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Today prenatal sonographic diagnosis of abdominal defects and stenoses of the intestine is possible without few exceptions during general screening in the 20th week of gestation. In a retrospective study, 56 malformations in this area were investigated, which had been diagnosed at the University Hospital Freiburg during 1973 and 1985. Besides the criteria of sonographic diagnosis the etiology, incidence, prognostic factors, the course of pregnancy and delivery and the postpartal management are described. The rate of direct sonographic diagnosis in this area has increased from 26% up to 91%. The worst prognosis was found in infants with diaphragmatic hernias and exomphalos, whereas infants with stenosis of duodenum and small intestine had the best prognosis.

A coding system that documents the abnormalities within the cloacal exstrophy complex is presented. Analysis allows the classification of these abnormalities into classical and variant series in a logical manner. The application of the coding system to selected reported material is described and it demonstrates the similarities between apparently divergent cases.

At the beginning a systematic presentation of congenital herniations is provided. Corresponding to it, typical sonographic evidences from the number of patients examined at the clinic are shown and discussed. Consequences from prenatal diagnosis of omphaloceles and paromphaloceles--namely in regard to an indication for abortion--result from the existence of associated malformations on the one hand, for the choice of the mode of delivery, on the other, with regard to a postnatal operative correction.

The case presented here is a three-month-old male infant with the Beckwith-Wiedemann's syndrome. Clinically, the patient was characterized by macroglossia, visceromegaly, umbilical hernia, microcephalus and other multiple malformations such as facial flame nevus or ear lobe grooves. The patient died of bronchopneumonia at the age of three months, and an autopsy was performed. Morphological examination revealed adrenal cytomegaly, hyperplasia and hypertrophy of the pancreatic islets, adrenal rest tissue in the right testis or hypertrophy of muscle fibers of the tongue associated with fibrous degenerative change, in addition to bronchopneumonia of the lung, causing his death. On electron microscopical examination, the cytomegalic cell of the adrenal was characteristic of large pleomorphic nucleus and granular substances with high density in the cytoplasm. In this case, thorough histologic search revealed no evidence of tumorous growth in the organs, though the exomphalos-macroglossia-gigantism syndrome has been of interest in its relationship to the occasional occurrence of Wilms tumor, adrenal carcinoma or other tumors.

The present investigation supports the view that omphalocele and gastroschisis are two different congenital malformations. They differ not only anatomically but also regarding the incidence of concomitant malformations, sex ratio and maternal age. There has been a significant increase in the incidence of gastroschisis in Sweden during the period 1965--1976 but no corresponding increase in the incidence of omphalocele. The incidence of abdominal wall defects in stillborn is twenty times higher than in liveborn children.

Twelve of 13 patients with Beckwith-Wiedemann syndrome were found to have cardiovascular abnormalities: congenital heart disease in 7 of the 12 and isolated cardiomegaly in the others. No specific type of cardiac abnormality predominated.

Reported is the analysis of morbidity, mortality, and mode of delivery in 38 cases of ventral wall defects identified from among 128,500 consecutive live births in Maine (January 1975 to December 1982). Thirteen of the ventral wall defects were classified as gastroschisis, and only one had an additional defect not directly attributable to the ventral wall defect itself. By contrast, 16 of the 25 omphalocele cases had additional defects, including eight congenital heart lesions, four genitourinary malformations, two neural tube defects, and three trisomies. Ten cases of omphalocele and one of gastroschisis died, all as a result of independent defects or involvement of adjacent structures. Intrauterine growth retardation was prominently associated with gastroschisis. Vaginal delivery occurred in three of the six ventral wall defects diagnosed antenatally and in 28 of the 32 ventral wall defects not diagnosed until delivery. The only episode of birth trauma to ventral wall defect sac or abdominal viscera occurred during cesarean section in an undiagnosed case. The present data provide a basis for prognosis and management of antenatally diagnosed ventral wall defects and suggest that these defects are not, a priori, an indication for abdominal delivery.

During the second pregnancy of a 31-year-old patient, who already had a child with hydrocephalus, the ultrasonic scan at 16 weeks gestation demonstrated the possiblity of triplets. Raised amniotic fluid and maternal serum alpha-fetoprotein concentrations were observed at 16 and 17 weeks gestation. The pregnancy was terminated at 17 weeks gestation and one of the fetuses had an extensive omphalocoele, radial aplasia and digital abnormalities.

