Prenatal detection of chromosomal abnormalities and copy number variants in fetuses with congenital gastrointestinal obstruction.

BACKGROUND: Congenital gastrointestinal obstruction (CGIO) mainly refers to the stenosis or atresia of any part from the esophagus to the anus and is one of the most common surgical causes in the neonatal period. The concept of genetic factors as an etiology of CGIO has been accepted, but investigations about CGIO have mainly focused on aneuploidy, and the focus has been on duodenal obstruction. The objective of this study was to evaluate the risk of chromosome aberrations (including numeric and structural aberrations) in different types of CGIO. A second objective was to assess the risk of abnormal CNVs detected by copy number variation sequencing (CNV-seq) in fetuses with different types of CGIO. METHODS: Data from pregnancies referred for invasive testing and CNV-seq due to sonographic diagnosis of fetal CGIO from 2015 to 2020 were obtained retrospectively from the computerized database. The rates of chromosome aberrations and abnormal CNV-seq findings for isolated CGIOs and complicated CGIOs and different types of CGIOs were calculated. RESULTS: Of the 240 fetuses with CGIO that underwent karyotyping, the detection rate of karyotype abnormalities in complicated CGIO was significantly higher than that of the isolated group (33.8% vs. 10.8%, p < 0.01). Ninety-three cases with normal karyotypes further underwent CNV-seq, and CNV-seq revealed an incremental diagnostic value of 9.7% over conventional karyotyping. In addition, the incremental diagnostic yield of CNV-seq analysis in complicated CGIOs (20%) was higher than that in isolated CGIOs (4.8%), and the highest prevalence of pathogenic CNVs/likely pathogenic CNVs was found in the duodenal stenosis/atresia group (17.5%), followed by the anorectal malformation group (15.4%). The 13q deletion, 10q26 deletion, 4q24 deletion, and 2p24 might be additional genetic etiologies of duodenal stenosis/atresia. CONCLUSIONS: The risk of pathogenic chromosomal abnormalities and CNVs increased in the complicated CGIO group compared to that in the isolated CGIO group, especially when fetuses presented duodenal obstruction (DO) and anorectal malformation. CNV-seq was recommended to detect submicroscopic chromosomal aberrations for DO and anorectal malformation when the karyotype was normal. The relationship between genotypes and phenotypes needs to be explored in the future to facilitate prenatal diagnosis of fetal CGIO and yield new clues into their etiologies.

[Acquired internal intestinal fistulae in children]. / Priobretennye vnutrennie mezhkishechnye svishchi u detei.

OBJECTIVE: To analyze the diagnosis and treatment of children with acquired internal intestinal fistulae. MATERIAL AND METHODS: There were 3 infants and young children with acquired internal intestinal fistulae. Clinical, laboratory and radiological diagnostic methods were used. RESULTS: Two out of 3 children with acquired internal intestinal fistulae underwent surgical treatment for congenital intestinal obstruction. Acute intestinal ulcers appeared after surgery. In a premature child, intestinal fistula arose on the background of necrotizing colitis. Conservative approach was applied in this case. All children were operated on; intestinal fistula was eliminated. Two children are alive, 1 died after surgery (multiple organ failure). CONCLUSION: Acquired internal intestinal fistulae are rare in children. Their causes may be acute intestinal perforation after surgery or covered (not diagnosed) ulcer as a complication of necrotizing colitis in premature children.

Intestinal Failure: A Description of the Problem and Recent Therapeutic Advances.

Pediatric intestinal failure occurs when gut function is insufficient to meet the nutrient and hydration needs of the growing child. The commonest cause is short bowel syndrome with maldigestion and malabsorption following massive bowel loss. The remnant bowel adapts during the process of intestinal rehabilitation. Management promotes the achievement of enteral autonomy while mitigating the risk of comorbid disease. The future of care is likely to see expansion of pharmacologic methods for augmenting bowel adaptation, tissue engineering techniques enabling immune suppression-free autologous bowel transplant, and the development of electronic health record tools for efficient, collaborative study and care improvement.

Intestinal Obstruction of Congenital Origin: A Case Report.

Congenital bands are rare causes of intestinal obstruction and often leads to diagnostic challenges. Diagnostic delays in cases of mechanical obstruction might lead to irreversible bowel ischemia and perforation. Presently described is a case of an 18 month young child with severe vomiting developed for one day. The child was initially thought to have acute viral enteritis and treated accordingly. Due to the severity, an X-Ray and computed tomography scan were sent which pointed towards the possibility of having congenital bands. He was treated operatively. The child was kept under observation for eleven days and was discharged. Although rare, intestinal obstruction due to congenital bands must be considered when treating a child with severe vomiting. Keywords: case reports, congenital abnormalities, intestinal obstruction, vomiting.

