Hyperechogenic Bowel Research Articles

Characterization of the Prenatal Ultrasound Phenotype Associated With 7q11.23 Microduplication Syndrome and Williams-Beuren Syndrome.

This study aimed to characterize the intrauterine phenotype of fetuses with 7q11.23 microduplication syndrome and Williams-Beuren syndrome (WBS) to provide insight into prenatal genotype and phenotype correlations in the 7q11.23 region. Seven fetuses with 7q11.23 microduplication syndrome and sixteen with WBS were diagnosed via array comparative genomic hybridization (array CGH) or copy number variation sequencing (CNV-seq) at our center. Clinical data were also systematically collected and analyzed, including intrauterine phenotype, pregnancy outcome, and inheritance. In our cases, the most common prenatal ultrasound feature of 7q11.23 microduplication syndrome was cardiovascular defects; less frequent features included choroid plexus cysts, anencephaly, bilateral pyelectasis, and cervical lymphatic hygroma. On the other hand, WBS was mainly associated with cardiovascular defects and intrauterine growth retardation. Other clinical phenotypes included hypoechoic frontal horn of the right lateral ventricle, crossed fused renal ectopia, hyperechogenic bowel, hyperechogenic right thoracic cavity, and hyperechogenic hepatic parenchyma/intrahepatic duct wall. Our study describes a series of new ultrasound features identified prenatally in fetuses with 7q11.23 microduplications and microdeletions with the intent of expanding the prenatal phenotype associated with copy number variants in this chromosomal region. Additional studies are needed to clearly delineate specific prenatal features associated with these rare genetic entities.

Fetal echogenic bowel may be related to intestinal microbiota: A prospective cohort study.

The purpose of the current study was to determine the difference in intestinal microbiota after delivery between healthy fetuses and fetuses with hyperechogenic bowel during the second trimester and the relationship between fetal echogenic bowel and microbiota. Fourteen healthy fetuses (control group), 13 fetuses with echogenic bowel (EB group), and seven fetuses with echogenic bowel and other abnormalities (C-EB group) were selected. The first meconium after delivery was collected for 16S rRNA sequencing. A total of 1 222 131 high-quality sequences were generated after sequencing optimization of all samples. Each sample contained an average of 35 945 high-quality sequences and 2036 operational taxonomic units (OTUs). There was no significant difference in the Shannon, Simpson index among the three groups. At the genus level, the abundance of Escherichia coli/Shigella in the EB and C-EB groups was significantly lower than the control group, while the abundance of Staphylococcus, Methylobactrium, and Curvibacter in the EB group was significantly higher than the other groups. There was a difference in abundance of Gammaproteobacteria, Fusobacteria, Enterobacteriaceae, and E. coli in the EB and C-EB groups. The formation of echogenic bowel may be related to the microbiota.

Prenatal Features of MIRAGE Syndrome-Case Report and Review of the Literature.

MIRAGE syndrome is a recently described congenital condition characterized genetically by heterozygous gain-of-function missense mutations in the growth repressor sterile alpha domain containing 9 (SAMD9) located on the arm of chromosome 7 (7q21.2). The syndrome is rare and is usually diagnosed in newborns and children with myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy, hence the acronym MIRAGE. The aims of this paper are (1) to present fetal ultrasound features in a case where MIRAGE syndrome was diagnosed prenatally and (2) to review the existing literature records on prenatal manifestations of MIRAGE syndrome. In our case, the fetus had severe early fetal growth restriction (FGR) with normal Doppler studies, atypical genitalia, oligohydramnios, and hyperechogenic bowel at the routine mid-gestation anomaly scan. Amniocentesis excluded infections and numeric or structural chromosomal abnormalities while whole exome sequencing (WES) of the fetal genetic material identified the specific mutation. Targeted testing in parents was negative, suggesting the "de novo" mutation in the fetus. We could not identify other specific case reports in the literature on the prenatal diagnosis of MIRAGE syndrome. In cases reported in the literature where the diagnosis of MIRAGE syndrome was achieved postnatally, there are mentions related to the marked FGR on prenatal ultrasound. Severe early-onset FGR with no other apparent cause seems to be a central prenatal feature in these babies, and WES should be offered, especially if there are other structural abnormalities. Prenatal diagnosis of MIRAGE syndrome is possible, allowing for reproductive choices, improved counseling of parents, and better preparation of neonatal care.

