This study introduced whole-exome sequencing (WES) in prenatal diagnosis of fetal bowel dilatation to improve the detection outcome when karyotype analysis and copy number variation sequencing (CNV-seq) were uninformative in detecting pathogenic variants. The work reviewed 28 cases diagnosed with fetal bowel dilatation and analyzed the results of karyotype analysis, CNV-seq, and WES. Among the 28 cases, the detection rate in cases with low risk of aneuploidy was 11.54% (3/26), which is lower than 100% (2/2) in cases with high risk of aneuploidy. Ten low-risk aneuploidy cases with isolated fetal bowel dilatation had normal genetic testing results, while the remaining 16 cases with other ultrasound abnormalities were detected for genetic variants at a rate of 18.75% (3/16). The detection rate of gene variation was 3.85% (1/26) by CNV-seq and 7.69% (2/26) by WES. This study suggested that WES could reveal more genetic risk in prenatal diagnosis of fetal bowel dilatation and has value in prenatal diagnosis to reduce birth defects.

Fetal inguinal hernia is quite rare and here we report two cases of prenatally diagnosed inguinoscrotal hernia to add to the limited understanding of this rare condition. The disappearance of blood flow signal in the scrotum may be helpful in detecting fetal incarcerated inguinoscrotal hernia that may progress to strangulation. If bowel dilatation was observed in such cases, the physician should be alert to identify primary intestinal obstruction caused by congenital digestive tract malformation and secondary intestinal obstruction caused by incarceration.

Cecal volvulus is an uncommon cause of colonic obstruction. First-line treatment for cecal volvulus is surgery, as nonoperative management is rarely achievable. We herein report an extremely rare case of a patient with spontaneously resolved cecal volvulus; no recurrence occurred without elective surgery. A 47-year-old woman presented with acute lower abdominal pain. She was misdiagnosed with small bowel obstruction and treated conservatively. A few hours later, she was correctly diagnosed with cecal volvulus. Subsequently, her symptoms and computed tomography findings of cecal volvulus completely disappeared. She refused elective surgery, but no recurrence occurred during five months of follow-up.

OBJECTIVE: To investigate intra-abdominal bowel dilation (IABD) in the prediction of complex gastroschisis.
METHODS: This was a retrospective study of 174 singleton pregnancies with isolated fetal gastroschisis, resulting in live birth and with available ultrasound images from visits at both 20-22 and 30-32 weeks\' gestation. IABD was measured as the greatest transverse diameter of the most dilated intra-abdominal bowel segment, by an operator blinded to postnatal outcome. The distribution of IABD measurements in those with complex and those with simple gastroschisis was determined and the best cut-off value to predict complex gastroschisis was selected using receiver-operating characteristics (ROC) curves. The area under the ROC curve (AUC), detection rate (DR), false-positive rate (FPR), positive predictive value (PPV) and negative predictive value (NPV) were determined.
RESULTS: The study population included 39 (22.4%) cases of complex and 135 (77.6%) cases of simple gastroschisis. In the prediction of complex gastroschisis, the AUC at 20-22 weeks\' gestation was 0.742 (95% CI, 0.628-0.856) and the respective value for 30-32 weeks was 0.820 (95% CI, 0.729-0.910). At the IABD cut-off of 7 mm at 20-22 weeks, DR, FPR, PPV and NPV for complex gastroschisis were 61.5%, 6.7%, 72.7% and 89.4%, respectively, and at IABD cut-off of 14 mm at 30-32 weeks, the respective values were 64.9%, 5.9%, 75.0% and 90.7%.
CONCLUSIONS: Measurement of IABD at 20-22 or at 30-32 weeks\' gestation is useful in the prediction of complex gastroschisis. Copyright © 2019 ISUOG. Published by John Wiley & Sons Ltd.

Gastroschisis is a congenital, ventral wall defect associated with bowel evisceration. The defect is usually to the right of the umbilical cord insertion and requires postnatal surgical correction. The fetus is at risk for complications such as intrauterine growth restriction, preterm delivery, and intrauterine fetal demise. In addition, complex cases, defined by the presence of intestinal complications such as bowel atresia, stenosis, perforation, or ischemia, occur in up to one third of pregnancies affected by gastroschisis. As complex gastroschisis is associated with increased morbidity and mortality, research has focused on the prenatal detection of this high risk subset of cases. The purpose of this review is to discuss the prenatal, diagnostic approach to the identification of gastroschisis, to describe potential signs of complex gastroschisis on prenatal ultrasound, to review current guidelines for antepartum management and delivery planning, and to summarize results of both past and current intervention trials in fetuses with gastroschisis.

OBJECTIVE: 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.

