Detailed Sonographic Examination Research Articles

Topography of occult pneumothoraces: its importance for efficiency in diagnosis and avoiding sono-paralysis during POCUS.

SummaryTraumatic pneumothoraces remain a life-threatening problem that may be resolved quickly with timely diagnosis. Unfortunately, they are still not optimally managed. The most critically injured patients with hemodynamic instability require immediate diagnoses of potentially correctible conditions in the primary survey. Point-of-care ultrasonography (POCUS) performed by the responsible physician can be a tremendous adjunct to expediting diagnoses in the primary surgery and can typically be done in seconds rather than minutes. If more detailed sonographic examination is required, the secondary survey of the hemodynamically unstable patient is more appropriate. All involved in bedside care need to be conscious to efficiently integrate POCUS into resuscitation with the right intentions and goals to avoid sono-paralysis of the resuscitation sequence. Sono-paralysis has recently been described as critical situations wherein action is delayed through unnecessary imaging after a critical diagnosis has been made or unnecessary imaging details are sought despite an urgent diagnosis being made.

Prenatal diagnosis of the persistent right umbilical vein, incidence and clinical significance

Prenatal diagnosis of persistent right umbilical vein (PRUV) is important due to accompanying malformations. Pregnant women diagnosed with PRUV were analysed retrospectively. Intrahepatic PRUV was seen in 12 of 10.743 foetuses and its incidence was found to be 0.11%. The gestational week at the time of diagnosis was between 20 and 35 weeks. Six of the cases had additional abnormal sonographic findings (50%) and six cases (50%) were isolated. Major congenital malformations were seen in four (33.3%) foetuses, 75% of which were congenital heart disease (CHD). Genitourinary system anomaly accompanied in two cases (16.6%). Invasive diagnostic tests were applied to three pregnant women and the results were reported as normal karyotype. In PRUV cases, a detailed sonographic examination should be performed, especially the cardiovascular system. Although PRUV cases do not appear to be associated with chromosomal abnormalities, invasive diagnostic tests should be recommended in the presence of concomitant anomalies. Impact statement What is already known on this subject? The persistent right umbilical vein (PRUV) is a pathological vascular anomaly, in which the left umbilical vein regresses and the right umbilical vein remains open. PRUV can occur in an isolated form that represents its normal variant or be associated with other major or minor anomalies. What do the results of this study add? Additional abnormal sonographic findings were accompanied in 50% of PRUV, major anomaly was detected in 33.3% of them and cardiovascular abnormalities constituted 75% of foetuses with major anomalies. What are the implications of these findings for clinical practice and/or further research? The presence of concomitant anomalies in PRUV cases is not rare and detailed anatomy screening should be done. The most common accompanying abnormality is seen in the cardiovascular system, so foetuses with PRUV should be evaluated by foetal echocardiography.

Fetal Cystic Hygroma Associated with Terminal 2p25.1 Duplication and Terminal 3p25.3 Deletion: Cytogenetic, Fluorescent in Situ Hybridization and Microarray Familial Characterization of Two Different Chromosomal Structural Rearrangements.

We report a prenatally diagnosed case of partial trisomy 2p and partial monosomy 3p, resulting from unbalanced translocation (2;3)(p25.1;p25.3) of paternal origin. Parents were non consanguineous Caucasians, with familial history of recurrent miscarriages on the father’s side. Detailed sonographic examination of the fetus showed a septated cystic hygroma measuring 6 mm at 13 weeks’ gestation. Karyotyping and fluorescent in situ hybridization (FISH) analysis of cultured amniotic fluid cells revealed an unbalanced translocation der(3)t(2;3)(p25.1; p25.3) and apparently balanced inv(3)(p13p25.3) in a fetus. Parental cytogenetic evaluation using karyotyping and FISH analysis showed the presence of both a balanced translocation and a paracentric inversion in father t(2;3) (p25.1;p25.3) inv(3)(p13p25.3). Microarray analysis showed a 11.6 Mb deletion at 3p26.3-p25.3 and duplication of 10.5 Mb at the 2p25.3-p25 region. The duplicated region at 2p25.1p25.3 contains 45 different genes, where 12 are reported as OMIM morbid genes with different phenotypical implications. The deleted region at 3p26.3-p25.3 contains 65 genes, out of which 27 are OMIM genes.Three of these (CNTN4, SETD5 and VHL) were curated by Clingene Dosage Gene Map and were given a high haplo-insufficiency score. Genes affected by the unbalanced translocation could have contributed to some specific phenotypic changes of the fetus in late pregnancy. The application of different cytogenetic methods was essential in our case, allowing the detection of different types of structural chromosomal aberrations and more thorough genetic counseling for future pregnancies.