An infant with the Beckwith-Wiedemann syndrome is described, with emphasis placed on the occurrence of macroglossia and possible maxillofacial deformities. In addition to placing the syndrome among the clinical entities which result in macroglossia, attention is also brought to concurrent metabolic disorder through hypoglycemia and possible late-occurring visceral malignancy which may produce significant patient compromise.

The association of total anomalous pulmonary venous drainage and Tetralogy of Fallot is a rare occurrence; only six cases have been reported and only in one of these was the pulmonary drainage by the infracardiac route. A further such case is reported in a girl twin, with cleft palate and umbilical hernia and a normal spleen, who died at the age of three weeks and the clinical and post mortem features are described. The masking effect of the pulmonary outflow stenosis on pulmonary venous obstruction is discussed together with the relevance to clinical diagnosis and surgical intervention as "palliative" surgery may be dangerous.

Ventricular diverticulum in association with exomphalos is rare. It is usually accompanied by split sternum, anterior pericardial and diaphragmatic defects and intracardiac abnormalities. This paper reports a neonate who presented with exomphalos and was noted to have a pulsating vessel, on the superior margin of the sac, which proved to be a left ventricular diverticulum. The successful correction is described.

Omphaloceles are congenital malformations with herniation of the abdominal viscera into the umbilical cord. The incidence in newborns is 1:4300, the sex ratio 1.24:1 in favour to boys. Children with this malformation are neither more frequent at the beginning nor at the end of the sibship; the average maternal age is not increased. In about 50% other different malformations are found. All those omphaloceles, which are found as an obligatory symptom in the EMG syndrome (Wiedemann-Beckwith syndrome) to be probably in most cases autosomal recessively inherited or which are seen within a chromosomal malformation syndrome are of etiologically known origin. Omphaloceles without other malformations are mainly sporadic, less frequent in sibs, possibly due to a polygenic or multifactorial mode of inheritance. Findings in population genetics and animal experiments suggest that exogenous factors, too, can be the cause of malformation syndromes with omphaloceles.

A retrospective descriptive study of omphalocele and exstrophic defects of the abdominal wall was carried out in Manitoba to determine the prevalence of these defects, changes in birth incidence with time and their etiologic heterogeneity. The incidence of isolated omphalocele was similar to that reported in other series but the overall incidence of other types of abdominal wall defects was high. Cloacal exstrophy, bladder exstrophy and amnion disruption defects contributed significantly to the number of cases ascertained and emphasized the heterogeneity of abdominal wall defects. There were fluctuations in birth incidence with time with cloacal exstrophy especially apparently being more common in 1980-81. No specific demographic or environmental factors were documented in the cases seen in 1980-81 which could explain the high incidence in these years. Cloacal exstrophy is, however, now appreciated to be much more common than first realized. Studied directed at elucidation of the causes of apparent changes in incidence of malformations such as omphalocele or exstrophic defects will have to take into account both the fluctuations in background incidence of these defects and the considerable diversity in their etiology.

In this report, a patient with an interesting umbilical anomaly has been presented. There was a skin projection on the right side of the normal umbilical cord and a sac was extending from there. The sac contained some intestine and abdominal musculature was found normal. These findings revealed us to define the anomaly as "pregastroschisis".

A new observation of Becwith's syndrome is presented. Being a still birth a pathological study could be accomplished. Pathologycal findings are commented.

Ventral abdominal defects are frequently diagnosed by prenatal ultrasonography. This review of 47 infants with ventral defects was designed to determine the effect of prenatal diagnosis on neonatal outcome. All nine infants with prenatal diagnosis were delivered by cesarean section at tertiary level hospitals. Only 13 (34%) of 38 infants with unsuspected defects were delivered by cesarean section and 15 (39%) were delivered at tertiary level hospitals. There was no difference in mortality between infants with prenatal diagnosis (44%) and those with unsuspected defects (37%). Increased mortality correlated with the presence of other major anomalies (79% mortality), with birth weight less than 1500 gm (80%), and with omphaloceles (65%). We conclude that infants with other associated defects or with birth weight less than 1500 gm have poor outcomes and cesarean section may not be justifiable. However, in larger infants without other anomalies, prenatal diagnosis was followed by cesarean section and a good prognosis.

Knowledge of the embryonic developments of the umbilicus and its contents assists the physician in correctly assessing the various anomalies found in this area. Although some will require specialized facilities and care, the majority of these anomalies can be corrected by simple operative means.

