Fetal Hyperechogenic Bowel Research Articles

Echogenic bowel on the second-trimester ultrasound as an indicator of jejunal atresia: A case report

Introduction and importance: Fetal echogenic bowel (FEB) is a finding on prenatal ultrasound characterized by increased echogenicity of the fetal intestine. In this study we present a case of FEB with severe bowel dilatation identified on second-trimester ultrasound that was subsequently diagnosed with jejunal atresia postnatally. Case presentation: A 28-year-old primigravida woman was referred to our perinatology clinic at 18w/3d gestational age for fetal anomaly scan. The anomaly scan examination identified grade 3 fetal bowel hyperechogenicity. The results of fetal echocardiogram and maternal serum screening for TORCH infections were normal and the NIPT analysis showed low risk results for chromosomal aneuploidies. Clinical discussion: In our case the fetal bowel diameter measured 21 mm at 29 w/6d gestational age, which significantly exceeded the established clinical cut-off value for fetal bowel dilatation. This timing is crucial because if a specific problem is detected in the ultrasound that indicates an abortion of the fetus it can only be performed legally under 19th week of pregnancy, otherwise, termination of pregnancy is considered illegal according to the policies of this country. Conclusion: Nowadays ultrasonography as a non-invasive tool facilitates the early detection of many prenatal problems. In this case, with the early detection of FEB and further investigations, we were able to safely manage the pregnancy until the 39th week of pregnancy and plan the delivery in a tertiary referral center to ensure the availability of intensive care for the baby at birth.

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.

Fetal Bowel Dilatation Associated With LCHAD Deficiency: A New Sonographic Finding

A long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency constitutes a very rare autosomal recessive disease, affecting long fatty acids’ metabolism. In the prenatal period, it is difficult to suspect this diagnosis in the absence of family history, as there are no specific sonographic signs of this disease. A 32-year-old pregnant woman was receiving follow-up care, as she was a carrier for Duchenne muscular dystrophy (DMD). The fetus was female, and the pregnancy progressed normally until 29th week of gestation. At that time, the fetal bowel had noted dilatation with mild hyperechogenicity. Fetal surveillance was conducted with sequential sonograms. Labor was induced at 36 weeks, due to pre-eclampsia. The newborn presented with poor weight gain and hypoglycemic episodes. Neonatal screening revealed the diagnosis of an LCHAD deficiency. Prenatal diagnosis of LCHAD is usually performed by genetic testing when there is a family history. However, only a few sonographic signs have been described in association with this disease, such as fetal bowel hyperechogenicity or cardiomyopathy. This is the first case study to report a prenatal sonographic finding of bowel dilatation in a fetus with LCHAD deficiency, and one of the few to report fetal bowel hyperechogenicity.

79 A partial hydatidiform mole case with rare karyotype

Introduction: A hydatiform mole is a gestational trophoblastic disease, which originates from the placenta and can metastasize. In complete moles, the karyotype is 46,XX 90% of the time and 46,XY 10% of the time. On the other hand, in partial moles, the karyotype is 90% of the time triploid and either 69,XXX or 69,XXY. In developed countries, the incidence of complete moles is approximately 1–3 per 1000 pregnancies and those of the partial moles about 3 per 1000 pregnancies. Methods: Our case was referred us at 17. week of pregnancy because of her high AFP value at routine screening. It was also hyperechogenic fetal bowel, pericardial effusion and placental thickness observed in ultrasonographic examination. At the beginning we put forward molar pregnancy or placental dysplasia in this case and made genetic analysis with amniocentesis. We also investigated TORCH screening but found no specific finding. During these investigation maternal hypertension and proteinuria, growth restriction at fetus was occurred. With these findings we recommended the family to termination and they accepted. Results: After termination we sent fetal material to pathological examination. The result from pathology indicated that the fetal material included partial molar pregnancy with 46 chromosomes. That means it was a rare partial molar pregnancy case with 46 chromosomes. Conclusions: Patial mole is seen with a fetus but complete mole is characterised with molar plasental hypertrphy without fetus. In a partial mole, there typically is the finding of a fetus which may be viable, the presence of amniotic fluid, and the placenta appears to have enlarged, cystic spaces. For partial moles, fertilization takes place between the oocyte and 2 sperm. The zygote is thus triploid. In rare cases the partial hydatidiform mole have also been reported with other karyotypes.