Neonatal Gastrointestinal Stromal Tumor of the Sigmoid Colon: A Case Report and Review of Literature.

ABSTACTBackground: Gastrointestinal stromal tumors (GIST) are the most common mesenchymal neoplasms of the digestive tract. They are believed to originate from the interstitial cells of Cajal or their precursors. Case Report: A 10-day-old boy presented with intestinal obstruction. He was operated upon and a mass was found at the sigmoid colon, which was resected and divided colostomy was performed. The diagnosis of neonatal GIST was confirmed by histologic and immunohistochemical studies. Conclusion: This is the ninth case of neonatal GIST that arose from the intestine and the first reported to arise from the sigmoid colon. Colonic GIST can occur in the neonatal age group.

Congenital peritoneal encapsulation: A review and novel classification system.

Congenital peritoneal encapsulation (CPE) is a very rare, congenital condition characterised by the presence of an accessory peritoneal membrane which encases a variable extent of the small bowel. It is unclear how CPE develops, however it is currently understood to be a result of an aberrant adhesion in the peritoneal lining of the physiological hernia in foetal mid-gut development. The condition was first described in 1868, and subsequently there have been only 45 case reports of the phenomenon. No formal, systematised review of CPE has yet been performed, meaning the condition remains poorly understood, underdiagnosed and mismanaged. Diagnosis of CPE remains clinical with important adjuncts provided by imaging and diagnostic laparoscopy. Two thirds of patients present with abdominal pain, likely secondary to sub-acute bowel obstruction. A fixed, asymmetrical distension of the abdomen and differential consistency on abdominal palpation are more specific clinical features present in approximately 10% of cases. CPE is virtually undetectable on plain imaging, and is only detected on 40% of patients with computed tomography scan. Most patients will undergo diagnostic laparotomy to confirm the diagnosis. Management of CPE includes both medical management of the critically-unstable patient and surgical laparotomy, partial peritonectomy and adhesiolysis. Prognosis following prompt surgical treatment is excellent, with a majority of patients being symptom free at follow up. This review summarises the current literature on the aetiology, diagnosis and treatment of this rare disease. We also introduce a novel classification system for encapsulating bowel diseases, which may distinguish CPE from the commoner, more morbid conditions of abdominal cocoon and encapsulating peritoneal sclerosis.

Congenital obstructive bowel anomalies presenting after neonatal age.

Background: Delayed presentation might affect the ultimate management of children with congenital bowel obstructive bowel anomalies (CBA). We evaluated the profile, challenges of treatment and outcome of CBA presenting after neonatal age. Methods: We did a retrospective analysis of data of children with CBA presenting after neonatal age from January 2013 to November 2017. We used the Statistical Package for Social Sciences (SPSS) for data entry and analysis. Results: There were 57 cases in total comprising of Hirschsprung's disease (HD; 37 cases), anorectal malformation (ARM; 15 cases), and duodeno-jejunal web (5 cases), with median age of 9 months (IQR 4 months - 2 years) on presentation. Overall, 52 (91.2%) patients had one or more complications on presentation. Definitive procedure did not differ from established operations, but only 9 (15.8%) had primary procedures and 48 (84.2%) cases required multi-stage treatment. After an average follow up period of 19.5 months (range: 1-45 months), 18 (31.6%) cases developed procedure-related complications and 3 (5.3%) had residual bowel dysfunction, but there was no mortality. The morbidity was limited to cases with HD and ARM. Conclusion: In our setting, HD is the commonest bowel anomaly that presents after the neonatal age. The delayed presentation may predispose to complications and preclude single-stage treatment in some cases. Training of healthcare providers to improve recognition and early referral of these anomalies may lead to early diagnosis and minimize morbidity.

Chronic bowel obstruction from colonic stenosis in early infancy-A report of two cases.

Bowel obstruction in early infancy may result from a variety of congenital anomalies involving parts of the small and large bowel. However, in infancy, chronic bowel obstructions from congenital or acquired stenosis of the colon are rare and can cause diagnostic quandary. We present two cases of an eleven-week old male and a nine-week old male with massive abdominal distension and features of chronic bowel obstruction dating from neonatal period. In the first case investigations were inconclusive and laparotomy revealed isolated stenosis of the ascending colon. In the second case colonic stenosis was suspected preoperatively and a barium enema done showed multiple colonic stenosis confirming our working diagnosis. The diagnostic dilemmas encountered in managing the first patient are discussed to highlight the need for high index of suspicion of this condition in infants with chronic constipation. The way experience in managing the first case influenced diagnosis of the second case is also highlighted.

