MR Imaging of the Fetal Gastrointestinal Anomalies.

Fetal MR imaging has been shown to be a useful tool for the diagnosis of fetal gastro-intestinal pathologies. To recognize the various pathologies, it is, however, essential to know the normal MR imaging appearance of the fetal bowel at various gestational ages. By providing additional information to ultrasound in case of a fetal gastrointestinal anomaly, MR imaging helps to improve planning for the delivery, postnatal management, and improves parental counseling.

The role of multimodal ultrasound in diagnosis of fetal bowel dilatation and prediction of adverse neonatal outcomes: A study of 86 cases in a series of 43,562 births.

Objective: To investigate the diagnostic utility of multimodal ultrasound for fetal bowel dilatation (FBD) in different parts of the bowel and to examine its prognostic potential in FBD. Methods: This retrospective study analyzed 86 fetuses with a dilated bowel identified via ultrasound in a 10-month postnatal follow-up. Both two- and three dimensional (2D and 3D, respectively) ultrasound volume imaging were used to characterize dilation across different bowel sections. The optimal intestinal diameter cut-off values for pathological bowel dilatation were determined and a predictive model for neonatal surgery was developed. Results: The 86 cases of dilatation were distributed as follows: duodenal (n = 36); jejunum/ileum (n = 35); and colonic (n = 15). Duodenal dilatations presented the earliest during pregnancy compared to the other 2 groups (24.4 versus [vs.] 29 vs. 33.7 weeks respectively; p < 0.05). Cases with small intestinal dilatation were delivered earlier than those with colonic dilatation (p < 0.05). Infants with duodenal dilatation had the lowest birth weight and the highest rate of multi-system abnormalities (30.6% vs. 5.7% vs. 20%; p < 0.001). More than one-half of the multi-system abnormalities had chromosomal abnormalities (multiple, 54% vs. single, 12.5%; p = 0.015). There were 2 stillbirths, 24 induced labors, 44 postnatal surgeries, and 18 normal cases after birth. In predicting adverse neonatal outcomes of jejunum/ileum dilatation using a cut-off value of 15.5 mm small intestine diameter, sensitivity was 81.5%, specificity was 62.5%, and the area under the receiver operating characteristic curve (AUC) was 0.762 (p < 0.05). For colonic dilatation, using a cut-off value of 21.5 mm colon diameter: sensitivity was 83.3%, specificity was 77.8%, and AUC was 0.861 (p < 0.05). In detecting jejunum/ileum and colonic obstruction, 3D ultrasound demonstrated significantly better diagnostic efficiency than 2D ultrasound (p < 0.05). Using the backward stepwise selection method, a predictive model for neonatal surgery in patients with jejunum/ileum and colonic dilatation was established: logit (P) = -1.58 + (2.32 × polyhydramnios) +(2.0 × ascites) +(1.14 × hyperechogenic bowel). The AUC for the prediction model was 0.874 (p < 0.05), with 76% sensitivity and 94.1% specificity. Conclusions: Duodenal dilatation occurred earlier, with a higher incidence of chromosomal abnormalities and multi-system abnormalities than dilatation of other parts of the bowel. 3D ultrasound played an important role in the detection of jejunum/ileum and colon obstructions. Clinical signs, including polyhydramnios, ascites, and strong echoes in the intestine, can be used to predict neonatal surgery.

Sonographic findings of transient marked proximal bowel dilatation in a growth-restricted fetus at 35 weeks' gestation.

Etiologies underlying the relatively infrequent third-trimester sonographic depiction of dilated fetal bowel include (functional or mechanical) bowel obstruction, intestinal atresia, volvulus, annular pancreas, intestinal malrotation, intussusception, gastrointestinal duplications, cystic fibrosis-associated meconium ileus, congenital chloride diarrhea, microvillus inclusion disease, intestinal neuronal dysplasia, and meconium plug syndrome. Fetal bowel obstruction may be associated with aneuploidy (mostly Trisomy 21 in association with esophageal or duodenal atresia), and rarely select microduplications or deletions. We present unusual sonographic findings associated with transient marked proximal fetal bowel dilatation in association with concurrent development of oligohydramnios, in a growth-restricted fetus at 35 weeks' gestation. This case supports that upon observation of dilated loops of fetal bowel, while not negating the potential need for delivery secondary to potential bowel compromise, consideration should be given for observation in anticipation of potential spontaneous resolution of this condition, especially among growth-restricted fetuses with decreased amniotic fluid volume in prematurity.

