Pancake kidney and jejunal atresia: An uncommon dual anomaly detected prenatally-A case report.

Pancake kidney is a renal fusion anomaly with only a few reported prenatal diagnoses. Other structural anomalies beyond the urogenital system may also be associated. This study describes a dual anomaly case detected prenatally, comprising of pancake kidney and jejunal atresia. A postnatal abdominal ultrasound confirmed both kidneys were fused in the midline at the aortic bifurcation level, along with a type 3b jejunal atresia. Based on the available limited evidence about pancake kidney, renal functions appear to remain largely preserved and unaffected as in our case according to 6 months of follow-up. However, further investigation is needed to explore any potential association with chromosomal and structural abnormalities in selected cases.

Mitchell-Riley syndrome iPSCs exhibit reduced pancreatic endoderm differentiation due to a mutation in RFX6.

Mitchell-Riley syndrome (MRS) is caused by recessive mutations in the regulatory factor X6 gene (RFX6) and is characterised by pancreatic hypoplasia and neonatal diabetes. To determine why individuals with MRS specifically lack pancreatic endocrine cells, we micro-CT imaged a 12-week-old foetus homozygous for the nonsense mutation RFX6 c.1129C>T, which revealed loss of the pancreas body and tail. From this foetus, we derived iPSCs and show that differentiation of these cells in vitro proceeds normally until generation of pancreatic endoderm, which is significantly reduced. We additionally generated an RFX6HA reporter allele by gene targeting in wild-type H9 cells to precisely define RFX6 expression and in parallel performed in situ hybridisation for RFX6 in the dorsal pancreatic bud of a Carnegie stage 14 human embryo. Both in vitro and in vivo, we find that RFX6 specifically labels a subset of PDX1-expressing pancreatic endoderm. In summary, RFX6 is essential for efficient differentiation of pancreatic endoderm, and its absence in individuals with MRS specifically impairs formation of endocrine cells of the pancreas head and tail.

Diagnostic value of the microcolon using ultrasonography in small bowel atresia.

BACKGROUND: Microcolon helps diagnose small bowel atresia (SBA) using contrast enema. However, there are no ultrasonography (US) microcolon criteria for diagnosing SBA. Therefore, this study aimed to evaluate colon accuracy and other characteristics for diagnosing SBA by US, using surgical or clinical information as the reference standard. METHODS: US was performed on 46 neonates aged ≤ 7 days old. In the study group (n = 15), neonates with SBA were confirmed following surgery. In the study group without SBA (n = 15), neonates with other gastrointestinal problems besides SBA were confirmed by surgical or clinical follow-up. Sixteen neonates without gastrointestinal problems were classified as the control group. The colonic diameter was measured, and colonic gas was sought and observed. Statistical analysis was performed to compare US parameters between the study group and other two groups. The optimal cut-off value of the colonic diameter for SBA diagnosis was obtained using receiver operating characteristic analysis. RESULTS: Colonic diameters (0.5 cm) in the study group (interquartile ranges [IQR], 0.5-0.6 cm) was significantly smaller than that in the group without SBA (0.9 cm; IQR, 0.8-1.2 cm) (P < 0.001) and in the control group (1.2 cm; IQR, 0.8-1.35 cm) (P < 0.001). Optimum cut-off value for diagnosing SBA was 0.65 cm (sensitivity, 90.3%; specificity, 86.7%; accuracy, 89.1%) for the colonic diameter. Combining microcolon and gas-negativity showed the best performance in SBA diagnosis using US, with increased accuracy (91.3%). CONCLUSION: A colon < 0.65 cm in diameter should be called a microcolon; combining US with gas-negativity is an essential diagnostic basis for SBA.

Ultrasonographic Imaging of the Fetal Duodenal Tract.

