Hyperechogenic fetal bowel: Current evidence-based prenatal diagnosis and management.

Echogenic fetal bowel (EB) is a prenatal ultrasound finding (0.2%-1.4% of all pregnancies) defined as bowel of similar or greater echogenicity than surrounding bone. In fact, the ultrasound assessment is strongly subjective with inter-observer variability. The pathophysiology depends on the underlying condition, apparently related with meconium stasis and hypercellularity. It is often an isolated finding, with possible association with other structural anomalies. About the origin, it was observed in fetuses with cystic fibrosis, congenital infections, thalassemia, intraamniotic bleeding, fetal growth restriction. Fetuses with EB are at increased risk of adverse perinatal outcome, such as intrauterine growth restriction, placental dysfunction and perinatal death, highlighting the need for a thorough antenatal management and post-natal follow-up. It seems to be associated with a plenty of conditions, such as a poor fetal outcome, fetal growth restriction and placental dysfunction. Therefore management requires a multidisciplinary approach with different specialties' involvement and the prognosis is influenced by the underlying pathophysiology. In this complex scenario, the present review aims to define the clinical pathway which should be offered to pregnant women in case of finding of fetal EB ultrasound marker, to rule out any suspected pathological cause.

Intususcepción intestinal en el contexto de una apendicitis aguda / Intestinal intussusception in the context of acute appendicitis: a case report and lit-erature review

Introducción: La intususcepción es una patología abdominal idiopá-tica o secundaria a procesos intesti-nales que actúan como puntos de partida para la invaginación. Se han descrito casos de arrastre de estruc-turas que derivan en otros procesos inflamatorios como la apendicitis aguda. Caso clínico: Niño 3 años, con dolor abdominal de 6 horas de evolución. Al examen físico se pre-senta pálido, somnoliento, taqui-cárdico y deshidratado. El abdo-men con signos apendiculares posi-tivos, con palpación en masa en fosa iliaca derecha. Taller diagnóstico: Leucocitos 9690 u/mm3, neutrófilos 58.1%. Ecografía con imagen sugerente de intususcepción intestinal con cam-bios inflamatorios en la grasa me-sentérica. Se realiza tomografía abdominal que reporta intususcep-ción ileocolónica de 47 x 50 mm, con múltiples ganglios reactivos mesentéricos, con imagen apendicu-lar en dirección pélvica, con apendi-colito en su interior. Evolución: El manejo quirúrgico incluyó una laparotomía explorato-ria con desinvaginación manual y apendicectomía convencional. El reporte de patología fue apendicitis aguda supurativa. El paciente 48 horas hospitalizado, recibió Ampici-lina + Sulbactam y analgesia. Al mejorar la función abdominal fue dado de alta. Conclusiones: En este caso la apendicitis aguda fue la causa de intususección intestinal con el signo ecográfico de la "diana" en un paciente de 3 años de edad.

Introduction: Intussusception is an idiopathic abdominal pathology or secondary to intestinal processes that act as starting points for intussusception. Cases of dragging of structures that lead to other inflammatory processes, such as acute appendicitis, have been described. Clinical case: 3-year-old boy with abdominal pain of 6 hours of evolution. On physical examination, he appears pale, drowsy, tachycardic, and dehydrated. The abdomen with positive appendiceal signs, with palpation of a mass in the right iliac fossa. Diagnostic workshop: leukocytes 9690 u/mm3, neutrophils 58.1%. Ultrasound with image suggestive of intestinal intussusception with inflammatory changes in the mesenteric fat. An abdominal tomography was performed that reported ileocolonic intussusception of 47 x 50 mm, with multiple mesenteric reactive nodes, an appendicular image in the pelvic direction, and an appendicolith inside. Evolution: Surgical management included an exploratory laparotomy with manual evagination and conventional appendectomy. The pathology report was acute suppurative appendicitis. The patient was hospitalized for 48 hours and received Ampicillin + Sulbac-tam and analgesia. When abdominal function improved, he was discharged. Conclusions: In this case, acute appendicitis was the cause of intestinal intussusception with the ultrasound sign of the "target" in a 3-year-old patient.