Congenital Sodium Diarrhea: Antenatal Diagnosis May Prevent Unnecessary Surgery in the Neonate.

Congenital sodium diarrhea (CSD) is a rare, life-threatening condition characterized by intractable diarrhea, hyponatremia, and metabolic acidosis. It presents similarly to other congenital disorders and, therefore, is often misdiagnosed and mistreated. We present a case of CSD that presented with dilated loops of bowel and polyhydramnios at 18 weeks and was thought to be a congenital bowel obstruction. The patient was therefore managed surgically after birth with a diverting ileostomy, however was later found to have elevated stool sodium levels and metabolic derangements consistent with CSD. Our case demonstrates the need for high index of suspicion for congenital diarrheal disorders to prevent unnecessary surgery and a delay in appropriate medical management of this rare condition.

Ultrasound and Fetal MRI Complementary Contributions to Appropriate Counseling in Small Bowel Obstruction.

OBJECTIVE: Bowel obstructions beyond the duodenum represent a heterogeneous group of congenital anomalies with a highly variable prognosis, the main issue being postnatal short bowel syndrome (SBS). The objective of our study was to evaluate the contributions of fetal MRI in cases of bowel obstruction. MATERIALS AND METHODS: A retrospective analysis of all newborns, for whom both ante-natal ultrasound and fetal MRI were available, referred to our center for suspected bowel obstruction was performed. Examinations were reviewed blinded to the postnatal outcome. Key outcome measures included exact diagnosis and the existence of postoperative SBS. We evaluated the contribution of MRI in determining precise location and etiology of the bowel obstruction, dilatation of the proximal bowel loops, and assessment of the quality of the remaining distal bowel loops. RESULTS: Twenty-five newborns were included. There were 19 single obstructions and 6 complex forms (4 apple peel syndromes and 2 multiple atresias). MRI correctly identified the affected segment of the small bowel in 59.1% of the cases. MRI identified the mechanism of obstruction in 72% of cases. MRI reliably predicted an abnormal appearance of the bowel distal to the obstruction in 100% of the severe cases (3/3) and in 66.7% of complex forms (4/6). CONCLUSION: Our study suggests that fetal MRI, when done in addition to prenatal ultrasound, is contributory in the management of fetuses with suspected bowel obstruction. MRI may be particularly useful in determining the location and origin of the bowel obstruction and in assessing the quality of the bowel distal to the obstruction, which might assist in the prediction of SBS and more detailed prenatal counseling.

Antenatal predictors of intestinal pathologies in fetal bowel dilatation.

AIM: Fetal bowel dilatation (FBD) in the late trimester of pregnancy can be related with varies of prognosis. Our aims were to obtain antenatal factors that might have relevance for the distinct prognosis with FBD. METHODS: Seven features of 68 pregnancies presented with FBD were assessed. The best cut-off value to predict intestinal outcomes was selected using receiver-operating characteristics curves, and the effective variables were included into a logistic regression model. RESULTS: The best cut-off valves to predict intestinal pathologies were 14.5 mm of fetus dilated loop and 37.7 weeks of gestational age at delivery, respectively. The congenital gastrointestinal tract anomalies included 24 cases (92.3%) of intestine atresia, 1 case (3.85%) of small intestine volvulus and 1 case (3.85%) of midgut malrotation. CONCLUSION: Fetal dilated loops and gestational age at delivery are both an independent risk factor for predicting intestinal pathologies of newborns, which should arouse high attention.

Reference curves for the normal fetal small bowel and colon diameters; their usefulness in fetuses with suspected dilated bowel.

Objectives: To establish reference curves of normal fetal small bowel and colon diameters and to assess the clinical applicability.Method: Serial longitudinal ultrasound examinations at 4-week intervals between 20 to 41 weeks of gestation in 39 low-risk fetuses. The largest loop of the small bowel and colon was identified. The bowel lumen short axis was measured. Linear mixed modeling was used to determine individual developmental trajectories. Twenty-eight fetuses with suspected bowel dilatation were analyzed relative to the reference curves.Results: Development of the small bowel and colon diameters was best described by a linear and cubic model, respectively. The intraobserver and interobserver concordance were >0.94. In cases with suspected bowel dilatation, normal fetal outcome occurred if the bowel dilatation was transient. Progressive increase of fetal bowel diameter was associated with pathology after birth. Cases with small bowel pathology had a z-score >8 after 25 weeks of gestation.Conclusion: We provided the first ultrasound reference curves for normal fetal small bowel and colon diameters. Progressive increase in the fetal bowel diameter z-score was highly predictive of intestinal abnormalities after birth. Longitudinal follow-up of dilated fetal bowel is important to distinguish normality from disease.

