Fetal intra-abdominal bowel dilation in prediction of complex gastroschisis.

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%. CONCLUSION: 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.

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.

Dilated cerebral venous system observed in growth-restricted fetuses.

PURPOSE: The dilation of the fetal cerebral veins is a rare phenomenon that may be associated to a bad obstetric outcome, and is usually connected to antenatal thrombosis of the posterior dural venous sinuses. There are several descriptions of cerebral vein distension on magnetic resonance imaging (MRI), but all of them are detected postnatally. We present herein two cases of fetal antenatal cerebral dilation of the venous system, without any association to any sign of vein thrombosis, and a systematic review of literature regarding pathogenesis, diagnosis and outcomes associated to the antenatal detection of this condition with the use of MRI. MATERIALS AND METHODS: To identify potentially eligible studies, we searched PubMed, Scopus, Cochrane Library (all from inception to October 20th, 2016) and applied no language restrictions. RESULTS: The electronic database search provided a total of 22,843 results. After the exclusion of duplicates, manuscripts that resulted not relevant to the review based on title and abstract screening, and analysis of manuscripts eligible for full-text assessment, no papers were found related to the subject reported in the present manuscript. CONCLUSIONS: Our report adds importance to MRI as a tool in cases of complex ultrasound finding with the presence of fetal heart failure and deterioration of fetal growth, in order to improve the prognostic evaluation and patient?s counseling.

Accuracy of antenatal ultrasound signs in predicting the risk for bowel atresia in patients with gastroschisis.

OBJECTIVE: Evaluate accuracy of prenatal ultrasound findings in predicting the risk of bowel atresia in patients with gastroschisis. METHODS: A retrospective study was conducted on 18 fetuses with a prenatal diagnostic of gastroschisis treated at University hospital of Saint Etienne France between 2002 and 2012. Ultrasound abnormalities were used to classify them into three groups: no ultrasound abnormality (n=4), oligohydramnios (n=9), intra-abdominal bowel dilatation ≥20.5mm (n=5). Postnatal outcomes were compared between groups. The threshold value of 20.5mm for the prediction of atresia was determined through the receiver operator characteristics curve. RESULTS: In the group with oligohydramnios, intra uterine growth restriction were significantly more frequent (p=0.015) and three newborns had serositis including two with secondary complications after the initial surgery. In the group with major intra-abdominal bowel dilatation, all had a narrow defect <10mm significantly more than other fetuses (p=0.002). Intra-abdominal bowel dilatation reaching 20.5mm started at a mean gestational age significantly lower than that of the other fetuses (23.3 versus 29.7 weeks p=0.02). On the five fetuses presented intra-abdominal bowel dilatation ≥20.5mm, four showed atresia and no other newborn has this complication (p=0.0016). The threshold value of 20.5mm has a sensitivity of 100% and a specificity of 92.9%. The area under the curve was equal to 96.4%. CONCLUSION: Intra-abdominal bowel dilatation ≥20.5mm seems to be associated with the risk of postnatal atresia. MRI could help to clarify a complicated or uncertain ultrasound aspect.

Effects of transforming growth factor on the developing embryonic ureter: An in-vitro megaureter model in mice.

INTRODUCTION: It is generally agreed that the cause of a megaureter is narrowing at the vesicoureteral junction, with a functional obstruction arising from an aperistaltic, juxtavesical segment that is unable to transport urine at an acceptable rate. Histological examinations of megaureter specimens have reported several histological analyses, and the pathogenic role of transforming growth factor is still a matter of speculation. OBJECTIVE: To evaluate whether transforming growth factor-beta (TGF-ß) and its receptors (TGFRs) are expressed during ureterovesical junction (UVJ) and lower ureter development in mice, and whether exogenous TGF-ß might postpone the maturation of smooth muscle cells, in the pathogenesis of megaureter using an embryonic organ-culture model. METHODS: Expression of TGF-ß and TGFRs on the lower ureter and UVJ were determined at different embryonic days (E) (E16, 18, 20 and postnatal day 1). The functional studies were performed by harvesting ureters from wild-type mice at embryonic day 16 (E16), which were grown in serum-free organ-culture; some cultures were supplemented with TGF-ß (2 and 20 ng/ml) and/or with soluble TGFR, which blocks bioactivity. Organs were harvested after 6 days and the expression of CD31 and Ki67 were assessed using immunohistochemistry. The muscle content of the UVJ and ureter were analyzed by flowcytometry. RESULTS: The TGF-ß and TGFR positive cells were immune detected in embryonic ureters. The TGF-ß expression was highest on E18 and decreased postnatally. Exogenous TGF-ß decreased ureterovesical (UV) muscle differentiation and proliferation. The longitudinal muscle fibers were significantly less in TGF-ß explants. The TGF-ß also decreased the proportions of cells expressing α smooth muscle actin (α-SMA). Soluble TGFR blocked the effects of exogenous TGF-ß. CONCLUSIONS: In organ culture, exogenous TGF-ß postpones the UV smooth muscle proliferation and affects the muscular structure. Whether the effects of TGF-ß are direct or indirect, these form an in-vitro megaureter model. The finding that TGF-ß is highest in embryonic ureters in vivo and decreased postnatally suggests that a pathological persistence might potentially explain the pathogenesis of primary megaureters.