OBJECTIVES: To investigate whether fetal duodenal tract sections can be visualized in the prenatal ultrasonographic examination. METHODS: This study was designed in cross-section. Healthy singleton pregnant women who applied to the perinatology outpatient clinic for second-level ultrasound scanning between September 2020 and February 2021 were included in the study. Demographic information of the participants was obtained and an ultrasound scan was performed. The fetal duodenal tract was evaluated in three sections, including the pylorus. The fetal duodenal tract was differentiated from adjacent organs by its anatomical location, hyperechoic nature, and presence of fluid in the lumen. RESULTS: A total of 278 eligible participants between 18 and 22 weeks of gestation were evaluated. While the fetal pylorus was closed in 76.6% of the participants, it was open in 23.4%. Duodenum pars superior, pars descendens, and pars inferior imaging rates were 99.3%, 98.2%, and 95.7%, respectively. It was possible to distinguish these parts from neighboring organs by 99.6%, 100%, and 100%, respectively. While the first, second, and third parts of the duodenum were observed as solid in 42.0%, 58.2%, and 52.2%, respectively, 57.9%, 41.7%, and 47.7% had fluid in the lumen. CONCLUSION: The fetal duodenal tract can be viewed with prenatal ultrasonography in pregnant women who are not in a dorsoanterior position. This may make an additional contribution to the diagnosis of duodenal obstructions, which is the most common cause of intestinal atresia in prenatal screening.

[Ileal Atresia Due to Intrauterine Intussusception]. / Intrauterine Invagination als Ursache einer Dünndarmatresie.

Intussusception commonly affects children in the first year of life but it may rarely also appear in utero. We report a newborn with delayed passing of meconium, repeated vomiting, and abdominal distension in the first week of life. After radiological diagnosis of a small bowel obstruction, the newborn underwent an exploratory laparotomy where an ileal atresia proximal to an intussusception was found. After resection of the affected bowel, an end-to-end anastomosis was possible. The postoperative period was uneventful. This case shows that intrauterine intussusception can be a rare cause for ileal atresia. Fast diagnosis and effective interdisciplinary team work are essential for a satisfying outcome.

New sonographic feature (C-sign) to improve the prenatal accuracy of jejunal atresia.

OBJECTIVES: To describe a new sonographic feature of the C-sign for prenatal diagnosis of jejunal atresia and evaluate its role in prenatal jejunal atresia, particularly preceding bowel dilatation and polyhydramnios. METHODS: This was a retrospective study from a tertiary maternal hospital. Patients with prenatal sonographic examination and confirmed small bowel atresia postdelivery were included. All sonographic images were reviewed by two senior sonographers. Comparison of sonographic images between prenatal jejunal and ileal atresia using the C-sign resembles the shape of the entire duodenum and other traditional sonographic features. The control group without bowel atresia was assessed for the presence of the C-sign. RESULTS: The C-sign and combined bowel dilatation with polyhydramnios were more frequent in jejunal atresia than ileal atresia, but the C-sign can be used to detect jejunal atresia earlier. The C-sign can be more likely to diagnose jejunal atresia in persisting bowel dilatation and polyhydramnios. The C-sign was not reported in any of the control fetuses. CONCLUSION: The C-sign is a new sonographic feature that can be used to improve the prenatal accuracy and early detection of jejunal atresia. However, further prospective validation is needed.

The Double Bubble Sign: Duodenal Atresia and Associated Genetic Etiologies.

BACKGROUND: The "double bubble" sign is an ultrasonographic finding that commonly represents duodenal atresia and is associated with trisomy 21. OBJECTIVES: We sought to evaluate the positive predictive value of a prenatally identified double bubble sign for duodenal atresia and the genetic etiologies associated with it. METHODS: We examined a retrospective cohort with prenatal double bubble sign between January 1, 2008, and June 30, 2017. Postnatal diagnoses were determined by review of operative reports and additional postnatal evaluation including cytogenetic analysis, molecular analysis, and/or clinical genetic evaluation. RESULTS: All live births at our institution with a prenatal double bubble sign had confirmed duodenal atresia. Additional anatomic anomalies and/or genetic abnormalities were identified in 62% of cases. Out of 21 cases, 6 had trisomy 21. Of the remaining 15 cases, 8 were nonisolated duodenal atresia, 3 of which had a heterotaxy syndrome. In the 7 isolated cases, 1 likely pathogenic chromosomal microdeletion was identified. CONCLUSIONS: Prenatal double bubble sign is a reliable predictor of duodenal atresia. In addition to trisomy 21, heterotaxy may be encountered. ZIC3 mutations as well as microdeletion of 4q22.3 may be underlying genetic etiologies to be considered in the diagnostic evaluation of a prenatal double bubble sign.