Role of Second-Trimester Soft Markers for Screening of Down Syndrome

Down syndrome is clinically characterized by mental retardation, birth defects, and specific physical features that are identifiable at birth. Mental retardation ranges from mild to severe with most cases showing a moderate level, to evaluate the effectiveness the second-trimester soft marker sonography combined with biochemical quadriple test screening for prenatal diagnosis of triosmy 21 in patient with risk factor for down syndrome, this is a prospective cohort study that was conducted at Department of obstetrics & Gynecology ,at Benha university hospital, and carried on 80 patients ,Ultrasound was done by voluson 2d and 3d searching for a number of soft markers, that there is high significant correlation between down syndrome and Hyper echogenic fetal bowel, Nasal bone hypoplasia, Mild ventriculomegally and Enlarged cysterna magna. Also there is significant correlation between Down syndrome and Choroid plexus cyst, Intra-cardiac echogenic foci, Single umbilical artery and Mild hydronephrosis, Second‐trimester soft markers, especially a thickened nuchal fold, remain important observations in the detection of Down syndrome by sonography among fetuses who have had first‐trimester sonographic screening for aneuploidy.

OC27.07: Evaluation of an objective antenatal measurement of fetal bowel echogenicity

To evaluate a new antenatal method of measurement of fetal bowel echogenicity. Multicentre study of fetus between 14 and 39 weeks of gestation. The population of fetuses was divided in 2 groups: hyperechogenic fetal bowel (34 cases) and control group with normal fetal bowel (966 fetuses). Both groups were analysed with the conventional method and our method. Conventional, subjective method (Slotnik et al., Lancet 1996): fetal bowel hyperechogenicity is described as echogenicity of fetal bowel superior to bone echogenicity. Our method uses the technical characteristics of ultrasound, by measuring the maximal density of pixels, which is available on the ultrasound machine. The density of the fetal liver is used as standard density to compare with fetal bowel density, as the fetal liver density is homogeneous during pregnancy. We compared the maximal density of fetal bowel with the maximal density of the liver (Delta max density: Dm). The average of delta max (Dm) was significantly increased in fetuses with hyperechogenic bowel compared to the control group (18 vs 42, p=3.10-8, Student's t-test). 83% of the fetuses identified as hyperechogenic fetal bowel with the conventional method had a Dm above 80th percentile. The AUC was 0.842. Our method may improve the detection of hyperechogenic bowel and especially lower the risk of false positives, thus reducing the need for inappropriate invasive procedures. Supporting information can be found in the online version of this abstract Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.

Hyperechogenic Fetal Bowel in the Era of Modern Ultrasound Equipment: It Is Not Only a Matter of Gain!

Hyperechogenic Fetal Bowel in the Era of Modern Ultrasound Equipment: It Is Not Only a Matter of Gain!

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.

Hyperéchogénicité intestinale fœtale : quel bilan proposer et quel pronostic ? À propos d’une série continue de 149 patientes

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. 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. 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. 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.

Fetal hyperechogenic bowel may indicate congenital cytomegalovirus disease responsive to immunoglobulin therapy

Objective: To determine whether fetal hyperechogenic bowel is associated with a poor outcome with or without immunoglobulin therapy. Methods: Sixteen pregnant women whose 17 fetuses had hyperechogenic bowel were followed by a protocol of offering additional serologic testing, amniocentesis, hyperimmunoglobulin (HIG), serial ultrasounds, and evaluation of their children. Results: Of 17 fetuses with hyperechogenic bowel, 13 showed hyperechogenic bowel as a single or first ultrasound sign compared to four who showed it concomitantly or after other ultrasound abnormalities appeared (P = 0.02). Of the 17 fetuses with hyperechogenic bowel, nine were treated with HIG. Eight of the nine were normal at birth and during a follow-up of 3–8 years. One treated fetus is deaf at 4 years of age. A significantly different result (P < 0.0004) occurred among seven untreated fetuses who were each severely affected at 2–7 years of age, and the remaining one died soon after preterm birth. Among seven of nine fetuses (77.8%) of treated mothers the fetal hyperechogenic bowel resolved after HIG administration. There were no significant differences between treated and untreated fetuses for gestational age at maternal infection, gestational age at birth, and birth weight. Conclusion: Hyperechogenic bowel may be a marker of congenital cytomegalovirus (CMV) disease, which may be prevented by HIG.