Gastroschisis: antenatal sonographic predictors of adverse neonatal outcome.

OBJECTIVES: The aim of this review was to identify clinically significant ultrasound predictors of adverse neonatal outcome in fetal gastroschisis. METHODS: A quasi-systematic review was conducted in PubMed and Ovid using the key terms "gastroschisis," "predictors," "outcome," and "ultrasound." RESULTS: A total of 18 papers were included. The most common sonographic predictors were intra-abdominal bowel dilatation (IABD), intrauterine growth restriction (IUGR), and bowel dilatation not otherwise specified (NOS). Three ultrasound markers were consistently found to be statistically insignificant with respect to predicting adverse outcome including abdominal circumference, stomach herniation and dilatation, and extra-abdominal bowel dilatation (EABD). CONCLUSIONS: Gastroschisis is associated with several comorbidities, yet there is much discrepancy in the literature regarding which specific ultrasound markers best predict adverse neonatal outcomes. Future research should include prospective trials with larger sample sizes and use well-defined and consistent definitions of the adverse outcomes investigated with consideration given to IABD.

Can we select fetuses with intra-abdominal calcification for delivery in neonatal surgical centres?

BACKGROUND: Prenatal ultrasound (US) diagnosis of fetal intra-abdominal calcification (iAC) is frequently caused by an in utero perforation causing meconium peritonitis. Our ability to predict which fetuses will require postnatal surgery is limited. The aim of our study is to correlate iAC and associated US findings with postnatal outcome. METHODS: A single centre retrospective review of all cases of fetal iAC diagnosed between 2004 and 2010 was performed. Maternal demographics, fetal US findings, and outcomes (need for surgery and mortality) were collected. Descriptive and comparative statistical analyses were performed. RESULTS: Twenty-three cases of iAC were identified. There were no cases of fetal demise or postnatal deaths. Three liveborns (13%) required abdominal surgery at a median of 2 days (0-3) for intestinal atresia. US findings of iAC and dilated bowel with (p=0.008) or without (p=0.005) polyhydramnios predicted a need for postnatal surgery as did the combination of iAC, polyhydramnios, and ascites (p=0.008). Conversely, iAC alone or associated with oligohydramnios, polyhydramnios, ascites, or growth restriction did not predict need for postnatal surgery. CONCLUSION: The majority of fetuses with iAC on prenatal US do not require surgery. Associated US findings (bowel dilation) can be used to select fetuses for delivery in neonatal surgical centres.

Outcomes of fetuses with lower urinary tract obstruction treated with vesicoamniotic shunt: a single-institution experience.

PURPOSE: The purpose of this manuscript was to examine the outcomes of patients with lower urinary tract obstruction (LUTO) treated with vesicoamniotic shunt (VAS) to improve the quality of prenatal consultation and therapy. METHODS: The medical records of all patients diagnosed with LUTO at our center between January 2004 and March 2012 were reviewed retrospectively. RESULTS: Of 14 male fetuses with LUTO, all with characteristic ultrasound findings, 11 underwent intervention. One patient received vesicocentesis alone, while 10 had VAS. Two fetuses additionally underwent cystoscopy (one with attempted valve ablation), and two had peritoneoamniotic shunts. Of 16 total VAS, 13 were placed successfully, 8 dislodged (median 7 days), and 1 obstructed (84 days). Two fetuses suffered in utero demise, and two have unknown outcomes. LUTO was confirmed in six of eight live-born fetuses. One patient died in the neonatal period, while seven survived. All six available at follow-up (median 3.7 years), had significant genitourinary morbidity. Five patients had chronic kidney disease, but only one has required dialysis and transplant. Three had respiratory insufficiency, and one required a tracheostomy. CONCLUSION: Despite significant perinatal and long-term morbidity, VAS offers patients faced with a poor prognosis an improved chance of survival. Our results underscore the need for further research into the diagnosis and treatment of LUTO.

Dilated fourth ventricle in fetuses with trisomy 18, trisomy 13 and triploidy at 11-13 weeks' gestation.