A rare case of intrauterine intussusception causing ileal atresia.

Intrauterine intussusception is a rare but evident cause of intestinal atresia and is usually detected intraoperatively. We report on a term neonate who presented to the Department of Paediatric Surgery, Sabah Women and Children's Hospital, Malaysia with delayed passage of meconium and intestinal obstruction, wherein the lower contrast showed a claw sign. This was a good clue that this neonate had intrauterine intussusception and this suspicion was confirmed upon laparotomy. We found an ileo-ileal intussusception causing ileal atresia, requiring resection and primary anastomosis.

Isolated Ascites in a Monochorionic Twin after Fetoscopic Laser Ablation Is Not Necessarily Secondary to Recurrence or Anaemia: Bowel Complications in Twin-to-Twin Transfusion Syndrome after Fetoscopic Laser Ablation.

BACKGROUND/PURPOSE: We report a case study of jejunal atresia and the results of a systematic literature review of all reported cases of bowel complications occurring after fetoscopic laser ablation (FLA) for the treatment of twin-to-twin transfusion syndrome (TTTS). METHODS: A systematic literature review was performed of bowel complications after FLA for TTTS according to PRISMA guidelines. RESULTS: There are 11 published cases of small bowel atresia, 5 cases of necrotising enterocolitis (NEC), and 2 cases with foetal bowel perforations. Recipient twins were more likely to be affected by small bowel atresia (7 recipient and 4 donor cases) and NEC (3 recipient and 2 donor twins). Prenatal ultrasonographic abnormalities were demonstrated in 7 out of 9 cases with bowel atresia and in both cases of bowel perforation. The overall survival rate for neonates with bowel complications after FLA is 72%, but is much lower for co-twins at 22%. The survival rates for jejunoileal atresia and NEC are 91 and 40%, respectively. CONCLUSIONS: It is uncertain as to whether these bowel anomalies are due to bowel ischaemia associated with TTTS, the treatment with FLA, or a combination of both. Cases with prenatal abdominal ultrasonographic abnormalities after FLA should have close prenatal and postnatal assessment to detect bowel complications.

Prenatal magnetic resonance and ultrasonographic findings in small-bowel obstruction: imaging clues and postnatal outcomes.

BACKGROUND: Prenatal small-bowel obstruction can result from single or multiple atresias, and it can be an isolated abnormality or part of a syndrome. It is sometimes the first manifestation of cystic fibrosis. Accurate prediction of the level of obstruction and length of bowel affected can be difficult, presenting a challenge for counseling families and planning perinatal management. OBJECTIVE: To review the prenatal US and MRI findings of small-bowel obstruction and to assess whether fetal MRI adds information that could improve prenatal counseling and perinatal management. MATERIALS AND METHODS: We retrospectively reviewed 12 prenatally diagnosed cases of small-bowel obstruction evaluated by both US and MRI from 2005 to 2015. We analyzed gestational age at evaluation, US and MRI findings, gestational age at delivery and postnatal outcomes. RESULTS: The final diagnoses were jejunal atresia (7), ileal atresia (1), cystic fibrosis (3) and combined jejunal and anal atresia (1). Four of the eight with jejunal atresia were found to have multiple small-bowel atresias. Prenatal perforation was noted in three. We identified a trend of increasing complexity of bowel contents corresponding to progressively distal level of obstruction, as indicated by increasing US echogenicity and high T1 signal on MRI. Seven cases of jejunal atresia and one case of ileal atresia demonstrated small ascending, transverse and descending colon (microcolon) with filling of a normal-diameter rectum. In contrast, all three fetuses with cystic fibrosis and the fetus with jejunal-anal atresia demonstrated microcolon as well as abnormal paucity or absence of rectal meconium. Polyhydramnios was present in nine. Eight were delivered prematurely, of whom seven had polyhydramnios. The fetus with jejunal and anal atresia died in utero. Postnatally, three had short gut syndrome, all resulting from multiple jejunal atresias; these three were among a subset of four fetuses whose bowel diameter measured more than 3 cm. Eight infants had no further gastrointestinal complications. The presence of multiple atresias was not predicted by prenatal US or MRI. CONCLUSION: MR provides useful additional information regarding meconium distribution in the small bowel, which helps to clarify the level of obstruction. MR was additionally useful in the assessment of colon and rectal contents, serving as a fetal enema. Abnormally diminished meconium in the rectum suggests cystic fibrosis or combined small-bowel and colonic obstruction, information that is useful in counseling and preparing for postnatal care.