Mediastinal teratoma in a second trimester fetus

А case of a large mediastinal teratoma in a fetus with a large pleural effusion at 21 weeks of gestation is presented. Detailed sonographic examination showed a large, complex cystic and solid mass posterior to the sternum, in the upper anterior mediastinum, measuring 35 31 22 mm. The lungs were visualized without morphological changes or pulmonary arterial tree abnormalities, but they were relatively small. The couple opted for pregnancy termination at 23 weeks of gestation. Histological examination revealed an encapsulated immature teratoma.

Diagnostic Profile of Corpus Callosum Anomalies at a Tertiary Center: A Retrospective Cross-sectional Study

Objective: This study aimed to define the frequency and type of additional accompanying anomalies in cases with various anomalies of the corpus callosum (ACCs) in our tertiary center in the last 8 years. Material and Methods: This retrospective cross-sectional study included the data of 152 cases of prenatally diagnosed ACCs in a tertiary referral center between October 2012 and November 2020. We evaluated central nervous system and other organ system structural abnormalities, chromosomal abnormalities, and syndromes accompanying in non-isolated forms. Results: During the study period, a total of 152 cases with callosal anomaly were diagnosed throughout the study course in a population of 117,450 live births, resulting in an overall prevalence of 12.9 per 10,000 live births. Of the 152 cases ascertained, 105 (69%) were total agenesis, 38 (25%) were partial agenesis, and 9 (6%) were hypoplasia of the corpus callosum. Of these 152 cases, 80 (52.6%) had isolated ACC and the remaining 72 (47.4%) cases had at least one associated anomaly, including chromosomal anomalies, recognized syndromes, and multiple congenital abnormalities. Conclusion: ACCs are clinically and etiologically heterogeneous, and prenatal diagnosis is possible. Even in isolated cases, the neurodevelopmental prognosis is uncertain and mostly associated with other structural abnormalities, chromosomal and genetic diseases. Due to the underlying etiological cause, accompanying additional anomalies and uncertainty regarding developmental outcomes, chromosomal, syndromic, and additional structural disorders may be clues in antenatal ultrasonographic observation in ACC cases should be investigated with the more detailed sonographic examination and genetic tests.

Sonographic detection of fetal abnormalities before 11 weeks of gestation.

Sonographic detection of fetal abnormalities before 11 weeks of gestation.

The role of ultrasound in the choice between chorionic villus sampling and amniocentesis for patients with a positive NIPT result for trisomy 18/13.

What's already known about this topic? Positive predict value (PPV) is vitally important because it indicates the probability that a positive test result represents a true fetal abnormality. PPV of noninvasive prenatal testing (NIPT) is lower for trisomy 18/13 compared with trisomy 21. What does this study add? In our study cohort of women with a high‐risk noninvasive prenatal testing (NIPT) result and normal nuchal translucency measurement, >90% (32/35) of cases with true fetal trisomy 18/13 had a fetal abnormality on ultrasound, compared with none of the fetuses with confined placental mosaicism and normal amniocentesis result. Detailed sonographic examination of the fetus following a high‐risk NIPT result for trisomy 13/18 is an important component of clinical management and may influence the choice of confirmatory prenatal diagnostic procedure.

Risk of 22q11.2 deletion in fetuses with right aortic arch and without intracardiac anomalies.

To assess the risk of 22q11.2 deletion in fetuses with a prenatal diagnosis of right aortic arch without intracardiac anomalies (RAA-noICA). This was a retrospective study of all fetuses with RAA-noICA diagnosed prenatally at three referral centers, between 2004 and 2014. A detailed sonographic examination was performed in each case, including visualization of the thymus and of the head and neck vessels to identify the presence of an aberrant left subclavian artery (ALSA). Karyotyping and fluorescence in situ hybridization analysis for diagnosis of 22q11.2 deletion were always offered either prenatally or postnatally. Clinical and echocardiographic examinations were performed in livebirths and a postmortem examination in cases of termination of pregnancy. During the study period, 85 fetuses were diagnosed prenatally with RAA-noICA. Genetic or clinical data were not available for three cases and these were excluded from analysis. 22q11.2 deletion was found in 7/82 cases (8.5% (95% CI, 3.8-17.3%)). The thymus was small or non-visualized in all seven cases and additional abnormal sonographic findings were present in four. 22q11.2 deletion is present in a clinically significant proportion of fetuses with a prenatal diagnosis of RAA-noICA. In such cases, a detailed sonographic examination, with assessment of the thymus in particular, may be useful to further define the level of risk for 22q11.2 deletion. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd.