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

ObjectiveTo 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. MethodsThis 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. ResultsThe 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. ConclusionsDuodenal 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.

Superior mesenteric artery Doppler parameters in the evaluation of fetal hyperechogenic bowel.

The aim of this study was to evaluate the efficacy and clinical effects of superior mesenteric artery (SMA) Doppler indices such as the systole diastole ratio (S/D), Pulsatility (PI), and resistance index (RI) in the diagnosis of hyperechogenic bowel. A total of 133 pregnant women, including 66 with hyperechogenic bowel and 67 controls, were enrolled in the study. All participants were evaluated in the second trimester by an experienced obstetrician. Doppler measurements were performed, including superior mesenteric artery peak systolic velocity, S/D ratio, PI, and RI. Statistical analysis was conducted to compare the Doppler parameters between the hyperechogenic bowel and control groups. No significant differences were found between the hyperechogenic bowel and control groups in terms of age, body mass index, gestational week, and fetal measurements. While SMA peak systolic velocity (PSV) showed no significant difference between the groups (p = 0.074), the S/D ratio (4.01 ± 0.59 vs. 3.27 ± 0.57, p = 0.0001), PI (1.51 ± 0.15 vs. 1.29 ± 0.06, p = 0.0001), RI (0.76 ± 0.05 vs. 0.67 ± 0.04, p = 0.0001) were significantly higher in the hyperechogenic bowel group compared to the control group. Screening tests based on Doppler parameters also demonstrated significant differences. The S/D ratio, PI, and RI exhibited good to excellent diagnostic accuracy, as indicated by the area under the curve values. Pregnant women with a high RI value of 0.72 were 101 times more likely to be diagnosed with HB. The odds ratio (OR) for diagnosing HB is 101.66 (CI 95%, 31.04-332.97). Doppler indices, specifically the S/D ratio, PI, and RI, showed strong predictive ability and diagnostic accuracy in identifying cases of hyperechogenic bowel. These findings suggest that Doppler ultrasound can serve as a valuable tool for evaluating hyperechogenic bowel and may provide important clinical implications. Further diagnostic tests are warranted to determine the underlying cause of hyperechogenic bowel in individual cases.

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.

Echogenic Bowel as an Indicator of Necrotizing Enterocolitis in a Term Newborn

A 3.5-kilogram infant was born at 40 weeks gestation with an uncomplicated delivery. Prenatal ultrasounds showed echogenic bowel and a ventricular septal defect (VSD), of no clinical significance. Abdominal radiographs showed pneumatosis at 21, 36, and 48 hours of life (HOL). She was treated for necrotizing enterocolitis (NEC) with intravenous antibiotics and parenteral nutrition for 7 days, before working up on feeds and discharging home with breast milk. The only prenatal finding in this case was hyperechogenic bowel, which is a soft marker and often disregarded in the absence of other signs. Chronic intrauterine gut ischemia can cause hyperechogenicity of the bowel. That same intrauterine gut ischemia may have been responsible for NEC in our patient. If a patient has persistent echogenic bowel on prenatal imaging, a critical need exists to make sure NEC is not present.

A systematic review of maternal TORCH serology as a screen for suspected fetal infection.

The acronym 'TORCH' refers to well-recognised causes of perinatal infections: toxoplasmosis, rubella, cytomegalovirus (CMV) and herpes simplex virus (HSV). A TORCH serology panel is often used to test for maternal primary infection following detection of ultrasound abnormalities in pregnancy. This review aims to estimate the diagnostic yield of maternal TORCH serology in pregnancy following fetal ultrasound abnormalities. Primary studies published since 2000 that assessed maternal TORCH serology for suspected fetal infection and included information on indications for testing, definition of positive TORCH serology results, and perinatal outcomes were included. Eight studies with a total of 2538 pregnancies were included. The main indications for testing were polyhydramnios, fetal growth restriction and hyperechogenic bowel. There were 26 confirmed cases of congenital CMV, of which 15 had multiple ultrasound abnormalities. There were no cases of congenital toxoplasmosis, rubella or HSV confirmed in any of the eight studies. The clinical utility of TORCH serology for non-specific ultrasound abnormalities such as isolated fetal growth restriction or isolated polyhydramnios is low. It is time to retire the TORCH acronym and the reflex ordering of 'TORCH' panels, as their continued use obscures, rather than illuminates, appropriate investigation for fetal ultrasound abnormalities.

