Analysis of the clinical outcomes of fetal bowel dilatation combined with other abnormal ultrasonographic features.

OBJECTIVES: To explore the significance of fetal bowel dilatation combined with other abnormal ultrasound features in the diagnosis of gastrointestinal malformation. METHODS: A retrospective study of fetuses with bowel dilatation was performed, from August 2012 to October 2015. All the cases were identified from the ultrasound database and all observations of the relationship of prenatal abnormal abdominal ultrasound features and intestinal malformation were performed through the infancy stage. RESULTS: We found 52 fetuses with prenatal suspicion of bowel dilatation. Of these, 20 cases were surgically confirmed to have intestinal malformation, 13 cases had no abnormal bowel loops after birth, 8 cases had abnormal intestinal features while no surgical intervention was performed after birth, 10 cases were lost to follow-up and 1 fetus died in utero at 34 weeks of gestation. Forty cases with full data were divided into three groups, including Group A (Small bowel dilatation combined with other features vs. Isolated small bowel dilatation), Group B (Colonic bowel dilatation combined with other features vs. Isolated colonic bowel dilatation) and Group C (Bowel dilatation combined with other features vs. Isolated bowel dilatation). The intestinal malformation occurrence rates were 73.33% vs. 31.25% in Group A, 50% vs. 25% in Group B, and 70% vs. 30% in Group C. These results suggest that malformation occurs at a lesser frequency in simple bowel dilatation versus bowel dilatation in combination with other abnormal ultrasound features (p = .026), similarly in simple small bowel dilatation versus small bowel dilatation in combination with other abnormal ultrasound features (p = .032). CONCLUSIONS: Prenatal bowel dilatation in combination with other abnormal ultrasound features, especially small bowel dilatation in combination with other abnormal ultrasound features, detected in the second and third trimesters, tended to indicate intestinal malformation, which contributes to enhance the accuracy of prenatal diagnosis of intestinal malformation.

US assessment of neonatal bowel (necrotizing enterocolitis excluded).

US plays a main role in evaluating neonatal gastrointestinal disorders. The authors describe the US appearance of normal neonatal bowel, midgut volvulus, small bowel atresia, meconium ileus, meconium peritonitis, different meconium plug syndromes, Hirschsprung disease, intestinal duplication cysts, some other abdominal cysts, some intraperitoneal infections, excluding necrotizing enterocolitis, and anorectal anomalies. The use of sonography in the imaging diagnostic strategies of these congenital and acquired anomalies is emphasized.

Multiple intestinal atresias associated with angiodysplasia in a newborn.

This is a report describing the association of multiple small bowel atresias with multifocal angiodysplasia of the intestinal wall in a newborn. To the authors' knowledge, such association has never been reported.

Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations.

The increasing number of laboratories offering molecular genetic analysis of the CFTR gene and the growing use of commercial kits strengthen the need for an update of previous best practice guidelines (published in 2000). The importance of organizing regional or national laboratory networks, to provide both primary and comprehensive CFTR mutation screening, is stressed. Current guidelines focus on strategies for dealing with increasingly complex situations of CFTR testing. Diagnostic flow charts now include testing in CFTR-related disorders and in fetal bowel anomalies. Emphasis is also placed on the need to consider ethnic or geographic origins of patients and individuals, on basic principles of risk calculation and on the importance of providing accurate laboratory reports. Finally, classification of CFTR mutations is reviewed, with regard to their relevance to pathogenicity and to genetic counselling.

Intra-abdominal masses: prenatal differential diagnosis and management.

Intra-abdominal masses and cystic lesions are not commonly identified during the routine 20-week anomaly scan but are not infrequently seen as incidental findings during a third trimester scan assessing fetal growth and well being. This review looks at the potential differential diagnosis of masses and cysts seen prenatally and aims to define a method of assessment that will help limit the differential diagnosis before delivery.

Secondary cytomegalovirus infection can cause severe fetal sequelae despite maternal preconceptional immunity.

OBJECTIVES: To describe our experience in cases with sonographic signs of fetal infection and with maternal serological 'immunity' to cytomegalovirus (CMV) infection. METHODS: This was a bicenter study of six pregnant women referred for evaluation of suspected fetal infection. All cases had confirmed maternal serology for past exposure to CMV but no evidence of recent secondary CMV infection. All underwent sonographic evaluation as well as complete investigation for CMV infection. RESULTS: The mean age of the women was 29 (range, 23-35) years and the mean gestational age at diagnosis was 23.5 weeks (range, 20-31) weeks. Sonographic findings included microcephaly, ventriculomegaly, periventricular calcifications and cystic lesions, echogenic bowel, hydrops and hepatosplenomegaly. Amniocentesis was performed in all cases for fetal karyotyping and viral assessment, and all were found by polymerase chain reaction to be positive for CMV infection. Four pregnancies were terminated following the parents' request. One pregnancy continued until intrauterine fetal death occurred 2 weeks after diagnosis. Postmortem was denied in all cases but one. One infant was delivered with evidence of severe cerebral palsy. CONCLUSION: In the presence of sonographic findings suggestive of fetal CMV infection, prompt investigation of amniotic fluid should follow even if maternal serology does not support recent maternal seroconversion.