OBJECTIVE: To investigate the ultrasound (US) markers predictive of complex gastroschisis (CG), mortality, and morbidity in fetuses with gastroschisis.
METHODS: This was a retrospective cohort study of 186 pregnancies with isolated fetal gastroschisis. Eight US markers were analyzed. The predictions and associations of US markers with CG, mortality, and morbidity were assessed. Combinations of US markers predictive of CG were investigated.
RESULTS: Extra-abdominal bowel dilatation (EABD), intra-abdominal bowel dilatation (IABD), and polyhydramnios were predictive of CG. EABD between 25 and 28 weeks had a sensitivity of 64%, a specificity of 89%, a positive predictive value (PPV) of 56.2%, and negative predictive value (NPV) of 91.8%. The predictions of IABD were sensitivity = 26.7%, specificity = 96.7%, PPV = 61.5%, and NPV = 86.8%. The odds ratios for CG in the presence of 1 and 2 US markers, compared with the absence of a US marker, were 18.3 (95% CI, 3.83-87.64) and 73.3 (95% CI, 6.14-876), respectively.
CONCLUSIONS: US markers predictive of CG were established. The combination of these markers increases the probability of CG.

BACKGROUND: Multi-detector computed tomography (MDCT) represents the gold standard in patients with acute abdomen syndrome and suspected bowel ischemia. It provides a correct diagnosis and contributes to appropriate treatment planning. This study aims to evaluate the role of 3D Tissue Transition Projection (TTP) transparent wall CT reconstruction for detecting the degree of bowel dilatation and to correlate this finding with the aetiology and prognosis in patients affected by mesenteric infarction.
METHODS: Forty-seven patients affected by bowel infarction due to vascular obstruction (arterial in 66% of cases, venous in 34%) were assessed by MDCT examination searching for the degree of bowel dilatation (subdivided into 4 groups: entire small bowel (SB); ≥50% of SB; < 50% of SB; large bowel only). Two blinded radiologists evaluated TTP 3D transparent wall and multi-planar reconstructions. Chi square test was used to correlate CT findings with the disease course and the mortality rate. Cohen\'s kappa statistics was used in order to assess inter-observer agreement.
RESULTS: The overall mortality rate was 64%, with a 90% value for arterial forms and 10% in case of venous infarctions. The entire SB (n = 10) or a ≥50% SB dilatation (n = 16) correlated with poor prognosis in all cases (p < 0.05); a <50% SB dilatation (n = 16) correlated with good prognosis in 87.5% of cases (p < 0.05). A large bowel only dilatation (n = 5) did not show a significant prognostic value (p = 0.13). Almost perfect agreement between the two readers was found (k = 0.84).
CONCLUSIONS: MDCT offers different reconstruction software for diagnosing bowel ischemia. 3D TTP transparent wall reconstructions represent a rapid and automatic tool for identifying loop dilatation, which significantly correlates with an arterial aetiology and poor prognosis.

OBJECTIVE: Prenatal diagnosis of complex laparoschisis is difficult and yet it is associated with a significantly increased morbidity and mortality. The aim of the study was to define ultrasonographic factor and obstetrical criteria to predicting adverse neonatal outcome.
METHODS: Retrospective cohort study over 10 years, of 35 gastroschisis cases in CHU of Reims (France). The primary outcome was the neonatal death due to gastroschisis. The sonographic markers was bowel dilatation intra- or extra-abdominale, amniotic fluid, intra-uterin growth. The obstetrical criteria was fetal vitality, fetal heart rate, type of delivery, the weight and the term of birth.
RESULTS: There were 28 live births, 16 children with favorable outcome, 8 children with adverse perinatal outcome and 4 deaths. There were any sonographic criteria to predicting adverse neonatal outcome. Only the birth weight less than 2000g was associated with an increase gastrointestinal complications (P=0.049). The type of the delivery was not associated with an adverse prenatal outcome.
CONCLUSIONS: The birth weight less than 2000g seems to be associate with an increase gastrointestinal complications. It is important to fight against prematurity in case of gastroschisis.

OBJECTIVE: The aim of this study is to increase the understanding of pneumatosis cystoides intestinalis (PCI) and its incidents.
METHODS: We report here a case of PCI in an 88-year-old man with a provisional diagnosis of perforated viscus and possible ischaemic bowels based on CT findings of pneumoperitoneum. The patient was found to have extensive PCI on his small bowels. We then systematically search the PubMed database for case reports for articles containing \'pneumatosis intestinalis\' in their titles or key words.
RESULTS: The study group consisted of 52 cases on PCI from the period of 2010-2014 with the focus on the adult population. The youngest patient was 18 years old and the oldest was 91 years old. The mean age was 60.4 years (range, 18-91 years old). There were 27 (52 %) females and 25 (48 %) males. The most common symptoms were abdominal pain (79 %) followed by nausea/vomiting (27 %) and abdominal distension (19 %). CT imaging was the most common investigation modality used (94 %). Three (6 %) of the patients had laparoscopic treatment while 20 (38 %) had laparotomy. Thirty-six (69 %) of them recovered uneventfully while 9 (17 %) of the patients died.
CONCLUSIONS: Although there have been more case reports published on PCI in the recent years, the understanding of this condition remains in the infancy stage. PCI can be difficult to diagnose and can be easily misdiagnosed as pneumoperitoneum in an acute abdomen. Often it is identified incidentally during operation. Asymptomatic PCI should be treated conservatively, while emergency laparotomy should be reserved for life threatening abdominal pathology.