Пренатальная диагностика персистирующей правой пупочной вены

Objective. To determine the incidence of persistent right umbilical vein (PRUV), as well as to study the prognostic value of as a marker of fetal developmental anomalies and neonatal outcomes. Patients and methods. 12,945 pregnant women whose gestation period was 18–41 weeks were examined. Ultrasound scanning was performed using a 3–5 MHz probe. A detailed fetal anatomy assessment was carried out, PRUV was diagnosed on the transverse scan of the fetal abdominal cavity. Results. 23 fetuses with PRUV were revealed: in 22 fetuses – an intrahepatic PRUV as a single anomaly was found, in 1 fetus – an extrahepatic PRUV (frequency 1:562). In all cases of intrahepatic PRUV, associated anomalies of fetal development were not revealed, pregnancy proceeded without complications with a favorable postnatal outcome. In one case of extrahepatic PRUV, cardiomegaly and hyper-echogenic bowel were diagnosed. Conclusion. The presence of PRUV in fetus is a marker of developmental anomalies and it warns a doctor about possible complications. Pregnancy, complicated by PRUV, requires a detailed dynamic observation, as in 30% of cases, there is a fetal growth retardation. The results of our study indicate that PRUV, when it is the only anomaly, has a favorable outcome, but based on the data of other authors, the fetus should be more carefully examined for other congenital malformations. Key words: persistent right umbilical vein, prenatal diagnosis, ultrasound diagnosis

Clinical Significance of Hyperechogenic Bowel in Second-Trimester Ultrasound Scan

Background: This study aimed to report the incidence of bowel obstruction, chromosomal abnormality, congenital infection, fetal growth restriction (FGR), and otheranomalies in fetuses with hyperechogenic bowel (HEB) diagnosed during the second-trimester fetal ultrasound scan.Methods: In total, 350 fetuses with a diagnosis of HEB in our maternal-fetal medicine referral center were evaluated with a detailed fetal ultrasound examination by an experienced perinatologist. If no associated anomalies were observed, women were counseled about the risk of potential fetal disorders and offered appropriate testing, including detailed fetal sonography, karyotype, maternal cytomegalovirus (CMV), and toxoplasmosis serology,as well as serial fetal biometry and bowel diameter follow up.Results: Altogether there were 18(5.1%) fetuses with associated problems, including major anomalies, chromosomal abnormalities, and CMV infection. Moreover, 32(9.1%) fetuses developed FGR during follow-up.Conclusion: An overall rate of adverse conditions of 14.2% with prenatally detected HEB serves to inform obstetricians and emphasizes the importance of careful screening fetal ultrasound studies and timely referral for an additional assessment about associated findings.It should be noted that isolated HEB has good outcomes.

Ultrasound features of fetal toxoplasmosis: A contemporary multicenter survey in 88 fetuses.

To describe the lesions detected by prenatal ultrasound examination in congenital toxoplasmosis (CT). We retrospectively analyzed all cases of fetal infection with Toxoplasma gondii with ultrasound anomalies described by fetal medicine experts in 2009 to 2019 in 30 French centers. Eighty-eight cases of CT were included. Forty-five (51.1%) had one or more cerebral signs only, 35 (39.8%) had cerebral plus extracerebral signs and 8 (9.1%) had extracerebral signs only. The main cerebral signs were intracranial hyperechogenic nodular foci (n = 60) of which 20 were isolated, ventriculomegalies (n = 44) which generally increased during follow-up, and periventricular abscesses (n = 12). The main extracerebral signs were hepatomegaly and/or splenomegaly (n = 14), small for gestational age (n = 14), ascites (n = 14, including 2 with hydrops), and hyperechogenic bowel (n = 11). Maternal infection occurred mostly in the first or second trimester (81 cases), periconceptionally in one and in the third trimester in six cases. The first ultrasound signs were detected after a median of 7 weeks (range: 1.4; 24.0) following maternal toxoplasmosis seroconversion. While no sign was specific of CT, there were typical associations of cerebral signs with or without extracerebral signs. Detailed ultrasound examination could improve prognostic evaluation, as well as diagnosis of CT in settings lacking serological screening.