Western diseases: current concepts and implications for pediatric surgery research and practice.

The term "Western diseases" refers to those conditions that are rare or absent in underdeveloped areas of the Third World and increase in frequency with adoptions of Western customs. In adults, they include such common conditions as coronary artery disease, essential hypertension, appendicitis, cholesterol gall stones, and colon cancer. The best examples of Western diseases in the pediatric population are asthma, allergies, appendicitis, and inflammatory bowel disease. Limited data from sub-Saharan Africa suggest other pediatric surgical conditions may fall into this category, including hypertrophic pyloric stenosis, gastroesophageal reflux, perirectal abscess, anal fissure, gastroschesis, and neuroblastoma. Existing theories for the origins of Western diseases have postulated a role for decreased dietary fiber, improved hygiene, fetal programming, and a protective effect of tropical enteropathy. How these factors might relate to the rise of appendicitis, inflammatory bowel disease, and possibly other common pediatric surgical diseases in industrialized societies remains poorly understood. Further research is needed to better define geographical differences in common pediatric surgical conditions and to investigate how genetic and environmental factors interact to modify risk of disease. Understanding the molecular mechanisms that give rise to Western diseases could lead to new therapeutic and prevention strategies for some of the most common pediatric surgical conditions in industrialized countries.

Choroid plexus cyst, intracardiac echogenic focus, hyperechogenic bowel and hydronephrosis in screening for trisomy 21 at 11 + 0 to 13 + 6 weeks.

OBJECTIVES: To investigate the potential value of choroid plexus cyst, intracardiac echogenic focus, hydronephrosis and hyperechogenic bowel as markers of trisomy 21 at 11 + 0 to 13 + 6 weeks. METHODS: We examined three-dimensional volumes from 228 fetuses with trisomy 21 and 797 chromosomally normal fetuses at 11 + 0 to 13 + 6 weeks of gestation. We looked for choroid plexus cysts with a minimum diameter of 1.5 mm, intracardiac echogenic focus, hydronephrosis with a minimum anteroposterior diameter of the pelvis of 1.5 mm and hyperechogenic bowel. RESULTS: The prevalence of intracardiac echogenic focus, hydronephrosis and hyperechogenic bowel was significantly higher in trisomy 21 than in normal fetuses (9.6% vs. 1.5%, 17.1% vs. 5.3% and 11.4% vs. 2.4%, respectively). There was no significant difference between the two groups in the prevalence of choroid plexus cysts (7.5% vs. 5.0%). There were no significant differences in crown-rump length or nuchal translucency thickness in either chromosomally normal or trisomy 21 fetuses between those with and those without any one of the markers. CONCLUSIONS: At 11 + 0 to 13 + 6 weeks the prevalence of intracardiac echogenic focus, hydronephrosis and hyperechogenic bowel is higher in trisomy 21 than in chromosomally normal fetuses. As there is no significant association between the presence of these markers and nuchal translucency thickness, they could be included in the assessment of risk to improve accuracy of screening.

[Fetal echogenic bowel by ultrasound: what is the clinical significance?].

Echogenic bowel is diagnosed in 0.2% to 1.4% of second trimester ultrasonographic examinations. This finding occurs as a normal variant in the second trimester but also has been associated with several pathologic conditions that include cystic fibrosis, chromosomal abnormalities and in utero infection with cytomegalovirus and toxoplasmosis. Ultrasound assessment of echogenic bowel is usually subjective by comparing the echogenicity with adjacent bone or liver. The diagnosis of fetal echogenic bowel in the second trimester has significant implications for prenatal management. Fetal echogenic bowel should be considered an important marker of placental damage. This finding in the second trimester is strongly associated with adverse pregnancy outcome due to utero-placental insufficiency, particularly in women with elevated maternal serum alpha-fetoprotein concentration due to severe feto-maternal bleeding. This review focuses on the definition and diagnosis of this entity and problems raised by echogenic bowel due to subjectivity of the diagnosis. It also includes the pathophysiology in the different conditions and the prevalence of each condition. Based on this review, we suggest the evaluation that is needed, as well as the recommendations to follow-up, during the remaining term of pregnancy according to the literature.

Amniotic fluid beta-endorphin: a prognostic marker for gastroschisis?