The use of imaging technology in the assessment of the fetal inflammatory response syndrome—imaging of the fetal thymus

The fetal inflammatory response syndrome (FIRS) describes a state of extensive fetal multi organ involvement during chorioamnionitis, and is associated with grave implications on perinatal outcome. The syndrome has been linked to the preterm parturition syndrome and is associated with inflammation/infection processes in most of the fetal organs. The fetal thymus, a major organ in the developing immune system involutes during severe neonatal disease and has been shown to be smaller in fetuses with FIRS. Various methods for imaging of the fetal thymus and measurement are described. Currently the only method to diagnose FIRS prenatally is through amniocentesis. We suggest that women who are admitted with preterm labor with intact membranes and those with PPROM should have a detailed sonographic examination of the fetal thymus as a surrogate marker of fetal involvement in intrauterine infection/inflammation processes.

2092070 Ultrasound Diagnosis of Persistent Right Umbilical Vein: The Struggle to Determine Significance Remains

Retrospective study of incidence and outcomes of prenatally diagnosed persistent right umbilical vein (PRUV). Between 1/2009 and 9/2014, a detailed sonographic examination was performed on 14,360 patients with mixed risk for fetal anomalies at a single University Medical Center. Persistent right umbilical veins were recorded. All patients with persistent right umbilical vein were offered fetal echo. If an additional anomaly was seen, genetic counseling was offered. All neonates were evaluated by a pediatrician post delivery. Persistent right umbilical vein was detected in 24/14,360 patients. Twenty five percent (6/24) had additional significant malformations. Eighty-three percent (5/6) were detected antenatally, and 67% (4/6) were cardiac anomalies. Eleven percent (2/18) of patients with isolated persistent right umbilical vein had fetal growth restriction (estimated fetal weight less than the tenth percentile for gestational age) on follow-up ultrasound. No other adverse perinatal outcomes found. The overall incidence of persitent right umbilical vein was 1/598. However, outcomes were generally favorable. Nonethless, fetal echocardiogram is suggested for all cases of PRUV due to increased risk of cardiac malformations, and fetal growth assessment is suggested in the third trimester due to increased risk of fetal growth restriction.Tabled 1Ultrasound Diagnosis of persistent right umbilical veinMean maternal age24.0 +/- 5.9 yearsMean gestational age at diagnosis25 5/7 +/- 6/7 weeksMale/female7:4Mean gestational age at delivery39 0/7 +/- 1 3/7 weeksMean birth weight3260 +/- 602 gramsMode of delivery33% Cesearean delivery67% vaginal deliveryAdditional anomalies1 Dandy Walker with persistent vena cava1 Tetralogy of Fallot1 hydronephrosis1 dextrocardia and lung hypoplasia1 large atrial septal defect (diagnosed postnatally)Genetic findings3/24 had genetic consultation0/24 opted for invasive diagnosisFetal echocardiogram21/24 opted for fetal echo5/24 had an abnormal fetal echoFetal Growth Restriction (EFW< 10%)20/24 had follow up growth ultrasounds(54% at 28 weeks and 77% at 32 weeks)2/18 isolated PRUV had fetal growthrestriction1/6 PRUV with associated significantanomaly had fetal growth restrictionIntrauterine fetal demise0Preterm delivery < 34 weeks0Low birth weight (<2,500 grams)2/6 with associated anomalies0/18 isolated PRUV Open table in a new tab

Prospective Assessment of the Rockall Risk Scoring System in Egyptian Patients with Upper Gastrointestinal Bleeding

Background: One of the major challenges in managing acute upper gastrointestinal bleeding involves the identification of patients who are at high risk of rebleeding and death; conversely, the identification of patients who are suitable for early discharge and outpatient endoscopy is also important for effective resource. The use of Rockall system has been shown to represent accurate and valid predictor of rebleeding and death. The aim of this prospective study was to evaluate validity of Rockall score for prediction of rebleeding and mortality in Egyptian patients with upper gastrointestinal bleeding. Patients and Methods: 50 patients presented with upper GI bleeding were subjected to detailed clinical, laboratory, sonographic and endoscopic examination together with Rockall score calculation. Results: According to the findings of upper GI endoscopy patients were further subdivided into two subgroups as follows: Group 1 (n = 32): Patients with portal hypertension manifested by variceal bleeding and/or portal hypertensive gastropathy; and Group 2 (n = 18): other causes of acute upper gastrointestinal bleeding (peptic ulcer disease, Mallory Weiss syndrome…). Clinical condition of the patients was assessed after 48 hours and mortality was recorded. Rockall score was the highest in mortality group, and higher in rebleeding group than stable group (P < 0.01). Rockall score was higher in Child C than Child B and Child A among hepatic patients (P < 0.01). The cutoff value of Rockall score = 3.5 was the best for prediction of rebleeding with sensitivity 100%, specificity 53%, while the cutoff value = 6.5 was the best for prediction of mortality with sensitivity 100% and 93.5% specificity. Conclusion: Rockall score is clinically useful in prediction of rebleeding and mortality in patients with upper gastrointestinal bleeding. It can accurately differentiate between patients with stable condition that could be discharged from hospital and those who require hospitalization and this could help to minimize hospital stay and cost.