Association between fetal echogenic and/or dilated bowel and adverse perinatal outcomes.

BACKGROUND: Echogenic and/or dilated bowel is uncommonly encountered on prenatal ultrasound and may represent either a panel of differential diagnoses or a transient normal variant with excellent outcome. Prenatal differentiation between the two entities remains uncertain. Here, we aimed to review prenatal cases associated with echogenic and/or dilated bowel and analyze their prospective perinatal outcomes. METHODS: This was a retrospective cohort study, carried out at a single center. All relevant data was retrieved from the hospital electronic records. Bowel echogenicity is defined as grade 0-3, in relation to the surrounding liver or bone echogenicity. Bowel dilatation is defined as the largest diameter >7 mm with the length >15 mm. RESULTS: Out of 59 cases with prenatal echogenic and or dilated bowel, 32 cases were analyzed, and 10/32 (31%) neonates among all categories showed intestine related pathologies that required postnatal care. Two out of 19 (11%) cases with echogenic bowel and one out of three (34%) cases with bowel dilatation revealed structural abnormality that required postnatal surgery. All cases were in stable conditions upon discharge from the hospital. There were no cases of perinatal death associated with bowel abnormalities. CONCLUSION: Echogenic bowel in isolation carries a low risk for structural bowel anomalies that require surgery. Dilated bowel represents an increased risk for intestinal obstruction. Combination of two ultrasonographic features, echogenicity and dilatation of the intestine should be considered as a suspicious sign of a genetic syndrome which may alter bowel function but may not require surgery.

Isolated fetal echogenic bowel and iron-rich mineral water supplement: a case series and review of the literature.

Natural iron-rich mineral water (IRMW) is a supplement with a higher iron bioavailability than oral iron supplement tablets. Five (4%) of 116 women who consumed IRMW starting from 16 weeks of gestation were diagnosed as having isolated foetal echogenic bowel at a single community maternity clinic between 2012 and 2015. The workup of all the women was otherwise negative. Four women taking IRMW were re-checked after discontinuation of the supplement and had a normal-appearing foetal bowel. Our observations suggest that isolated echogenic bowel may be related to the consumption of IRMW, possibly due to the high absorption of iron, leading to the coating of the internal wall of the foetal bowel and subsequent appearance of an echogenic bowel. Although this finding appears free of harmful ramifications, its possible sonographic effects on the appearance of the foetal bowel should be considered in light of the increasing popularity of IRMW use.IMPACT STATEMENTWhat is already known on this subject? IRMW is a highly absorbed iron supplement. The differential diagnosis for foetal echogenic bowel is broad and requires thorough investigation. Iron is secreted through the maternal blood to the amniotic fluid, which is swallowed by the foetus, reaching its bowel.What do the results of this study add? IRMW consumption is a possible aetiology of an isolated foetal echogenic bowel in the second half of pregnancy, conveying no risk of foetal morbidity or mortality.What are the implications of these findings for clinical practice and/or further research? In light of the increasing popularity of IRMW, we believe that it is important to increase the level of awareness of the possible effects of its intake on the sonographic appearance of the foetal bowel.

Society for Maternal-Fetal Medicine Consult Series #57: Evaluation and management of isolated soft ultrasound markers for aneuploidy in the second trimester: (Replaces Consults #10, Single umbilical artery, October 2010; #16, Isolated echogenic bowel diagnosed on second-trimester ultrasound, August 2011; #17, Evaluation and management of isolated renal pelviectasis on second-trimester ultrasound, December 2011; #25, Isolated fetal choroid plexus cysts, April 2013; #27, Isolated echogenic intracardiac focus, August 2013).