Clinical Features, Molecular Genetics, and Long-Term Outcome in Congenital Chloride Diarrhea: A Nationwide Study in Japan.

OBJECTIVE: To clarify clinical and genetic features of Japanese children with congenital chloride diarrhea (CCD). STUDY DESIGN: This was a multi-institutional, retrospective survey of 616 pediatric centers in Japan with identified patients with CCD between 2014 and 2018. Mutations involving SLC26A3 were detected by Sanger sequencing. RESULTS: Thirteen patients met all entry criteria including mutations in SLC26A3, and 14 patients satisfied clinical diagnostic criteria. Homozygous or compound heterozygous mutations in SLC26A3, including 6 novel mutations, were identified in 13 of these 14 patients (93%). The most common (detected in 7 of 13) was c.2063-1g>t. Median age at diagnosis was 1 day. Nine of the patients meeting all criteria were diagnosed as neonates (69%). Median follow-up duration was 10 years. When studied, 8 patients had <5 stools daily (62%), and all had fewer than in infancy. Only 1 patient had nephrocalcinosis, and 3 (23%) had mild chronic kidney disease. Neurodevelopment was generally good; only 1 patient required special education. Five patients (38%) received long-term sodium, potassium, and chloride supplementation. CONCLUSIONS: Early fetal ultrasound diagnosis and prompt long-term sodium, potassium, and chloride supplementation were common management features. Genetic analysis of SLC26A3 provided definitive diagnosis of CCD. In contrast with previously reported localities, c.2063-1g>t might be a founder mutation in East Asia.

Estado actual de la gastrosquisis en recién nacidos en el Hospital Nacional Daniel A. Carrión: Serie de casos de 5 años / Gastroschisis in newborns at Hospital Nacional Daniel A. Carrión: Case series in 5 years

La gastrosquisis es un defecto congénito de la pared abdominal que permite la exteriorización del contenido abdominal, cuyo pronóstico dependerá de las complicaciones intestinales asociadas. Es importante la detección prenatal de aquellos casos con riesgo de gastrosquisis compleja. Objetivo. Describir las características epidemiológicas de los recién nacidos con gastrosquisis atendidos en un hospital nacional. Diseño. Serie de casos. Institución. Hospital Nacional Daniel A. Carrión (HNDAC), Lima, Perú. Pacientes. Recién nacidos vivos. Metodología. Estudio de todos los recién nacidos vivos con el diagnóstico de gastrosquisis, en un periodo de 5 años. Se excluyó aquellos con nacimiento extrainstitucional o con datos insuficientes. Principales medidas de resultados. Características y manejo de los recién nacidos con gastrosquisis. Resultados. Se reportaron 17 casos. La incidencia fue 9,7/1 000 nacidos vivos y la mortalidad perinatal 14%; 64,3% nacieron de madres adolescentes, 78% primigestas. El nacimiento ocurrió principalmente por cesárea (71,4%). Existió un pobre registro de predictores ecográficos de complicaciones intestinales. Se realizó cierre primario en 28,6% de los casos. El primer caso de mortalidad ocurrió luego de manejo quirúrgico con silo, falleciendo por sepsis. El segundo caso presentó atresia intestinal requiriendo múltiples cirugías y falleció por atelectasia masiva. Conclusiones. Es necesario estandarizar la valoración y registro de los diversos marcadores pronósticos en gastrosquisis fetal. Es necesario establecer series más largas y mejor documentadas.