Evaluation of pre- and postnatally diagnosed gastrointestinal tract obstructions.

Purpose: Signs of congenital obstruction of the gastrointestinal tract (GIT) organs may present on prenatal ultrasonography. Prenatal detection is influenced by several factors, including obstruction site, lesion degree (partial or complete), the occurrence of associated malformations, and gestational week at screening. Here, we aimed to evaluate the success of prenatal diagnosis of GIT obstructions in a tertiary center in Turkey. Materials and methods: The study included 34 prenatally and 22 postnatally diagnosed babies with different GIT malformations. GIT obstructions were divided into five groups according to the level of obstruction (A. esophagus, B. stomach and proximal duodenum, C. small intestine, D. large intestine, E. multiple obstructions). Results: The prenatal detection rate among all cases was 60.7%. The associated structural malformation and aneuploidy rates were 21.4 and 5.4%, respectively. Twelve neonates died within the first day after birth due to various reasons. The remaining 43 babies underwent surgery at different times according to their clinical conditions. The mean time between birth and surgery was 4.5 days (range, 1-56 days). There were 12 postoperative deaths due to various complications, and one case died at 2 years of age. Overall, 31 of the 56 (55.4%) babies were alive during the follow-up period. The successful prenatal diagnosis rates were 57.2, 85.8, 75, 25, and 80% in groups A, B, C, D, and E, respectively. The median birth weight increased significantly in groups A through D (p = .04). However, there were no intergroup differences in the Apgar scores, associated abnormality rates, time to surgery, and number of babies operated. Conclusions: These findings demonstrate the importance of prenatal ultrasonography and success of prenatal detection especially for upper GIT abnormalities. Although there are some prenatal signs of GIT obstructions, such as double bubble, polyhydramnios, enlarged bowel, and failure to visualize the stomach, early prenatal diagnosis is difficult and can be delayed, resulting in the detection of GIT obstruction after birth. When suspecting GIT obstruction, clinicians should evaluate the fetal anatomy carefully and be aware of associated chromosomal abnormalities.

Intestinal obstruction with a twist: a rare case of congenital portal vein aneurysm causing intestinal obstruction.

Bilious vomiting is often a presenting feature of upper intestinal obstruction in newborn. We present a case of intestinal obstruction in a newborn baby caused by abnormal vascular band arising from portal vein aneurysm in association with a midgut volvulus. Congenital anomalies of portovenous system are very rare, and it usually presents with portal hypertension in late infancy or childhood. In this particular child, the portal vein aneurysm contributed to intestinal obstruction due to both a failure of intestinal rotation and a mechanical band over the transverse colon.

Outcomes of transanal endorectal pull-through for rectal atresia.

Rectal atresia is a rare anorectal malformation, and it has been reported to represent 1%-2% of all anorectal malformations. We report three newborns who were admitted to the neonatal intensive care unit for abdominal distention, bilious vomiting and failure to pass meconium. The external anus and genitalia were normal and well formed. Digital rectal examination showed a blind-ending anal canal. All three infants were initially managed with diverting colostomy and then transanal resection of the rectal atresia with primary anastomosis, followed by colostomy closure. All patients eventually developed normal bowel habits and gained complete bowel control at 3-5 years of age, with mild constipation managed with laxatives. Contrast enema in a newborn with distal bowel obstruction is helpful to delineate the anatomy to show the gaps and to facilitate the procedure. In conclusion, transanal endorectal pull-through is a feasible and safe procedure with satisfactory clinical outcomes.

Mimics of malrotation on pediatric upper gastrointestinal series: a pictorial review.

Intestinal malrotation is a continuum of congenital anomalies due to lack of rotation or incomplete rotation of the fetal intestine around the superior mesenteric artery axis. The abnormal bowel fixation (by mesenteric bands) or absence of fixation of portions of the bowel increases the risk of bowel obstruction, acute or chronic volvulus, and bowel necrosis. The clinical presentation of patients with malrotation without, with intermittent, or with chronic volvulus can be problematic, with an important minority presenting late or having atypical or chronic symptoms, such as intermittent vomiting, abdominal pain, duodenal obstruction, or failure to thrive. The diagnosis is heavily reliant on imaging. Upper GI series remain the gold standard with the normal position of the duodenojejunal junction lateral to the left-sided pedicles of the vertebral body, at the level of the duodenal bulb on frontal views and posterior (retroperitoneal) on lateral views. However, a variety of conditions might influence the position of the duodenojejunal junction, potentially leading to a misdiagnosis of malrotation. Such conditions include improper technique, gastric over distension, splenomegaly, renal or retroperitoneal tumors, liver transplant, small bowel obstruction, the presence of properly or malpositioned enteric tubes, and scoliosis. All of these may cause the duodenojejunal junction to be displaced. We present a series of cases highlighting conditions that mimic malrotation without volvulus to increase the practicing radiologist awareness and help minimize interpretation errors.