Soft markers were originally introduced to prenatal ultrasonography to improve the detection of trisomy 21 over that achievable with age-based and serum screening strategies. As prenatal genetic screening strategies have greatly evolved in the last 2 decades, the relative importance of soft markers has shifted. The purpose of this document is to discuss the recommended evaluation and management of isolated soft markers in the context of current maternal serum screening and cell-free DNA screening options. In this document, "isolated" is used to describe a soft marker that has been identified in the absence of any fetal structural anomaly, growth restriction, or additional soft marker following a detailed obstetrical ultrasound examination. In this document, "serum screening methods" refers to all maternal screening strategies, including first-trimester screen, integrated screen, sequential screen, contingent screen, or quad screen. The Society for Maternal-Fetal Medicine recommends the following approach to the evaluation and management of isolated soft markers: (1) we do not recommend diagnostic testing for aneuploidy solely for the evaluation of an isolated soft marker following a negative serum or cell-free DNA screening result (GRADE 1B); (2) for pregnant people with no previous aneuploidy screening and isolated echogenic intracardiac focus, echogenic bowel, urinary tract dilation, or shortened humerus, femur, or both, we recommend counseling to estimate the probability of trisomy 21 and a discussion of options for noninvasive aneuploidy screening with cell-free DNA or quad screen if cell-free DNA is unavailable or cost-prohibitive (GRADE 1B); (3) for pregnant people with no previous aneuploidy screening and isolated thickened nuchal fold or isolated absent or hypoplastic nasal bone, we recommend counseling to estimate the probability of trisomy 21 and a discussion of options for noninvasive aneuploidy screening through cell-free DNA or quad screen if cell-free DNA is unavailable or cost-prohibitive or diagnostic testing via amniocentesis, depending on clinical circumstances and patient preference (GRADE 1B); (4) for pregnant people with no previous aneuploidy screening and isolated choroid plexus cysts, we recommend counseling to estimate the probability of trisomy 18 and a discussion of options for noninvasive aneuploidy screening with cell-free DNA or quad screen if cell-free DNA is unavailable or cost-prohibitive (GRADE 1C); (5) for pregnant people with negative serum or cell-free DNA screening results and an isolated echogenic intracardiac focus, we recommend no further evaluation as this finding is a normal variant of no clinical importance with no indication for fetal echocardiography, follow-up ultrasound imaging, or postnatal evaluation (GRADE 1B); (6) for pregnant people with negative serum or cell-free DNA screening results and isolated fetal echogenic bowel, urinary tract dilation, or shortened humerus, femur, or both, we recommend no further aneuploidy evaluation (GRADE 1B); (7) for pregnant people with negative serum screening results and isolated thickened nuchal fold or absent or hypoplastic nasal bone, we recommend counseling to estimate the probability of trisomy 21 and discussion of options for no further aneuploidy evaluation, noninvasive aneuploidy screening through cell-free DNA, or diagnostic testing via amniocentesis, depending on clinical circumstances and patient preference (GRADE 1B); (8) for pregnant people with negative cell-free DNA screening results and isolated thickened nuchal fold or absent or hypoplastic nasal bone, we recommend no further aneuploidy evaluation (GRADE 1B); (9) for pregnant people with negative serum or cell-free DNA screening results and isolated choroid plexus cysts, we recommend no further aneuploidy evaluation, as this finding is a normal variant of no clinical importance with no indication for follow-up ultrasound imaging or postnatal evaluation (GRADE 1C); (10) for fetuses with isolated echogenic bowel, we recommend an evaluation for cystic fibrosis and fetal cytomegalovirus infection and a third-trimester ultrasound examination for reassessment and evaluation of growth (GRADE 1C); (11) for fetuses with an isolated single umbilical artery, we recommend no additional evaluation for aneuploidy, regardless of whether results of previous aneuploidy screening were low risk or testing was declined. We recommend a third-trimester ultrasound examination to evaluate growth and consideration of weekly antenatal fetal surveillance beginning at 36 0/7 weeks of gestation (GRADE 1C); (12) for fetuses with isolated urinary tract dilation A1, we recommend an ultrasound examination at ≥32 weeks of gestation to determine if postnatal pediatric urology or nephrology follow-up is needed. For fetuses with urinary tract dilation A2-3, we recommend an individualized follow-up ultrasound assessment with planned postnatal follow-up (GRADE 1C); (13) for fetuses with isolated shortened humerus, femur, or both, we recommend a third-trimester ultrasound examination for reassessment and evaluation of growth (GRADE 1C).