Pathophysiology of Hyperechogenic Bowel in Congenitally Human Cytomegalovirus Infected Fetuses.

Hyperechogenic bowel (HB) is a nonspecific ultrasound finding that can be associated with human cytomegalovirus (CMV) congenital infection. In this study, we investigated HB pathophysiology in CMV-infected fetuses. We examined small and large intestine as well as pancreas in 8 fetuses at 22 weeks of gestation with congenital CMV infection. Ultrasound findings showed 4 fetuses with HB and 4 without. As negative group, 4 fetuses without CMV infection and without HB were studied. Immunohistochemistry for CMV, lymphocytic infiltrate, B-cell leukemia/lymphoma-2 (bcl-2), CD-117, cystic fibrosis transmembrane regulator (CFTR) were performed. HB fetuses showed multiple and sequential CMV-positive ganglion cells of Auerbach’s myenteric plexus. In the ganglia, bcl-2 was weakly expressed representing a reduced neuronal functionality. CD-117 revealed a regular distribution of Cajal cells, the pacemakers of intestinal contractility. Pancreas showed normal CFTR staining, indicating a preserved exocrine secretion, thus unlikely a contributory factor in HB. In CMV-infected fetuses without HB, CMV-positive cells were scatteredly found in ganglion cells and bcl-2 was strongly expressed. Intestinal CD-117 and pancreatic CFTR expression were similar to fetuses with HB. In conclusion, fetal CMV infection of the bowel may lead to peristalsis impairment (paralytic ileus) due to intestinal plexus involvement, which at ultrasound appeared as HB.

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.

Prenatal ultrasonographic manifestations of partial trisomy 12q(12q24.2→qter) and partial monosomy 2q (2q37.3→qter)

Introduction. Partial trisomy of chromosome 12 long arm is rare condition with significant clinical impact and is usually diagnosed postnatally. Case report. We present prenatal sonographic findings and molecular cytogenetic characterization of partial trisomy 12q and partial monosomy 2q in two consecutive pregnancies of a healthy non-consanguineous couple. A 35-year-old pregnant woman G3P1A1 was referred to genetic counseling due to sonographic anomalies detected in the fetus. First trimester ultrasound examination revealed hyperechogenic focus in the left cardiac ventricle, single umbilical artery, hyperechogenic bowel and unilateral clubfoot with knee joint ankylosis. Previous pregnancy of the couple was terminated at 26th gestation weeks due to multiple fetal anomalies: bilateral ventriculomegaly, corpus callosum hypoplasia, single umbilical artery and clubfoot. In G3P1A1, amniocentesis was performed and cytogenetic analyses revealed a derivative chromosome 2. Subsequent cytogenetic analyses of parental lymphocytes showed that paternal karyotype was normal, while maternal karyotype showed a der(2). Metaphase fluorescence in situ hybridization (FISH) studies demonstrated partial trisomy 12q24.2?12qter and partial monosomy 2q37.3?2qter in the fetus, resulting from an unbalanced segregation of a maternal balanced translocation t(2;12)(q37.3;q24.2). To date, this is the first such prenatally detected case. Literature search revealed three more cases of prenatally detected partial trisomy 12q and anomalies described were consistent with ones detected in present case. Our findings contribute to further clinical delineation of partial trisomy 12q. Conclusion. Prenatal detection of single umbilical artery, clubfoot, arthogryposis and ventriculomegaly should alert suspicion to chromosome 12q aberrations.