OBJECTIVE: To determine if in fetuses with aneuploidies the diameter of the fourth cerebral ventricle at 11-13 weeks' gestation is different from euploid fetuses. METHODS: The fourth ventricle at 11-13 weeks' gestation was assessed in 62 cases of trisomy 21, 32 of trisomy 18, 10 of trisomy 13, and 12 of triploidy and compared to 410 normal euploid fetuses. Transvaginal sonography was carried out and 3D brain volumes were acquired. The fetal head was assessed in an axial plane and the diameter of the fourth ventricle was measured. Values in aneuploid and euploid fetuses were compared. RESULTS: The diameter of the fourth ventricle in trisomy 18, trisomy 13 and triploidy, but not in trisomy 21, was significantly higher than in euploid fetuses. In the euploid fetuses the median diameter of the fourth ventricle was 1.9 mm and the 95th percentile was 2.5 mm. The measurements were above the median and the 95th percentile in 25 (78.1%) and 17 (53.1%) cases of trisomy 18, in 10 (100%) and 8 (80.0%) of trisomy 13, and in 10 (83.3%) and 10 (83.3%) of triploidy. CONCLUSIONS: In trisomy 18, trisomy 13 and triploidy the diameter of the fourth ventricle at 11-13 weeks' gestation is increased.

Progesterone induced mesenchymal differentiation and rescued cystic dilation of renal tubules of Pkd1(-/-) mice.

Autosomal dominant polycystic kidney disease (ADPKD), the most common hereditary disease affecting the kidneys, is caused in 85% of cases by mutations in the PKD1 gene. The protein encoded by this gene, polycystin-1, is a renal epithelial cell membrane mechanoreceptor, sensing morphogenetic cues in the extracellular environment, which regulate the tissue architecture and differentiation. However, how such mutations result in the formation of cysts is still unclear. We performed a precise characterization of mesenchymal differentiation using PAX2, WNT4 and WT1 as a marker, which revealed that impairment of the differentiation process preceded the development of cysts in Pkd1(-/-) mice. We performed an in vitro organ culture and found that progesterone and a derivative thereof facilitated mesenchymal differentiation, and partially prevented the formation of cysts in Pkd1(-/-) kidneys. An injection of progesterone or this derivative into the intraperitoneal space of pregnant females also improved the survival of Pkd1(-/-) embryos. Our findings suggest that compounds which enhance mesenchymal differentiation in the nephrogenesis might be useful for the therapeutic approach to prevent the formation of cysts in ADPKD patients.

Gastroschisis with intestinal atresia--predictive value of antenatal diagnosis and outcome of postnatal treatment.

PURPOSE: The purpose of this study is to evaluate (1) the predictive value of fetal bowel dilatation (FBD) for intestinal atresia in gastroschisis and (2) the postnatal management and outcome of this condition. METHODS: A retrospective review of all gastroschisis cases diagnosed in our fetal medicine unit between 1992 and 2010 and treated postnatally in our center was performed. RESULTS: One hundred thirty cases had full postnatal data available. Intestinal atresia was found at surgery in 14 neonates (jejunum, n = 6; ileum, n = 3; ascending colon, n = 3; multiple, n = 2). Polyhydramnios and FBD were more likely in the atresia group compared with infants with no atresia (P = .0003 and P = .005, respectively). Fetal bowel dilatation had 99% negative predictive value (95% confidence interval, 0.9-0.99) and 17% positive predictive value (95% confidence interval, 0.1-0.3) for atresia. Treatment of intestinal atresia included primary anastomosis (n = 5), delayed anastomosis (n = 2), and stoma formation followed by anastomosis (n = 7). Infants with atresia had longer duration of parenteral nutrition, higher incidence of sepsis, and cholestasis compared with infants with no atresia (P = .0003). However, the presence of atresia did not increase mortality. CONCLUSIONS: Polyhydramnios and FBD are associated with atresia. Absence of FBD in gastroschisis excludes intestinal atresia. In our experience, atresia is associated with a longer duration of parenteral nutrition but does not influence mortality. These findings may be relevant for antenatal counseling.

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.

Prenatal ultrasound in the prediction of bowel obstruction in infants with gastroschisis.

OBJECTIVE: To assess the value of prenatal ultrasound in predicting bowel obstruction requiring surgery in fetuses with prenatal diagnosis of gastroschisis. METHODS: The database of our center was searched for cases with an antenatal diagnosis of gastroschisis. The ultrasound images were reviewed blindly to assess the presence of intra- or extra-abdominal bowel dilatation. Details of surgical procedures were noted and the discharge letters were obtained. Pediatric follow-up was also obtained from pediatric surgeons, general practitioners or parents. RESULTS: In the 10-year period between November 1998 and September 2008 there were 62 cases with a prenatal diagnosis of gastroschisis. Postnatal outcome was not available for five cases, four pregnancies underwent termination and intrauterine fetal demise occurred in five cases. A final population of 48 liveborn infants was available for analysis. Intra-abdominal bowel dilatation was identified in 14 of these 48 fetuses (29.2%) and extra-abdominal bowel dilatation in 30 (62.5%) fetuses on prenatal ultrasound images. Eight fetuses (16.7%) had bowel obstruction. The relative risk of bowel obstruction with intra-abdominal bowel dilatation was 4.05 (95% CI, 1.12-14.70). On the other hand, the relative risk of bowel obstruction with extra-abdominal bowel dilatation was 1.0 (95% CI, 0.37-3.70). Four babies died, two of whom had intra- and one had extra-abdominal bowel dilatation. CONCLUSIONS: Intra-abdominal dilatation of the bowel on prenatal ultrasound examination appears to predict postnatal bowel obstruction and the need for surgical resection. Extra-abdominal bowel dilatation is observed frequently on prenatal ultrasound scans, but is not predictive of bowel obstruction.