Prenatal Ultrasound Suspicion of Cystic Fibrosis in a Multiethnic Population: Is Extensive CFTR Genotyping Needed?

In families without a Cystic Fibrosis (CF) history, fetal ultrasound bowel abnormalities can unexpectedly reveal the disease. Isolated or in association, the signs can be fetal bowel hyperechogenicity, intestinal loop dilatation and non-visualization of fetal gallbladder. In these cases, search for CF transmembrane conductance regulator (CFTR) gene mutations is part of the recommended diagnostic practices, with a search for frequent mutations according to ethnicity, and, in case of the triad of signs, with an exhaustive study of the gene. However, the molecular diagnosis remains a challenge in populations without well-known frequent pathogenic variants. We present a multiethnic cohort of 108 pregnancies with fetal bowel abnormalities in which the parents benefited from an exhaustive study of the CFTR gene. We describe the new homozygous p.Cys1410* mutation in a fetus of African origin. We did not observe the most frequent p.Phe508del mutation in our cohort but evidenced variants undetected by our frequent mutations kit. Thanks to the progress of sequencing techniques and despite the difficulties of interpretation occasionally encountered, we discuss the need to carry out a comprehensive CFTR study in all patients in case of fetal bowel abnormalities.

Outcome of fetal echogenic bowel: A systematic review and meta-analysis.

The main aim of this systematic review was to explore the outcome of fetuses with isolated echogenic bowel (EB) on antenatal ultrasound. Inclusion criteria were singleton pregnancies with isolated EB no associated major structural anomalies at the time of diagnosis. The outcomes observed were: chromosomal anomalies, cystic fibrosis (CF), associated structural anomalies detected only at follow-up scans and at birth, regression during pregnancy, congenital infections, intra-uterine (IUD), neonatal (NND) and perinatal (PND) death. Twenty-five studies (12 971 fetuses) were included. Chromosomal anomalies occurred in 3.3% of the fetuses, mainly Trisomy 21 and aneuploidies involving the sex chromosomes. Cystic fibrosis occurred in 2.2%. Congenital infections affected 2.2%, mainly congenital Cytomegalovirus (CMV) infection. The majority of fetuses with EB experienced regression or disappearance of the EB at follow-up scans. Associated anomalies were detected at a follow-up scan in 1.8%. Associated anomalies were detected at birth and missed at ultrasound in 2.1% of cases. IUD occurred in 3.2% of cases while the corresponding figures for NND and PND were 0.4% and 3.1%. Fetuses with EB are at increased risk of adverse perinatal outcome, highlighting the need for a thorough antenatal management and postnatal follow-up. Assessment during pregnancy and after birth should be performed in order to look for signs of fetal aneuploidy, congenital infections and associated structural anomalies.

Isolated fetal echogenic bowel in a retrospective cohort: The role of infection screening.

OBJECTIVE: Fetal echogenic bowel (FEB) is an ultrasonographic marker of fetal infection. We aimed to determine the utility of infection screening when FEB is isolated. STUDY DESIGN: Retrospective observational study of isolated FEB cases between 2006-2014. Infection screening included toxoplasmosis, rubella, syphilis, cytomegalovirus (CMV), herpes simplex virus and parvovirus B19. Fetal karyotyping, screening for cystic fibrosis (CF) and follow-up scans were also offered, according to international standards. Incidence of infection and 95% confidence interval (CI) were calculated. RESULTS: 148 patients with 154 fetuses were included. 4.7% of mothers developed acute infection: four patients developed CMV infection (2.7%, 95% CI 1.1-6.9%), in two fetuses infection was confirmed with amniocentesis and pregnancies were terminated; Parvovirus B19 infection was detected in 2 patients (1.4%, 95% CI 0.4-5.0) and confirmed in one fetus, which developed anemia; there was one toxoplasmosis maternal infection (0.7%, 95% CI 0.1-3.8%) treated with spyramicin, whose fetus was not infected. Percentage of chromosomal/genetic abnormalities was 3.2%, CF 1.3%, intra-amniotic bleeding 1.3%, FGR 34% and other ultrasonographic abnormalities at follow-up scans 18%. CONCLUSIONS: The association between isolated FEB and fetal infection is uncommon (1.9% in our population). CMV maternal infection screening is supported by our findings, whereas screening for other infections needs to be further investigated.