P18.10: Imaging findings of congenital toxoplasmosis, cytomegalovirus and Zika virus infections

Toxoplasmosis (TOXO), cytomegalovirus (CMV), and Zika vírus (ZIKV) are among the common infectious agents that may infect the fetuses vertically. Clinical presentations of these congenital infections overlap significantly, and it is usually impossible to determine the causative agent clinically. The objective was the comparison of imaging findings in fetuses who underwent intrauterine infection by toxoplasmosis, CMV, and ZIKV. Confirmed cases of TOXO (2), CMV (3), and ZIKV (7) infections were included in the study over 10 months prospectively. Prenatal ultrasound (US), fetal magnetic resonance imaging (MRI), and postnatal neuroimaging (CT or MRI) were performed on all of the included cases and interpreted by an expert radiologist. The main neuroimaging findings in congenital toxoplasmosis were randomly distributed brain calcifications and ventricular dilatation on US, as well as white matter signal change on fetal brain MRI. The main neuroimaging findings of congenital CMV infection included microcephaly, ventriculomegaly and periventricular calcifications on US, as well as pachygyria revealed by fetal MRI. The case of congenital ZIKV infection showed microcephaly, ventriculomegaly, and periventricular calcifications on US, as well as brain atrophy and brain surface smoothness on fetal MRI. Increased placental thickness, hyperechogenic bowel, ascites and oligohydramnios were found CMV (1) and toxoplasmosis (1). IUGR was found in a CMV (2) and toxoplasmosis (1). Arthrogryposis was found in one case of ZIKV. 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.

EP17.18: The detection of anal atresia in postpartum period in a fetus which diagnosed hyperechogenic bowel in antepartum period

EP17.18: The detection of anal atresia in postpartum period in a fetus which diagnosed hyperechogenic bowel in antepartum period

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.

Multicentre study “Prenatal diagnosis of Down syndrome in Russia 2005–2015”. II. Ultrasound markers

Objective: to study the effectiveness of the use of ultrasound markers for Down syndrome (DS) in the fetus during ultrasound examinations at 11–14 and 18–21 weeks of gestation based on the results of multicentre analysis in the regions of Russia in 2005–2015 years. Materials. The analysis was based on data from a questionnaire on prenatal diagnosis of DS in 30 regions and cities of Russia in 2015. The data from the questionnaire survey of 12 regions in 2005 and 23 regions in 2010 for analyse the dynamic of prenatal diagnosis of DS in our country was obtained. The questionnaire included the questions about the number of births and pregnant women registered in the region; the total number of cases of DS registered in prenatal and postnatal periods; structures of diagnosed cases of DS depending on the detection period; indications for prenatal karyotype; the number of fetuses with DS and the increase of nuchal translucency in 11–14 weeks of gestation; ultrasound markers of DS in the II trimester of gestation and perinatal outcome in cases of prenatal diagnosis of DS. Results. In the course of the multicentre analysis it was established that the accuracy of identification of DS in the prenatal period in our country was 30,9% in 2005, 38,4% in 2010 and significantly increased to 59,7% in 2015. In 2005, only 17,2% of cases of DS were detected in 11–14 weeks of gestation, in 2010 — 38,2% and increased to 72,1 % (7,6–100%) in 2015. In 24 from 30 regions the proportion of diagnosed cases of trisomy 21 at 11–14 weeks of gestation was 50% or more, and in 11 regions — 90–100%. Increase of nuchal translucency thickness was detected on average in 76,3 % fetuses with DS with a range from 28,1 to 100 %. The most prenatal ultrasound markers in fetuses with DS in the second-trimester were congenital malformations and hypoplasia / absence of nasal bones — 64,9 and 65,5 %, respectively. Further, as the frequency of detection decreased: prenasal thickness (27,6 %), echogenic intracardiac focus (27,1%), pyelectasis (22%), nuchal fold (19,7%), short humerus/femur (17,5%), hyperechogenic bowel (14,6%), ventriculomegaly (11,2%), choroid plexus cysts (7,3%). Conclusion. Ultrasound examination is powerful method for identification the fetuses with DS. Therefore, it is necessary to continue the development of new ultrasound markers of DS for improving its prenatal diagnosis.