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[Prenatal ultrasonic diagnosis of developmental abnormalities of the organs of the digestive system].

Analysis is made of the results of ultrasound diagnosis of developmental abnormalities of the alimentary tract. It has been established that the information content of echography is dependent on the anatomic intensity of an abnormality and the period of pregnancy at which the examination was done. It has been shown that the method is not of high diagnostic significance in revealing developmental abnormalities of the upper lip and hard palate, atresia of the esophagus, large intestine and rectum. At the same time atresia of the duodenum, small intestine, omphalocele, gastroschisis, diaphragmatic and inguino-scrotal hernia are detectable in practically 100% of cases. The authors provide echograms of the majority of abnormalities, indicate the minimal times of detection, analyze the causes of diagnostic errors.

Congenital Abnormalities

Symptomatic congenital lesions of the alimentary tract in adults.

Congenital anomalies of the alimentary tract can evade detection into adulthood because they cause only moderate symptoms or they escape purview of a prepared observer. In other instances, evolution or copathogenesis may need to occur before the lesions become manifest. We have managed 17 of these patients presenting at ages 23 to 71 years. The median duration of symptoms was 5 years, ranging from 1 months to 23 years. Defects of foregut embryogenesis predominated (71%). We were able to establish the correct diagnosis before operating on nine patients, but three had already had a previous celiotomy for the same problem so a truly preoperative diagnosis was possible in only six (35%). The literature validates the dominance of foregut anomalies in adults. There is no older age limit that would exclude consideration of these lesions. Endoscopy, computerized tomography, and ultrasonography have greatly facilitated recognition, but our experience suggests that the principal obstacle to timely diagnosis is the reluctance to consider a congenital cause for an adult's symptoms.

Adult

Acrorenal syndrome: further observations.

A 23-year-old female patient with the acrorenal syndrome is described. In addition to acral and renal malformations, she had anomalies of the gastrointestinal and genital tracts. An annular pancreas had caused duodenal obstruction and had been associated with malrotation of the bowel. Secondary sexual characteristics were absent; no ovaries were identified by pelvic ultrasound, and endocrine investigations were compatible with non-functioning ovaries.

Abnormalities, Multiple

[Fortuitous discovery in echography of an isolated fetal intra-abdominal hyperechogenic mass. 87 cases].

Having seen 87 cases we will now attempt to refine the management to be carried out when intra-abdominal hyperechogenic masses are found in the fetus. Before the 20th week of amenorrhoea (47 cases) amniocentesis can be used to study the digestive enzymes to determine the fetal karyotype. The normal results for intestinal enzymes makes it possible to rule out fetal cystic fibrosis. Three karyotype abnormalities were found in this series. After the 20th week (40 cases) intestinal enzymes cannot be interpreted. The diagnosis of cystic fibrosis then must rely on Delta F 508 mutation; but the absence of this mutation does not exclude cystic fibrosis. When ultrasound signs of intra-abdominal hyper-echogenicity are found the diagnosis of cystic fibrosis should not be thought of first, because in this series the majority of fetuses who had this sign were born without any malformation. Four cases of cystic fibrosis that were confirmed have been found but equally there were other serious malformations, three chromosome abnormalities, four intestinal atresias, ten unexplained intra-uterine deaths and one case of biliary duct atresia.

Amniocentesis

Gastrointestinal anomalies associated with esophageal atresia or tracheoesophageal fistula.

A retrospective analysis of 150 consecutive patients with esophageal atresia and/or tracheoesophageal fistula was undertaken. The incidence and variety of gastrointestinal (GI) anomalies, the method of management, and the cause of death were critically reviewed to outline preferred methods of management. Of these patients, 87 were male and 63 female. There were 62 GI anomalies in 40 patients. The most common GI anomalies included anorectal anomalies in 17 patients, malrotation of the midgut in 13 patients, duodenal atresia or stenosis in ten patients, and annular pancreas and ectopic pancreatic tissue in three patients each. Six patients had the combination of tracheoesophageal fistula, duodenal obstruction, and anorectal anomaly. Of the 150 patients, 23 have died, with 15 deaths occurring in those with associated GI anomalies. The GI anomalies contributed directly to the deaths of five of these 15 patients. Delay in diagnosis and, on occasion, improper initial management resulted in increased morbidity and mortality.

Abnormalities, Multiple

Tracheoesophageal fistula, gastrointestinal abnormalities, hypospadias, and prenatal growth deficiency.

We studied 2 sibs, born to consanguineous parents, who presented with an MCA pattern which includes low birthweight, tracheoesophageal fistula, duodenal atresia, extrahepatic biliary atresia, hypoplastic pancreas, and hypospadias. This constellation of congenital anomalies appears to be a previously unreported autosomal recessive syndrome. A computerized search of the data files of the Spanish Collaborative Study of Congenital Malformations (ECEMC) identified 3 other unrelated infants with intestinal atresias, hypospadias, and low birth weight. These cases may represent a milder expression of the same syndrome.

Abnormalities, Multiple

Congenital diaphragmatic hernia (Bochdaleck) with special reference to the prognostic influence of congenital cardiac and gastro-intestinal anomalies.