Sonographic markers associated with adverse neonatal outcomes among fetuses with gastroschisis: an 11-year, single-center review.

BACKGROUND: Gastroschisis complicates 1 in 2000 births and is readily identifiable during prenatal ultrasound scans. Outcomes in fetuses that are affected by gastroschisis vary widely from stillbirth or neonatal death to uncomplicated surgical correction, which makes prenatal counseling challenging. OBJECTIVE: The goal of our study was to identify sonographic markers that are associated with perinatal death and morbidity that include significant bowel injury, necrotizing enterocolitis, and the need for bowel resection in fetuses with gastroschisis. STUDY DESIGN: We identified a cohort of fetuses that were diagnosed with gastroschisis from 2003-2014. Sonographic markers that were reviewed included growth restriction, abdominal circumference, oligohydramnios, bowel dilation, and gastric bubble characteristics. We evaluated these markers both at diagnosis and near delivery. Four adverse perinatal outcomes were assessed: perinatal death, necrotizing enterocolitis, need for bowel resection, and a composite of significant bowel injury, which included a diagnosis of bowel atresia or necrosis at the time of surgical exploration. Logistic regression was performed to calculate odds ratios and 95% confidence intervals for each marker and outcome. RESULTS: One hundred seventy-seven patients were identified, and 154 of these patients met inclusion criteria after exclusions for delivery <24 weeks gestation, other associated anomalies, lethal karyotype, or lost to follow-up evaluation. Markers at the time of diagnosis (median gestational age, 21 weeks [25th,75th interquartile range, 19, 24 weeks]) that were associated with perinatal death were abdominal circumference <5th percentile (odds ratio, 5.56; 95% confidence interval, 1.25-24.76), abnormal gastric bubble (odds ratio, 11.20; 95% confidence interval, 2.15-58.33), and abnormal stomach location (odds ratio, 17.1; 95% confidence interval, 2.99-97.85). An abnormal stomach location (odds ratio, 5.53; 95% confidence interval, 1.03-29.72) before delivery was associated with perinatal death. Gastric dilation before delivery (odds ratio, 4.36; 95% confidence interval, 1.10-17.34)] was associated with the need for bowel resection. CONCLUSION: Early sonographic markers of increased perinatal mortality rates include abdominal circumference <5th percentile and an abnormal gastric bubble.

Accuracy of prenatal ultrasound in detecting jejunal and ileal atresia: systematic review and meta-analysis.

OBJECTIVE: The accuracy of prenatal ultrasound examination in detecting jejunal and ileal atresia has been reported in the literature to be highly variable, at 25-90%. The aim of this systematic review was to evaluate the accuracy of prenatal ultrasound in detecting non-duodenal small bowel atresia (ND-SBA). METHODS: MEDLINE, EMBASE and The Cochrane Library, including The Cochrane Database of Systematic Reviews (CDSR), Database of Abstracts of Reviews of Effects (DARE) and The Cochrane Central Register of Controlled Trials (CENTRAL), were searched electronically. The overall detection rate of jejunal or ileal atresia using ultrasound was reported. The accuracy of using polyhydramnios and dilated loops of bowel as diagnostic signs was also explored. RESULTS: Sixteen studies involving 640 fetuses were included in this review. The detection rate of ND-SBA by prenatal ultrasound was highly variable, with values ranging from 10 to 100%, with an overall prediction of 50.6% (95% CI, 38.0-63.2%). When analyzed separately, the detection rates of jejunal and ileal atresia were 66.3%, (95% CI, 33.9-91.8%) and 25.9% (95% CI, 4.0-58.0%), respectively. Both dilated loops of bowel and polyhydramnios as diagnostic signs for ND-SBA provided a low overall detection rate. CONCLUSIONS: The diagnostic performance of prenatal ultrasound in identifying ND-SBA is extremely variable. Large studies are needed in order to identify objective and combined criteria for the diagnosis of these anomalies.