omphalocele is diagnosed prenatally. The possibility of amniocentesis or chorionic villus sampling should be discussed with the parents, in order that chromosomal defects can be detected early.
The preferred mode of delivery is also controversial. According to the literature, 53% of children with gastroschisis and up to 80% of children with omphalocele are now born by caesarean section [7, 8]. Some authors advocate that routine section is not justified .
In our cohort of patients, 93% of the children with gastroschisis and 65% of the children with omphalocele were delivered by caesarean section. Of those delivered vaginally, 2/3 with gastroschisis and 6/9 with omphalocele were not diagnosed prenatally. Of those diagnosed prenatally, 34/35 children with gastroschisis (97%) and 15/18 children with omphalocele (83%) were delivered by section. In our analysis we could see the same tendency, as stated in the most reports, that there is no improved outcome as a result of section, but unfortunately our data did not provide a significant number of cases to come to a reliable statement. It must be borne in mind that 41% of these caesarean sections were indicated for maternal or fetal reasons other than the anomaly itself. These children would not have benefited from vaginal delivery. The presence of either abdominal wall anomaly increases the risk of delivery . Optimal treatment for affected children is the aim. A planned delivery during daytime hours, with all facilities available, is to be preferred. This is more readily achieved by caesarean section than vaginal delivery. An abdominal wall defect should be closed immediately after delivery. Most of our patients had direct abdominal wall closure without the use of artificial materials. This could be achieved in 78% of gastroschisis and in 58% of omphalocele, and these rates are similar to those previously published [4, 8, 11, 16]. We compared outcomes by analysing the length of stay, duration of respiratory support, introduction of oral feeding and rate of post-operative complications. Both in gastroschisis and in omphalocele the best results were achieved in cases where direct closure was possible.
We agree with the literature that direct closure is the treatment of choice. If however the ventilation pressure during surgery exceeds 20 mmHg, there are signs of kidney failure or there is lividity of the lower limbs indicating venous stasis, artificial material should be used primarily, or as soon as these signs occur in the further course, rather than proceeding with direct closure. The abdominal wall can then be reconstructed in a further procedure. Alternatively, a silo technique can be employed, as described in the literature [1, 4, 11, 31, 32]. Some surgeons are now using a precast silo in case where direct closure is not possible. This silo covers the extra abdominal organs and prevents them from infection or loss of fluids. After a few days, organs decongest, and direct closure without using artificial materials is possible.
In our department we started to use this practise in some cases and the results seem to be good, but it is not possible to give a clear statement by now.
The mortality of these conditions has decreased markedly in recent years. This is attributable to improved prenatal diagnosis and also to advances in surgical technique. By treating mother and child in a perinatal centre, the delivery and subsequent therapy can be planned and delivered in an interdisciplinary fashion.
Mortality in omphalocele is mainly attributable to the associated anomalies. In our cohort no child died from associated anomalies, but no follow-up information was available for one child with Patau syndrome (trisomy 13). In the literature, 61% mortality is reported for omphalocele with associated anomalies, in contrast to only 15.5% without. We were not able to confirm these figures owing to our small number of cases.
Isolated gastroschisis or omphalocele is not an indication for termination of pregnancy.
A careful search for associated anomalies and chromosomal defects should be undertaken, especially in cases of omphalocele.
Direct closure is the aim but, where there is evidence of rising intra-abdominal pressure, repair with artificial implants is advisable.
Normal physical and intellectual development can be expected, except where there are severe additional anomalies or chromosomal defects (e.g. trisomy). The abdominal defects do not in themselves impair quality of life.
Post-operative problems (gastrointestinal and wound-related) usually resolve with time, with no long-term ill-effects in the vast majority of patients.
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