Microarray analysis in pregnancies with isolated echogenic bowel.

INTRODUCTION: Fetal echogenic bowel is a frequent sonographic finding, demonstrated in about 1% of pregnancies. The advised evaluation of fetal echogenic bowel includes maternal serology, genetic testing for cystic fibrosis, detailed sonographic anatomic survey, and invasive prenatal testing for fetal chromosomal aberrations. The objective of our study was to evaluate the risk for clinically significant chromosomal microarray analysis (CMA) findings in pregnancies with isolated echogenic bowel. METHODS: Data from all CMA analyses performed due to isolated echogenic bowel reported to the Israeli Ministry of Health between January 2013 and September 2016 were retrospectively obtained. Risk estimation was performed comparing the rate of abnormal microarray findings to the control population, based on a systematic review of 9272 pregnancies and a large local cohort of 5541 fetuses with normal ultrasound, undergoing CMA testing due to maternal request. RESULTS: Of 103 CMA analyses performed due to isolated echogenic bowel, two (1.94%) pathogenic findings were detected (47,XYY and 16p11.2 duplication). This risk was not significantly elevated compared to the control groups. In addition, three variants of unknown significance were demonstrated. CONCLUSIONS: To our best knowledge, our study is the first report describing the rate of clinically significant copy number variants in pregnancies with isolated echogenic bowel. According to our results, it seems that pregnancies with isolated echogenic bowel do not have an increased risk for abnormal CMA compared to fetuses with no evidence of sonographic anomalies. Our findings suggest that the consideration to perform CMA analysis in such pregnancies should not differ from any pregnancy with normal ultrasound.

Incidence and Carrier Frequency of CFTR Gene Mutations in Pregnancies With Echogenic Bowel in Nova Scotia and Prince Edward Island.

OBJECTIVE: Fetal echogenic bowel (echogenic bowel) is associated with cystic fibrosis (CF), with a reported incidence ranging from 1% to 13%. Prenatal testing for CF in the setting of echogenic bowel can be done by screening parental or fetal samples for pathogenic CFTR variants. If only one pathogenic variant is identified, sequencing of the CFTR gene can be undertaken, to identify a second pathogenic variant not covered in the standard screening panel. Full gene sequencing, however, also introduces the potential to identify variants of uncertain significance (VUSs) that can create counselling challenges and cause parental anxiety. To provide accurate counselling for families in the study population, the incidence of CF associated with echogenic bowel and the carrier frequency of CFTR variants were investigated. METHODS: All pregnancies for which CF testing was undertaken for the indication of echogenic bowel (from Nova Scotia and Prince Edward Island) were identified (January 2007-July 2017). The CFTR screening and sequencing results were reviewed, and fetal outcomes related to CF were assessed. RESULTS: A total of 463 pregnancies with echogenic bowel were tested. Four were confirmed to be affected with CF, giving an incidence of 0.9% in this cohort. The carrier frequency of CF among all parents in the cohort was 5.0% (1 in 20); however, when excluding parents of affected fetuses, the carrier frequency for the population was estimated at 4.1% (1 in 25). CFTR gene sequencing identified an additional VUS in two samples. CONCLUSION: The incidence of CF in pregnancies with echogenic bowel in Nova Scotia and Prince Edward Island is 0.9%, with an estimated population carrier frequency of 4.1%. These results provide the basis for improved counselling to assess the risk of CF in the pregnancy, after parental carrier screening, using Bayesian probability. Counselling regarding VUSs should be undertaken before gene sequencing.

Adverse Perinatal Conditions Associated With Prenatally Detected Fetal Echogenic Bowel in Nova Scotia.