A large deletion causes apparent homozygosity for the D1152H mutation in the cystic fibrosis transmembrane regulator (CFTR) gene

We report the case of a patient with an apparent homozygosity for the D1152H mutation located in exon 18 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The parents had no personal history of cystic fibrosis (CF) and referred to our laboratory after the diagnosis of fetal bowel hyperechogenicity. The proband presented with meconium ileus and normal sweat chloride test. Sequencing of the CFTR exon 18 together with quantitative genomic assays, such as real-time PCR and the multiplex ligation probe amplification (MLPA) techniques, were performed and revealed that the father was heterozygous for the D1152H mutation and the mother carried a large deletion of the CFTR gene encompassing the genomic sequence including the same mutation. The child inherited D1152H from his father and the large deletion of the CFTR gene from his mother. We suggest that D1152H likely acts as a mild mutation with a dominant effect on the severe deletion of exon 18, considering that after 3years of clinical examinations the child shows no classical signs and symptoms of CF. Not testing for large deletions in subjects with apparent homozygosity for a mutated CFTR allele could lead to the misidentification of CFTR mutation carrier status.

Analysis of etiological factors and pregnancy outcome in cases of fetal hyperechogenic bowel

Objective. The prevalence of fetal hyperechogenic bowel is 0.2% to 1.8%. The aim of this study was to examine etiological factors responsible for pathogenesis of fetal hyperechogenic bowel, to investigate their prognostic importance for the progression and outcome of pregnancy and to assess optimal diagnostic strategy of this condition. Methods. The information on etiological factors and pregnancy outcome were collected through telephone interviews with 40 pregnant women with fetal hyperechogenic bowel found on routine ultrasound examination. The total of 12 (30%) women agreed to provide the required information. Their answers were based on medical documentation, provided during their respective pregnancies. Data were analyzed using descriptive statistics. Results. The most common etiological factor in cases of fetal hyperechogenic bowel is infection with cytomegalovirus during the first two trimesters of the pregnancy, while the presence of the chromosome anomalies and cystic fibrosis are responsible for the occurrence of this clinical entity only in a minority of cases. In one of the analyzed cases (8.3%) Down's syndrome was confirmed in fetus, in four cases (33.3%) cytomegalovirus infection was found, while mutations in the CFTR gene were not found in fetus' parents in any of analyzed cases. Outcome of pregnancy in all cases in which the ultrasound examination showed only the presence of fetal hyperechogenic bowel was live newborn, while in cases with other ultrasound findings the contribution of live newborn was 55 percent. Conclusion. Ultrasound of fetal echogenic bowel during pregnancy is a serious clinical condition that justifies the use of invasive diagnostic procedures and aggressive differential diagnostic search.

Diagnóstico prenatal de una trisomia parcial 5p asociada a hiperecogeneicidad intestinal

We report the case of a 30-year-old woman who underwent amniocentesis at 20 weeks of gestation since the fetus showed equinovarus feet, hyperechogenic fetal bowel and choroid plexus cyst. Cytogenetic study identified de novo partial trisomy of the short arm of chromosome 5. We analyze the autopsy findings and “5p syndrome” as well as the association between intestinal hyperechogenicity and the development of abnormal chromosomes.

OP33.02: Fetal and neonatal outcome of isolated fetal hyperechogenic bowel

OP33.02: Fetal and neonatal outcome of isolated fetal hyperechogenic bowel

Factors influencing perinatal outcome of fetal hyperechogenic bowel

AimFetal hyperechogenic bowel is an indicator of a number of possible underlying conditions and its identification presents counselling dilemma. Our aim was to identify factors that influence the perinatal outcome...