Gastroschisis is a congenital defect of the abdominal wall that allows externalization of the abdominal contents; prognosis depends on the associated intestinal complications. Prenatal detection of cases with risk of complex gastroschisis is important. Objective: To describe the epidemiological characteristics of newborns with gastroschisis occurring at a national hospital. Design: Case series. Institution: Hospital Nacional Daniel A. Carrion (HNDAC), Lima, Peru. Patients: Newborns with gastroschisis. Methodology: All live newborns with the diagnosis of gastroschisis in a period of 5 years were studied. Cases born in other institutions or with insufficient data were excluded. Main outcome measures: Characteristics of newborns with gastroschisis and their management. Results: 17 cases were reported with an incidence of 9.7/1 000 live newborns and with a perinatal mortality of 14%; 64.3% were born to an adolescent mother, of which 78% carried their first pregnancy. The main delivery mode was cesarean section (71.4%). There were poor records of ultrasonographic predictors of intestinal complications. Primary closure was performed in 28.6% of cases. The first case of death occurred after surgery with silo and died from sepsis. The second case had intestinal atresia requiring multiple surgeries and died due to massive atelectasis. Conclusions: It is necessary to standardize the assessment and registration of various prognostic markers in fetal gastroschisis. More and better documented series are necessary.

Role of intraluminal bowel echogenicity on prenatal ultrasounds to determine the anatomical level of intestinal atresia.

OBJECTIVE: To evaluate the correlation between different degrees of bowel intraluminal echogenicity showed by prenatal ultrasounds and the anatomic level of intestinal atresia. METHODS: We report three cases of intestinal atresia at different intestinal levels verified during the neonatal surgery with specific ultrasonographic prenatal features. Intensity of sonolucency was analyzed using the image-processing program ImageJ for quantitative measurements based on the gray-scale intensity values. RESULTS: A total of three cases are reported, a jejunal, an ileal and a colonic atresia. All cases showed intestinal dilatation. Both, jejunal and ileal atresia, showed two degrees of hypoechoic intestinal content, while colonic atresia showed hyperechogenic content dilated loop at prenatal ultrasound scan. CONCLUSIONS: We propose the use of prenatal ultrasounds echogenicity of intestinal dilated loop fluid content to help in determining the level of obstruction in bowel atresia. These are initial results, to be confirmed by a multicentric research with more cases.

In utero development of the fetal intestine: Sonographic evaluation and correlation with gestational age and fetal maturity in dogs.

Modern high-resolution ultrasound images enable earlier assessment of measures of fetal development, including identification of the bowel. The aim of this study was to describe the ultrasonographic development of fetal bowel and correlate this with gestational age; define whether ultrasonographic visualization of fetal intestinal peristalsis in utero is associated with fetal maturation and determine whether there is a difference in fetal intestinal peristalsis detection time between fetuses delivered by normal delivery and cesarean. A cohort study was conducted in pregnant bitches presented to a veterinary hospital, to assess fetal bowel development. Statistical analysis was used to establish the correlation of the stage of fetal bowel development, as recorded by ultrasound, with outcomes of normal delivery and cesarean section. The study was broken down into three stages: the first stage was a descriptive analysis of fetal bowel development by ultrasound; the second stage compared time (in days) of bowel development between groups (normal delivery vs. cesarean); and the third stage was correlated survival probability for fetuses born on any day after detection of intestinal peristalsis with fetal maturity. All statistical analyses were significant. It is possible to monitor pregnancy progression using ultrasonographic evaluation of bowel development and this can reliably identify the end of fetal organogenesis. However, ultrasonographic detection of bowel segments with visualization of wall layers and associated peristalsis should not be used as the sole indicator for cesarean section planning because it is not possible to determine ultrasonographically whether the bowel is functional (mature).

Suspected fetal onset of neonatal transient eosinophilic colitis and development of respiratory distress.

Neonatal transient eosinophilic colitis (NTEC) is a new disease concept within eosinophilic gastroenteritis, which was proposed by Ohtsuka et al. It causes hematochezia as a result of eosinophilia, in neonates who have not yet started to receive enteral nutrition, although the whole-body status of the infant is in fact relatively good. To date, there have been no reports of this disease in which abnormalities were noted during gestation, and the clinical phenomena surrounding it, along with any complications, are not yet clear. We encountered a suspected case of NTEC causing respiratory distress with aspiration of hematochezia, in which dilated bowel was noted during gestation. This case indicates that NTEC may occur at the fetal stage and be complicated by respiratory distress.

[Hyperechogenic fetal bowel: Which fetal and neonatal outcome? A French study of 149 cases]. / Hyperéchogénicité intestinale fœtale : quel bilan proposer et quel pronostic ? À propos d'une série continue de 149 patientes.