A case of severe pulmonary hypertension following the primary repair of an omphalocele in a term infant is reported. There were no pre-disposing factors known to contribute to the postoperative pulmonary hypertension (PPH). Therapy was successful first by using hyperventilation, and then subsequently with tolazoline. Upper gastrointestinal bleeding limited the use of tolazoline after the first fourty-eight hours. Complete recovery ensued. The occurrence of PPH and the current therapy of this unpredictable condition is discussed.

A patient with Beckwitt-Wiedemann's syndrome is described in which associated malformations were hemihypertrophy of the body, medullary sponge kidneys and absence of testes and internal ducts. On the other hand, we demonstrated biochemically the existence of testosterone secretion, with active response to a 3-day HCG stimulation as well as prepuberty levels LH and FSH. This demonstrated the existence of functioning Leydig's cells. The diagnosis of agonadism and anorchia could not be entirely true since they lead to an erroneous conclusion that there always are some disseminated Leydig's cells.

Ninety-six cases of exomphalos or gastroschisis managed at The children's Hospital, Sheffield, during the period 1964-74 are analysed. There were 306 cases with minor lesions, 30 with major lesions, 27 with a ruptured exomphalos and only 3 with gastroschisis. The overall mortality rate was 46-9 percent. Survival could be closely correlated with the birth weight, the nature of the primary lesion, the presence or absence of liver within the sac and the presence and severity of associated congenital anomalies. A "scoring system" based on these criteria is proposed to predict the prognosis of an infant with an exomphalos.

A classification for infants born with an omphalocele is proposed that is based on the recognition of four syndromes and two common associated anomalies. The recognition of these syndromes and anomalies in our newborns with an omphalocele provided a better estimate of expected mortality and morbidity than the size of the omphalocele, preoperative rupture, delay in treatment, or low birth weight. This classification should aid the physician in determining priorities regarding the timing and type of treatment for the omphalocele itself.

Bladder duplication is a rare anomaly. Less than 100 cases of all types have been described in the literature. When duplication of the bladder occurs, it has previously been described as a mirror image or as a septate bladder. A newborn female presented with what appeared to be a complete bladder exstrophy, a large ruptured omphalocele with perforated large bowel, an imperforate anus, and a bifid clitoris. Urine was seen emanating from various sites: the bladder mucosa, the mucous fistula constructed at the time of the colostomy, and the left hemiclitoris. The anatomic puzzle was resolved when multiple studies disclosed the problem to be a bladder duplication. The bladder on the anterior abdominal wall was exstrophied, the intraabdominal bladder was a cloaca, and the left hemiclitoris contained a phallic urethra, which drained the intraabdominal bladder. Total correction with normal function was obtained. This patient demonstrates that bladder duplication may present in various ways.

A series of 28 patients is presented with the two conditions of omphalocoele and gastroschisis treated over a five-year period . Improved survival can be obtained by the use of staged procedures with a silastic prosthesis plus intravenous alimentation with later definitive operation. If peripheral veins are used, serious complications are almost totally avoided. This combined form of therapy is the treatment of choice in infants with massive defects in the abdominal wall.

A series of 100 patients with gastroschisis and omphalocele is presented. It is emphasized that gastroschisis generally has a strikingly homogeneous clinical presentation, while the omphalocele has a more heterogeneous clinical presentation, varying from the smallest to the largest, nearly incorrectable type. The main problem in the two groups is the problem of the closure of the defect. In gastroschisis there are, in addition, two problems related to the length of the intestinal tract and the tendency to peritonitis and septicaemia. In omphalocele, however, the major problem is the associated anomalies. The experience from the present material indicates that greater efforts must be used in the future in trying to avoid hypothermia, both during transportation and during operation. Furthermore, greater efforts must be made in closing the abdominal wall defect primarily in both groups of patients. More liberal use of respirator and total parenteral nutrition, mainly by peripheral veins, has obviously contributed to the improvement in our results from 1 60% mortality rate in the first nine-year period to a 37% mortality rate in the last nine-year period in the omphalocele group. Our best results have been obtained during the last 3 years with 2 deaths in the last 12 patients who all were treated by primary closure. In the gastroschisis group a survival rate of 69% in the whole series and of 74% in those who were primarily completely closed must be looked upon as progress in the light of earlier reports of survival rates of 36% to 43%.