OBJECTIVE: This study sought to estimate the association of adverse perinatal outcomes with pregnancies complicated by fetal echogenic bowel. METHODS: Data for pregnancies complicated with echogenic bowel identified in the second trimester were derived from the tertiary referral IWK Health Centre (Halifax, NS) Viewpoint Ultrasound Database augmented by medical chart review. The study was undertaken between 2003 and 2014. Rates of positive cytomegalovirus and toxoplasmosis infection were determined using maternal serology and amniocentesis results. Rates of intrauterine growth restriction, abnormal karyotype, cystic fibrosis, antenatal bleeding, and bowel abnormalities were also determined. Neonatal information included newborn urine culture results and postnatal genetic testing. Univariate analyses compared rates of infection with isolated echogenic bowel and echogenic bowel with other ultrasound findings, with statistical significance set at P <0.05. RESULTS: There were 422 pregnancies identified prenatally with echogenic bowel (82% had isolated echogenic bowel). Of these, 92 (22%) had at least one of the foregoing associated abnormalities. Three percent of women had serologic test results positive for cytomegalovirus or toxoplasmosis, with <1% documented newborn infections. Cystic fibrosis and other genetic diagnoses were observed in 8%, intrauterine growth restriction in 14%, antenatal bleeding in 19%, and bowel abnormalities in 3% of the cases of echogenic bowel. Pregnancies with isolated echogenic bowel had an 80% reduction in risk for these significant outcomes, in contrast to a four- to 11-fold increased risk of specific outcomes when additional ultrasound findings were present. CONCLUSION: An overall rate of adverse conditions of 22% with prenatally detected echogenic bowel serves to inform women and health care providers and emphasizes the importance of careful screening fetal ultrasound studies and timely referral for comprehensive assessment with findings of echogenic bowel for evaluation for associated findings.

Antenatal prognostic factor of fetal echogenic bowel.

OBJECTIVE: The aim of this study was to identify antenatal prognostic factors of neonatal outcomes in cases of fetal echogenic bowel (FEB). STUDY DESIGN: A retrospective study in three tertiary referral centers including fetal echogenic bowel over a 10-year period (from January 2003 to December 2013). The echogenicity of the fetal bowel was graded from 1 to 3, according to Slotnick's definition. Associated echographic findings such as bowel dilations, gallbladder abnormalities, calcifications, extra-abdominal abnormalities, intrauterine growth restriction (IUGR) and a decrease in amniotic fluid volume, if present were also recorded. This was followed by the FEB's sonographic evolution. The sonographic evolution was considered favorable if it was stable or decreasing and unfavorable if the echogenicity of the bowel increased or if additional sonographic findings appeared. Neonates had a pediatric examination in the delivery room and upon discharge from the maternity hospital. An outcome was considered good in the case of on-term delivery of a newborn with normal clinical examination and meconium elimination. RESULTS: Complete pregnancy outcome data were available for 409 pregnancies. 338 newborns had uneventful outcomes (82.6%). Antenatal exploration diagnosed 4 cases of aneuploidy (1 case of trisomy 13, 1 case of trisomy 18 and 2 cases of triploidies), 16 cases of congenital infections, 9 cases of cystic fibrosis and 11 cases of bowel abnormalities. After a multivariate analysis, we discovered the sonographic grade of the echogenic bowel was not a prognostic factor of neonatal outcome. The isolated fetal echogenic bowel had a 6.6-fold increase chance of uneventful outcomes (adjusted odd ratio (aOR) 6.6, 95% CI 3-14.4). Notably, favorable sonographic evolution (aOR 8.1, 95% CI 4.1-16) and late gestational age at the time of the diagnosis (aOR 1.17, 95% CI 1.07-1.27) are independent, good prognostic factors of good neonatal outcomes. None of the 180 fetuses with isolated fetal echogenic bowel and favorable sonographic evolution had adverse outcomes. Among these, 4 cases (0.98%) of aneuploïdy, 17 cases (4.2%) of congenital infections and 9 cases (2.2%) of cystic fibroses were also diagnosed. No cases of Down syndrome (DS) were reported. CONCLUSION: Our study shows that the grade should not be considered a prognostic factor of neonatal outcomes. Our data suggests the need to reevaluate the concept of systematic amniocentesis. Sonographic evolution of fetal bowel is an independent, strong prognostic factor for good neonatal outcomes. It also better defines the FEB prognostic.