Detailed ultrasound screening in the second trimester: Pictorial essay of normal fetal anatomy

Today, ultrasound is the main diagnostic tool in the prenatal detection of congenital abnormalities. Therefore, ultrasound examination should be offered to all pregnant women. A detailed sonographic examination of the fetus is usually performed between 18 and 22 weeks of pregnancy. The accurate recognition of normal fetal anatomy is very important for the detection of both minor and major defects. The purpose of this pictorial essay is to show fetal anatomic structures, which have to be examined between the 18(th) and 22(nd) weeks of pregnancy, and present their standard measurements systematically and thoroughly in accordance with sonographically obtained ideal sections.

Prenatal diagnosis of diastematomyelia: A case report and review of the literature

Diastematomyelia is a rare congenital disorder in which the spinal cord is divided longitudinally for part of its length. It can be accurately identified in the prenatal period by detailed sonographic examination of the spine. We report a case of diastematomyelia localized to spinal levels T6-T9 diagnosed prenatally at 31 weeks' gestation and review the existing literature on the diagnosis and management of this condition during pregnancy.

The Potential Value of Adding Colonic Sonography to Routine Abdominal Protocol in Patients With Active Pain

Abdominal sonography examinations include evaluation of solid intra-abdominal organs but do not routinely include assessment of the colon. The focus of this study was to determine the utility of colonic sonography in addition to abdominal imaging in the prospective evaluation of patients with nonspecific acute or subacute abdominal symptoms. Patients referred for abdominal sonography for investigation of abdominal pain were evaluated by performing routine abdominal sonography followed by a detailed colonic sonographic examination. Final diagnosis was established by a clinical history questionnaire. Twelve colon (46%) or colon-related pathologies were identified, occurring in the cohort of 26 patients with a mean age of 23 years (range, 18—77 years). Sonographic findings included normal colon ( n = 13), inflammatory bowel diseases ( n = 6), diverticular disease ( n = 5), and colon-related ancillary findings ( n = 1). The dedicated colon sonographic examination yielded a sensitivity of 91.6%, specificity of 92.8%, positive predictive value of 91.6%, and negative predictive value of 92.8% ( P &lt; .17). Integrating the dedicated colon sonographic examination in addition to the routine abdominal sonography identified significant bowel disease and provided additional information regarding causes of patient symptoms. As this is a pilot study, additional prospective studies in larger populations are required to confirm the results and conclusions.

Prenatal transient alveolomaxillary defect in a case of mucolipidosis II (I‐cell disease)