Predicting the outcome of newborns with gastroschisis.

OBJECTIVE: The objective of the study was to determine factors predicting outcome in newborns with gastroschisis. METHODS: A retrospective analysis of 155 consecutive cases admitted from 1 January 1990 to 31 December 2007 was performed. Prenatal ultrasound findings were available for 89 of 155 (57%) patients and were compared with final outcome. Both univariate and multiple regression analyses were used. RESULTS: All patients survived to discharge home. The primary outcome measure was length of stay. Multiple regression identified 4 factors associated with length of stay: (1) gestational age (P = .004), (2) nonelective silo (P < .001), (3) gastrointestinal (GI) complication (intestinal atresia, perforation, or resection) (P < .001), and (4) non-GI anomaly (P = .029). Non-GI anomalies occurred in 17 of 155 (11%) patients and tended to increase the risk of a nonelective silo or GI complication (59% vs 39%, P = .190). Dilated bowel (>10 mm) on prenatal ultrasound was associated with GI complications (22% vs 3%, P = .010). However, 78% of patients with dilated bowel on prenatal ultrasound did not have a GI complication. The absence of dilated bowel on prenatal ultrasound accurately predicted the absence of GI complications in 97% of cases. CONCLUSION: Prematurity, nonelective silo, GI complications, and non-GI anomalies predict the short-term outcome of newborns with gastroschisis. Prenatal ultrasound serves primarily to predict the absence of GI complications.

Prenatal resolution of megacystis possibly caused by spontaneous rupture of posterior urethral valves.

We report herein a case of resolution of severe megacystis, possibly caused by spontaneous rupture of posterior urethral valves during follow-up on a prenatal ultrasound. A 32-year-old woman presented at gestational week 15 for evaluation of fetal bladder enlargement. Prenatal ultrasonography revealed megacystis and posterior urethral dilatation. The longitudinal diameter of the bladder was 25 mm. Megacystis spontaneously resolved at gestational week 16. No association with urinary ascites was observed, and amniotic fluid volume remained normal throughout gestation. A boy was delivered vaginally at week 37. Apgar scores were 8 at 1 minute and 9 at 5 minutes. The neonate voided smoothly. Ultrasonography revealed a thickened bladder wall and normal kidneys and upper urinary tracts. Voiding cystourethrography showed dilatation of the posterior urethra but confirmed normal bladder capacity with smooth voiding and no vesicoureteral reflux. On day 57, remnant valves were incised. Postoperatively, filling cystometry showed a compliant bladder with no involuntary phasic contraction. At 7 months follow-up, the infant was asymptomatic, and ultrasonography showed some improvement of bladder wall thickness. Resolution of megacystis in utero appears to have resulted from spontaneous rupture of the posterior urethral valves. To the best of our knowledge, no similar cases have been previously reported.

Multiple jejunoileal atresia and colonic atresia managed by multiple primary anastomosis with a single gastroperineal transanastomotic tube without stomas.

Multiple jejunoileal atresia is a challenge to the pediatric surgeon. The aim of the study is to preserve bowel length and prevent the long-term complications of short bowel syndrome. The authors present a rare case of combined multiple jejunoileal atresia and colonic atresia managed by 9 primary anastomoses over a gastroperineal transanastomotic tube. This technique avoided the use of stomas and their attendant complications.

Visual development in infants with prenatal post-haemorrhagic ventricular dilatation.

OBJECTIVE: The aim of this study was to assess visual function in 13 infants with evidence of prenatal post haemorrhagic ventricular dilatation. DESIGN: Infants were assessed at 5, 12 and 24 months using a battery of tests specifically designed to assess various aspects of visual function in infancy. Visual findings were correlated with several variables, including extent of the lesion and presence of epilepsy. RESULTS AND CONCLUSIONS: Abnormalities of visual function were frequent (over 60%) in our cohort at age 2 years, ranging from isolated abnormal ocular movements to severe abnormalities of all the aspects of visual function assessed. The most severe and persistent abnormalities of visual function were found in infants with grade IV intraventricular haemorrhage and shunted hydrocephalus who also had epilepsy in the first year.