OBJECTIVES: In case of hyperechogenic fetal bowel (HFB), invasive procedures such as amniocentesis are often proposed to detect an underlying cause. Our goal is to study etiologies and prognosis of HFB according to antenatal sonographic findings in order to evaluate the relevance of antenatal assessment. MATERIALS AND METHODS: It is a retrospective monocentric study lead from 2008 to 2012, including all patients with a suspicion of HFB on routine sonography. We analysed the antenatal and neonatal results, distinguishing four situations: isolated HFB, HFB+other digestive anomalies, HFB+vascular pathology, HFB+other associated anomalies. RESULTS: For 149 patients, HBF was confirmed. Sixty-nine were isolated HFB, 24 associated with other digestive anomalies, 16 with vascular pathology and 40 with other anomalies. Pregnancy outcomes were different with 92.8, 41.7, 0 and 45.0% of healthy newborns. In the case of isolated HBF, we noted 2.9% cystic fibrosis and 2.9% congenital infection. CONCLUSION: Isolated HBF seems to have a better prognosis than associated forms. However, prenatal investigations to eliminate cystic fibrosis or congenital infection should be offered and may be initially non-invasive, if a larger series confirmed the absence of dyschromosomy in this population.

[Neonatal outcome of fetal hyperechogenic bowel]. / Devenir néonatal des fœtus présentant un intestin hyperéchogène.

OBJECTIVE: Echogenic bowel (EB) represents 1 % of pregnancy and is a risk factor of fetal pathology (infection, cystic fibrosis, aneuploidy). The aim of our study was to determine the fetuses' outcomes with isolated EB. PATIENTS AND METHODS: This is a retrospective study of all patients who presented singleton gestations with a fetal isolated echogenic bowel between 2004 and 2011 in two prenatal diagnosis centers. Search of aneuploidy, infection and cystic fibrosis was systematically proposed as well as an ultrasound monitoring. RESULTS: On 109 fetus addressed for isolate echogenic bowel five had other signs associated and 74 had a real isolated echogenic bowel (without dilatation, calcification, intrauterine growth restriction). In 30 cases, the EB was not found. Eighty-five percent of the patients had in the first trimester a screening for trisomy 21. None fetus with isolated EB had trisomy, infection or cystic fibrosis. One fetus died in utero and one newborn died of a metabolic disease without digestive repercussions. DISCUSSION AND CONCLUSION: The risk of trisomy 21 and the risk to have a serious disease appear low for the fetus with EB. It does not seem necessary to propose a systematic amniocentesis in case of isolated echogenic bowel.

Effect of B-mode optimization techniques on fetal bowel echogenicity using computerized image analysis.

OBJECTIVES: The purpose of this study was to provide and compare measurable parameters for normal fetal bowel echogenicity under predefined B-mode scanning presets. METHODS: Forty healthy fetuses underwent 14- to 17-week ultrasound scans, and 40 underwent 21- to 25-week scans. Sagittal, coronal, and axial fetal abdominal images were tested using predefined B-mode presets. The presets differed from fundamental imaging by isolated activation of harmonic imaging, compound resolution imaging, speckle reduction imaging, focus and frequency composite imaging, and coded excitation imaging features. A transabdominal probe was used in all fetuses, and transvaginal images were added for the 14- to 17-week scans. The images were studied with custom-developed software, which provided a grayscale analysis of the pixels in the region of interest within the image. The mean brightness of the pixels from the fetal bowel area was calculated. RESULTS: The 14- to 17-week transabdominal scans showed significantly higher mean brightness on harmonic imaging compared to fundamental imaging (P < .01). Activation of coded excitation and compound resolution imaging in these scans resulted in a significant decrease in the mean brightness compared to fundamental imaging. Mean bowel brightness values on the 21- to 25-week transabdominal scans did not differ significantly with the use of the different imaging presets compared to fundamental imaging. CONCLUSIONS: Transabdominal harmonic imaging in the early second trimester may significantly increase the mean brightness of the fetal bowel tissue. Contrarily, compound resolution imaging and coded excitation imaging produce the opposite effect on bowel echogenicity.

Hyperechogenic fetal bowel: an ultrasonographic marker for adverse fetal and neonatal outcome?

"Soft markers" are considered variants of normal and should be considered distinct from fetal anatomic malformations. Hyperechogenicity of the fetal bowel, is one of the few soft markers that can also associated with a variety of other pathologic conditions. In this review we will focalise our attention on the significate of an increased echogenicity of fetal bowel and on management of fetuses with this condition.