Perinatal hemorrhage from ulceration of the umbilical cord: A potentially catastrophic association with duodenal and jejunal obstruction.

PURPOSE: The purpose of this study is to review published reports and contribute new cases of umbilical cord ulceration (UCU) with perinatal hemorrhage into the amniotic cavity in the setting of duodenal or jejunal obstruction because knowledge of this sequence is poorly disseminated and could be lifesaving. METHODS: Published reports of UCU with hemorrhage associated with congenital duodenal or jejunal obstruction were reviewed. Chart review was conducted for the cases encountered at our institutions between January 2008 and March 2017. We noted perinatal complications, method of delivery, gestational age, birth weight, gender, number, location, and pathologic description of umbilical cord ulcers, and outcome. RESULTS: Thirty-one reports and 7 new cases were studied. Perinatal complications included: preterm labor or preterm premature rupture of membranes: 63%; fetal distress: 95%; mean gestational age: 33weeks; premature gestation: 95%; bloody amniotic fluid: 90%. Pathological analysis of UCUs revealed solitary, multifocal, helical and punched-out lesions. There were 12 neonatal deaths (32%), and 12 intrauterine deaths (32%). Survival rate was 37%. CONCLUSIONS: UCU with perinatal hemorrhage is associated with duodenal and jejunal obstruction. Knowing the typical clinical signs of this potential catastrophic complication could prompt lifesaving delivery. TYPE OF STUDY: Prognostic LEVEL OF EVIDENCE: IV.

[CONGENITAL ILEAL STENOSIS: LATE CLINICAL MANIFESTATIONS OF EARLY PRENATAL SUSPICION].

INTRODUCTION: Congenital stenosis (partial obstruction) of the small intestine is uncommon in comparison to atresia (complete obstruction). The clinical manifestations of stenosis could be delayed up to several weeks post-delivery. We present a case wherein a baby with a prenatal ultrasound examination showed a suspicious picture of small bowel obstruction. However, the clinical manifestations after delivery and imaging studies were misleading and non-classic; therefore, the resection of the stenotic portion of the ileum was delayed until the baby was one month of age. After the operation the baby stopped vomiting but diarrhea continued. The infant's formula was changed to formula containing medium chain triglyceride (MCT) instead of long chain triglyceride which proved effective in stopping the diarrhea. We emphasis the importance of including the differential diagnosis of congenital obstruction in any baby with vomiting (especially bile stain vomiting) despite the fact that the baby had diarrhea and not constipation and the imaging studies were not obvious.

Prenatal diagnosis and outcome of fetal gastrointestinal obstruction.

INTRODUCTION: The purpose of this study was to evaluate the accuracy of prenatal diagnosis for fetuses with gastrointestinal (GI) obstruction with correlation to postnatal outcomes. METHODS: Fetuses diagnosed with GI obstruction (excluding esophageal and duodenal) were reviewed for those evaluated between 2006 and 2016. Prenatal diagnosis and imaging studies were compared to postnatal findings. Outcomes evaluated included diagnostic accuracy, rate of other anomalies, neonatal length of stay, incidence of short bowel syndrome, and discharge with TPN or gastrostomy. RESULTS: Forty-eight patients were diagnosed prenatally with obstruction. Six patients were excluded owing to incomplete records and follow-up. Twelve fetuses were diagnosed with ultrasound alone, and thirty-four with ultrasound and MRI. A diagnosis of obstruction was accurate in 88.1% (n=37/42) with a positive predictive value of 91.3%, while US with MRI had an accuracy of 84.4%. Associated anomalies were highest among fetuses with anorectal obstruction (90.1%), compared to large (50%) or small bowel obstruction (28%). Survival rate was lowest for anorectal obstruction (54.5%), compared to large or small bowel obstruction (100% for both). CONCLUSION: Fetal MRI is an accurate modality in the diagnosis of fetal GI obstruction and can complement findings characterized by ultrasound. Fetuses with anorectal obstruction have a higher rate of associated anomalies and the lowest survival. LEVEL OF EVIDENCE: IIb.