Hyperechogenic Bowel: Etiologies, Management, and Outcome according to Gestational Age at Diagnosis in 279 Consecutive Cases in a Single Center.

Introduction The aim of the study was to investigate perinatal outcome of fetuses with hyperechogenic bowel (HB) in relation to gestational age at diagnosis. Materials and Methods This is a retrospective observational study of fetal HB cases from 2002 to 2012. Patients were divided into three groups according to trimester at diagnosis. For each group, data from fetal ultrasound examination, fetal medicine investigations, intrapartum cares, and neonatal outcome were obtained. Results A diagnosis of HB was made in 279 fetuses among them 17 (6%) during the first trimester, 186 (67%) during the second trimester, and 75 (27%) during the third trimester. A significant prevalence of maternal comorbidities was noticed in group 1 (12%: p = 0.02). A chromosomal defect was identified in 13% of the fetuses without difference among the three groups. HB was associated with prenatal infection in 11.5% (n = 32) of the cases, with an equal distribution between groups 2 and 3. Intrauterine growth retardation was noticed in 23% (n = 64) of the cases with a slightly high prevalence in groups 1 (35%). HB was the only ultrasonographic intestinal soft marker in 80% (n = 223) of the fetuses, two-third of them were detected during the first and the second trimesters (p = 0.001). However, HB was associated with bowel dilation in 33% of the cases diagnosed during the third trimester (p = 001). Ultrasonographic extraintestinal anomalies were identified in 30% of the fetuses with a higher prevalence in group 1 (59%). HB resolved spontaneously in 55 (19.7%) cases-without difference among the three groups. In group 1 we recorded a significant prevalence of intrauterine demise (23.5%, p = 0.004). Two hundred twenty-seven (81.3%) pregnancies resulted in live-born neonates; among them gastrointestinal anomalies were noticed in 12.5% with a significant prevalence in group 3 (36%) compared with 6 and 5.4% in groups 1 and 2, respectively (p = 0.001). Extraintestinal anomalies were confirmed in 27% of the cases, whereas postnatal mortality rate was of 7% without differences between the three groups. Conclusion Detection of HB during the first trimester is associated with an increased risk for maternal comorbidities, intrauterine growth retardation, and adverse pregnancy outcome. Moreover, if HB is detected during the second trimester, it is associated with a favorable prognosis. Otherwise, HB detected during the third trimester is associated with a significant risk of gastrointestinal anomaly.

Controversial ultrasound findings in mid trimester pregnancy. Evidence based approach.

Mid trimester fetal anatomy scan is a fundamental part of routine antenatal care. Some U/S soft markers or controversial U/S signs are seen during the scan and create some confusion regarding their relation to fetal chromosomal abnormalities. Example of these signs: echogenic focus in the heart, echogenic bowel, renal pyelectasis, ventriculomegaly, polydactely, club foot, choroid plexus cyst, single umbilical artery. We are presenting an evidence based approach from the literature for management of these controversial U/S signs.

The effect of associated structural malformations in the prediction of chromosomal abnormality risk of fetuses with echogenic bowel.

OBJECTIVE: Our aim is to determine the frequency of chromosomal abnormalities and also to identify the role of structural malformations on the chromosomal abnormality risk among fetuses with echogenic bowel. METHODS: Over a 6-year period fetuses with echogenic bowel (FEB) were retrospectively evaluated. The pregnancies with intra-amniotic bleeding history, congenital infection, cystic fibrosis and intrauterine growth retardation were excluded from the study. Types and frequency of sonographically detected fetal malformations were identified. Chromosomal abnormality incidences according to association with soft markers and major fetal abnormalities were compared. RESULTS: Of the 281 fetuses with echogenic bowel, 105 (37.37%) were isolated, 78 (27.76%) were associated with soft markers and 98 (34.87%) were associated with major abnormalities. There were 30 (10.7%) fetuses with abnormal karyotypes. The chromosomal abnormality rate of the groups of isolated FEB, FEB + soft markers and FEB + major abnormalities were 6.7%, 7.7% and 17.4%, respectively. CONCLUSIONS: Chromosomal abnormality risk in fetuses with echogenic bowel should be evaluated according to additional sonographic findings. Association of structural malformations increases the chromosomal abnormality risk, although this risk is not significant with the presence of soft markers alone.