Of 29 patients with hernia Bochdaleck there were 11 in the non surgical group and 18 in the surgical group. 14 were operated in the first 24 hours of life, and 4 patients after that time. No patients in the non-surgical group survived. In patients who were operated upon in the first 24 hours of life, 5 survived, and after that time 3. In all cases the transthoracic approach was used. The investigation did not permit any safe judgement of the preoperative treatment. On these conditions multiple anomalies combined with prematurity and intrauterine asphyxia had some influence on, whether a patient lived so long, that an operation could take place. Gastro-intestinal anomalies had a certain prognostic significance in the postoperative period. In cured patients the severity of a complicating cardiac failure could be of some importance.

Abnormalities, Multiple

alpha-Fetoprotein levels in pregnancies complicated by gastrointestinal abnormalities of the fetus.

alpha-Fetoprotein (AFP) levels have been measured in maternal serum and amniotic fluid in a variety of gastrointestinal abnormalities of the fetus. Maternal serum AFP levels were consistently elevated in abdominal wall defects of the fetus after 15 weeks gestation and the amniotic fluid levels were raised in 3 of the 4 patients measured. In atresia of the gastrointestinal tract and diaphragmatic hernia, serum AFP levels were usually normal unless there was an associated neural tube defect or multiple pregnancy, although the majority were not measured between 15 and 26 weeks gestation. If elevated amniotic fluid levels of AFP are used in the decision to terminate pregnancy on the assumption of a probable neural tube defect of the fetus, a proportion of terminations will be performed because of abdominal wall defects of the fetus.

Abdominal Muscles

Congenital structural abnormalities in biliary atresia: evidence for etiopathogenic heterogeneity and therapeutic implications.

The clinical, surgical, laboratory and histological data of 237 children with extrahepatic biliary atresia were reviewed. Forty-seven patients (20%) had associated congenital anomalies, and of these, 28 had cardiovascular, 22 digestive and 19 splenic malformations. Of the 19 patients with splenic malformations, 13 showed the polysplenia syndrome and two had asplenia. Chromosome studies were performed in eight children, six having associated anomalies, and two of them showed karyotype abnormalities (46,XX,del 18 p- and 49,XXXXY). These observations indicated that biliary atresia could be subdivided into four distinct etiopathogenic subgroups, three involving a congenital form that could arise through a malformation, a disruption or a chromosome abnormality, and the remaining to agents active in the perinatal period (the acquired form). The surgical outcome in 171 patients operated on by an experienced surgeon was not influenced by the presence of anomalies but by the timing of surgery. Seventy-one percent of 24 patients operated on by 8 weeks of age were jaundice-free as opposed to only 34% of those who had later surgery (p less than 0.01).

Abnormalities, Multiple

[Intestinal hemorrhage in a milk-fed infant: a case of laryngo-tracheo-gastric duplication].

An important gut hemorrhage in a breast fed child is not a usual event. If, in addition, the etiology represents a real rarity, even the most sophisticated diagnostic trials can't give any aid and this constitutes a hard diagnostic and therapeutic problem. In this report, the authors describe how, after a long sequence of analysis and exams, no certain diagnosis was possible, till serious anaemia gave indication to an explorative laparatomy. Laparatomy became both diagnostic and therapeutic and allowed to discover a rare malformation: a tracheal-gastric duplication.

Abnormalities, Multiple

Prune belly syndrome: clinicopathologic study of 29 cases.

The clinical course and the pathologic features of 29 patients with the prune belly syndrome (PBS) are reviewed. There were 26 males and 3 females. In addition to the classical triad of deficient abdominal musculature, urinary tract abnormalities, and cryptorchidism, a broader spectrum of other defects was found including musculoskeletal (58%) and gastrointestinal (31%) abnormalities. Genital anomalies were present in all three female patients. Many of these defects may be inapparent at birth, but are the cause of morbidity and mortality later in life. Severe urinary tract maldevelopment and pulmonary hypoplasia as part of the oligohydramnios syndrome was the most common cause of perinatal deaths. In these patients, major portions of the renal parenchyma were dysplastic, but in survivors, renal dysplasia, when present, was minor by comparison, and affected less than 1/3 of the parenchyma. Although several questions remain unanswered, we believe that the PBS results from the effect of one or more teratogenic agents on the somatic mesoderm, producing inappropriate mesenchymal development and inadequate mesenchymal-epithelial interactions that lead to abnormal development and dilatation of some of its derivatives (abdominal muscles, ureter, bladder, prostate, urethra, and gubernaculum). Although abnormalities in derivatives of the intermediate mesoderm (kidney) may also be produced by the injurious agent(s), they are more likely a result of urinary obstruction. Abnormalities in other organs and systems are the consequence of oligohydramnios.

Abnormalities, Multiple

A 94-mm human fetus with the VACTERL association of anomalies.

A spontaneously aborted human male fetus of 94 mm crown-rump length had multiple malformations including atresia of the esophagus with tracheoesophageal fistula, anorectal agenesis, anomalies of the heart and great vessels, kidneys, bladder, and left testis, and a single umbilical artery. This association of defects has not previously been described in a fetus at this immature stage of development.

Abnormalities, Multiple