PURPOSE: The aim of this work was to study amniotic fluid beta-endorphin as a potential predictor for postnatal morbidity in gastroschisis. METHODS: Beta-endorphin was assayed in 43 amniotic fluid samples from 13 pregnant women with fetal gastroschisis undergoing diagnostic amniocentesis or therapeutic amnioinfusion and compared with 33 controls. Within the gastroschisis group, the authors investigated the relationship between postnatal morbidity and the peak value of amniotic fluid beta-endorphin (AFBE). RESULTS: Ten AFBE values in 6 cases of gastroschisis were above the upper limit of the 95% confidence interval derived from controls. Postnatal morbidity was significantly higher when peak AFBE exceeded 10 microg/L (n = 4 pregnancies) compared with below 5 microg/L (n = 9 pregnancies), as shown by mean duration of mechanical ventilation (15.2 v 3 days; P =.01), of parenteral feeding (77 v. 18.7 days; P =.04), and of hospitalization (84 v 32.2 days; P =.04). There was no statistically significant association between postnatal morbidity markers and prenatal dilation of fetal bowel. CONCLUSIONS: The most severe cases of gastroschisis are associated with high levels of AFBE. The authors speculate that this fetal hormonal response could result from stress or pain caused by prenatal bowel damage.

Intestinal damage in gastroschisis correlates with the concentration of intraamniotic meconium.

BACKGROUND/PURPOSE: Contact with amniotic fluid (AF) causes intestinal damage in gastroschisis, which has been shown to be caused by intraamniotic meconium. However, whether this intraamniotic meconium-induced intestinal damage is concentration dependent has not been investigated previously. The purpose of this study is to investigate the effects of intraamniotic human meconium at various concentrations on the intestines of chick embryo with gastroschisis. METHODS: Five-day-old fertilized chick eggs were used. Gastroschisis was created through the amniotic cavity without opening the allantoic cavity. Sterile meconium was obtained from newborn humans. Meconium suspensions at various concentrations were prepared using saline and instilled into the amniotic cavity. RESULTS: Intraamniotic 1:200 and 1:400 meconium was found to cause intestinal damage. Meconium concentrations lower than 1:400 did not cause intestinal damage. Histopathologic examination of the intestines of the 1:200 and 1:400 meconium groups showed serosal thickening, inflammation, focal fibrin, and collagen deposits. Histopathologic features of the intestines of the 1:600 and 1:800 meconium groups did not differ from the intestines of the control group. CONCLUSION: Intraamniotic meconium, which is responsible for intestinal damage in gastroschisis, must reach a threshold level to induce intestinal damage. J Pediatr Surg 36:1811-1815.

Closed gastroschisis: Antenatal and postnatal features.

Four cases of antenatally diagnosed gastroschisis are described in whom there was significant closure of the abdominal wall defect around the prolapsed midgut. In 2 cases this resulted in near-total midgut infarction and short bowel syndrome. In a further case there was entry and exit jejunal and colonic atresia and significant midgut damage but some viability of extrabdominal bowel. In the final case, although there was complete closure of the ring around the base of the midgut, no intestinal loss had occurred. In the latter 2 cases, serial antenatal ultrasound imaging had shown development of intrabdominal bowel dilatation prompting early preterm delivery. Three of these infants currently are alive and well. The authors suggest the use of the term closed (or closing) gastroschisis to describe this phenomenon. J Pediatr Surg 36:1834-1837.

Coexistent neurenteric cyst and enterogenous cyst. Further support for a common embryologic error.

The authors describe common embryological pathways responsible for coexistent neurenteric and enterogenous cysts in a patient with spinal dysraphism.

Fetal diaphragmatic hernia without visceral herniation.

Many cases of congenital diaphragmatic hernia (CDH) are currently detected before birth. The authors hypothesized that there is a subgroup of patients with CDH who have no evidence of visceral herniation in utero and who would be expected to have less pulmonary hypoplasia and a good prognosis. Among 41 neonates with left-sided CDH treated between January 1990 and October 1993, 17 cases were diagnosed after birth. Ten of the 17 had undergone detailed fetal sonographic imaging at or after 20 weeks' gestation. After independent review of the prenatal scans of these 10 patients, one was found to have evidence of a diaphragmatic hernia and was excluded from further analysis. The other nine fetuses survived, and prosthetic repair of the diaphragmatic defect and extracorporeal membrane oxygenation (ECMO) were each required in only one patient. This contrasted with the outcome for 18 control patients with prenatally diagnosed CDH: 4 (22%) died, 13 (72%) required prosthetic repair, 9 (50%) were supported with ECMO and the duration of ventilatory support and hospital stay were significantly longer. There is a spectrum of severity among both pre and postnatally diagnosed cases of CDH. In the neonate with an isolated left-sided diaphragmatic hernia, a good prognosis is to be expected if the condition was not detectable by detailed prenatal sonography in the second half of pregnancy.