Notable contribution of large CFTR gene rearrangements to the diagnosis of cystic fibrosis in fetuses with bowel anomalies

Grade III fetal bowel hyperechogenicity and/or loop dilatation observed at the second trimester of pregnancy can be due to several disease conditions, including cystic fibrosis (CF). Screening for frequent CF mutations is performed as a first step and, in certain situations, such as when a frequent CF mutation is found in the fetus, the increased risk of CF justifies an in-depth study of the second allele. To determine the contribution of large CFTR gene rearrangements in such cases, detected using a semiquantitative fluorescent multiplex PCR (QFM-PCR) assay, we collated data on 669 referrals related to suspicion of CF in fetuses from 1998 to 2009. Deletions were found in 5/70 cases in which QFM-PCR was applied, dele19, dele22_23, dele2_6b, dele14b_15 and dele6a_6b, of which the last three remain undescribed. In 3/5 cases, hyperechogenicity was associated with dilatation and/or gallbladder anomalies. Of the total cases of CF recognized in the subgroup of first-hand referrals, deletions represent 16.7% of CF alleles. Our study thus strengthens the need to consider large CFTR gene rearrangements in the diagnosis strategy of fetal bowel anomalies, in particular in the presence of multiple anomalies.

Amniotic fluid cytokine profile in association with fetal hyperechogenic bowel

Amniotic fluid cytokine profile in association with fetal hyperechogenic bowel

Antenatal Biochemical Expression of Cystinuria and Relation to Fetal Hyperechogenic Colon

Cystinuria is an inherited disorder characterized by impaired apical transport of cystine and dibasic amino acids (e.g., ornithine, lysine, and arginine) in the renal proximal tubule and the small intestine epithelia. The overall estimated prevalence is 1/7000 neonates (1). Because of impaired renal cystine reabsorption, cystine precipitates and forms calculi that can produce urinary tract obstruction and may lead to renal insufficiency. Cystinuria is responsible for ∼10% of all kidney stones observed in children; in ∼50% of patients, stones form in the first decade of life. Diagnosis allows introduction of therapy to reduce stone formation and risk of renal impairment. Prenatal biochemical expression of the disease has not been described. Fetal hyperechogenic small bowel (FHB), an infrequent ultrasound finding (0.1%–1.8% of pregnancies), is associated with severe fetal diseases such as cystic fibrosis and trisomy 21 (2). Even less common is fetal hyperechogenic colon (FHC) in which the hyperechogenicity is strictly limited to the colon. Recently, it has been suggested that FHC could be associated with cystinuria(3). We found biochemical prenatal evidence of cystinuria and confirmed the association of cystinuria with …

Amniotic fluid cytokine profile in association with fetal hyperechogenic bowel

Objectives Fetal hyperechogenic bowel (FEB) is associated with infection, chromosomal abnormalities and poor fetal outcome. FEB may result from an intrauterine fetal bowel cytokine-mediated inflammatory response. Since alterations in the levels of the cytokines interleukin (IL)-6, IL-8, IL-10, tumour necrosis factor (TNF)-α and interferon (IFN)-γ are associated with pregnancy complications and necrotizing enterocolitis, this study aimed: (i) to determine their involvement in the pathophysiology of FEB and (ii) to identify their role as amniotic fluid markers of this condition. Study design In this prospective case-control study, amniotic fluid was collected by transabdominal amniocentesis from pregnant women with fetuses presenting ( n = 10) – or not ( n = 30) – with FEB during routine 18–20 week ultrasound scans. Cell-free amniotic fluid samples were analysed for cytokine concentrations by fluid-phase multiplex immunoassay. Data were compared by Mann–Whitney U-tests and Pearson correlations. Results Amniotic fluid IL-8 levels were significantly higher in the FEB group. There was a positive correlation between IL-6 and each of IL-8 and INF-γ, as well as between IL-8 and IL-10, and TNF-α and INF-γ. Conclusions FEB likely ensues from a fetal inflammatory process involving IL-8 and, possibly, IL-6 and IL-10. This indicates the potential of immunomodulatory therapy in the management of FEB.

Hyperechogenic fetal bowel: counseling difficulties

The detection of echodense fetal bowel on ultrasound examination in the second trimester of pregnancy justifies invasive procedures such as amniocentesis to detect an underlying cause. We present a case in which initial tests identified only one mutation in the cystic fibrosis transmembrane regulator (CFTR)-gene of the fetus, the family history being negative for CF. Strongly reduced intestinal enzyme activities suggested intestinal obstruction and further increased the estimated risk for CF. After the 24th gestational week, a second mutation was found, confirming cystic fibrosis in this child. Problems in counseling in this particular case are discussed.