[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.

Meconium ileus in a Lebanese family secondary to mutations in the GUCY2C gene.

Meconium ileus is most often associated with mutations in the CFTR gene; however recently, mutations in GUCY2C in the Bedouin population have also been shown to result in this phenotype. This gene codes for an intestinal transmembrane receptor that generates cyclic GMP, which activates cystic fibrosis transmembrane receptor. We report a third family that supports the association of variants in the GUCY2C gene with meconium ileus (MI). A Lebanese kindred was studied and individuals affected with MI had either homozygous or compound heterozygous variants in GUCY2C. The earliest manifestation of the affected individuals was the presence of second trimester fetal echogenic bowel, thus resulting in the expansion of the differential diagnosis of this ultrasound finding.

Fetal echogenic bowel in association with Zellweger syndrome.

Increased echogenicity of fetal bowel in the second trimester obstetrical ultrasound has been described in association with several pathologic conditions, such as growth restriction, aneuploidy, cystic fibrosis, congenital infections, and gastrointestinal malformations. Zellweger syndrome (ZS) is the prototype of peroxisomal disorders characterized by craniofacial dysmorphism and severe neurologic abnormalities. We report two cases with fetal echogenic bowel (FEB) but no associated anomalies and normal fetal growth. After birth, clinical and laboratory findings led to diagnosis of ZS. Association of FEB with neurometabolic disorders is limited to a few case reports in the medical literature. To the best of our knowledge, this is the first report of ZS associated with FEB.

The Welsh study of mothers and babies: protocol for a population-based cohort study to investigate the clinical significance of defined ultrasound findings of uncertain significance.

BACKGROUND: Improvement in ultrasound imaging has led to the identification of subtle non-structural markers during the 18 - 20 week fetal anomaly scan, such as echogenic bowel, mild cerebral ventriculomegaly, renal pelvicalyceal dilatation, and nuchal thickening. These markers are estimated to occur in between 0.6% and 4.3% of pregnancies. Their clinical significance, for pregnancy outcomes or childhood morbidity, is largely unknown. The aim of this study is to estimate the prevalence of seven markers in the general obstetric population and establish a cohort of children for longer terms follow-up to assess the clinical significance of these markers. METHODS/DESIGN: All women receiving antenatal care within six of seven Welsh Health Boards who had an 18 to 20 week ultrasound scan in Welsh NHS Trusts between July 2008 and March 2011 were eligible for inclusion. Data were collected on seven markers (echogenic bowel, cerebral ventriculomegaly, renal pelvicalyceal dilatation, nuchal thickening, cardiac echogenic foci, choroid plexus cysts, and short femur) at the time of 18 - 20 week fetal anomaly scan. Ultrasound records were linked to routinely collected data on pregnancy outcomes (work completed during 2012 and 2013). Images were stored and reviewed by an expert panel.The prevalence of each marker (reported and validated) will be estimated. A projected sample size of 23,000 will allow the prevalence of each marker to be estimated with the following precision: a marker with 0.50% prevalence to within 0.10%; a marker with 1.00% prevalence to within 0.13%; and a marker with 4.50% prevalence to within 0.27%. The relative risk of major congenital abnormalities, stillbirths, pre-term birth and small for gestational age, given the presence of a validated marker, will be reported. DISCUSSION: This is a large, prospective study designed to estimate the prevalence of markers in a population-based cohort of pregnant women and to investigate associations with adverse pregnancy outcomes. The study will also establish a cohort of children that can be followed-up to explore associations between specific markers and longer-term health and social outcomes.

[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.