Mucolipidosis II (ML II or I-cell disease) is a rare inherited lysosomal storage disease that causes multisystem deterioration and death in early childhood. Little is known about the fetal features of this condition, and therefore the diagnosis is usually established postnatally when core symptoms occur, including severe growth/developmental delay, coarse facial features, multiplex skeletal deformities and joint limitation1. We report a case of ML II which presented an uncommon fetal sign of transient alveolomaxillary defect (TAD) on prenatal ultrasound imaging before 28 weeks' gestation. A 23-year-old Taiwanese primigravida was referred to our clinic for evaluation of fetal cleft lip/palate suspected on ultrasound examination at 24 weeks' gestation. Detailed sonographic examination confirmed the presence of an alveolomaxillary defect, in which a hole in the maxilla was identified but the soft tissue of the upper lip appeared intact (Figure 1). No other associated structural abnormality was noted. Chromosome analysis revealed a normal male karyotype. The mother denied any drug or teratogen exposure and the personal and family histories of both parents were unremarkable. The pregnancy was then followed with normal serial ultrasound examinations. Unexpectedly, the alveolomaxillary defect was no longer present in the repeat scans performed at 28 weeks' gestation and thereafter. The etiology of the TAD thus remained unknown during the prenatal period. Prenatal ultrasound image at 24 weeks' gestation showing the alveolomaxillary defect presenting as a hole (arrow) while the upper lip seems intact. The infant was born with a weight of 2105 g (10th percentile) via vaginal delivery at 37 weeks' gestation. No facial clefting was noted after birth. Magnetic resonance imaging and computed tomography revealed the craniofacial/maxillary structure to be normal (Figure 2). Cranial sonography presented no findings except mild left ventriculomegaly. Other features of the neonate included a left paramedian caruncle in the upper lip, light hair color, lax skin with sparse subcutaneous fat, long digits and bilateral inguinal hernia. At 2 months of age the infant presented with coarse facial features and dysostosis multiplex (generalized osteopenia, atlas hypoplasia, short, thick clavicles, thick elevated scapula with poorly formed glenoid fossa, oar-shaped ribs and lumbosacral spine). Lysosomal enzyme evaluation and molecular analysis confirmed the diagnosis of ML II. There was markedly increased lysosomal enzyme activity in the plasma and the infant was found to be compound heterozygous with two truncated mutations, c.2422delC (p.L808fsX19) and c.3565C > T (p.R1189X), in the disease-causing gene GNPTAB. The infant died of respiratory failure at the age of 14 months. The family declined necropsy and biopsy of the baby, precluding histopathological investigation of the alveolomaxillary region. Postnatal images of the patient at 14 days (a–c) and at 2 months (d,e) of age. Photographs show the following clinical features: (a) a left paramedian caruncle in the upper lip (arrowhead), light hair color, lax skin with sparse subcutaneous fat, (b) long fingers and (c) long toes. Magnetic resonance imaging (d) and computed tomography (e) examinations showed the alveolomaxillary structure to be normal. TAD is an extremely rare condition in fetuses. To our knowledge, the association of the sign with fetal ML II has not previously been reported, but maxillofacial lesions have been occasionally found in children with ML II2, 3. Some of the lesions found in affected children are surrounded by impacted tissue, and it has been suggested that this involves a process in which the bony defect is replaced with abnormal connective tissue3. Indeed, recent studies have shown that ML II can lead to abnormalities in connective tissues with frequent skeletal involvement4-6. Maxillary deformation followed by tissue replacement associated with ML II may account for the TAD seen in our patient. The possible association of TAD and fetal ML II may provide useful information for prenatal diagnosis and counseling; that is, even a transient bony defect may imply an underlying inherited metabolic condition such as lysosomal storage disease. M. Chen* ** §§, Y.-Y. Ke* §, S.-P. Chang*, D.-J. Lee , C.-H. Chen¶, G.-C. Ma* ¶¶, * Department of Genomic Medicine, Erlin branch, Changhua, Taiwan, Department of Medical Research, Erlin branch, Changhua, Taiwan, Department of Obstetrics and Gynecology, Erlin branch, Changhua, Taiwan, § Department of Pediatrics, Changhua Christian Hospital, Erlin branch, Changhua, Taiwan, ¶ Department of Obstetrics and Gynecology, Changhua Christian Hospital, Erlin branch, Changhua, Taiwan, ** Department of Obstetrics and Gynecology, College of Medicine and Hospital, National Taiwan University, Taipei, Taiwan, Department of Medical Genetics, College of Medicine and Hospital, National Taiwan University, Taipei, Taiwan, Department of Life Sciences, National Chung-Hsing University, Taiwan, §§ Department of Life Sciences, Tunghai University, Taiwan, ¶¶ Institute of Biochemistry and Biotechnology, Chung Shan Medical University, Taichung, Taiwan

Prenatal sonographic findings in a fetus with splenogonadal fusion limb defect syndrome

Splenogonadal fusion limb defect syndrome (SGFLD) is a very rare abnormality. We report on a case with prenatal sonographic findings of a fetus with postnatally diagnosed SGFLD syndrome. This is also the second case of prenatal ultrasonographic diagnosis of gastrointestinal malrotation associated with SGFLD. A 26-year-old primigravid woman was referred to our clinic because of nonvisualization of both fetal femoral bones at 20 weeks of gestation. A detailed sonographic examination showed complete bilateral absence of lower limbs, micrognathia, single umbilical artery and a right-sided stomach. Autopsy confirmed prenatal sonographic findings and additionally showed that the spleen was abnormally connected to the left gonad by a fibrous band. In conclusion, although all limbs and both sides were equally affected in most of the reported cases, SGFLD syndrome should be considered in cases with terminal limb defects of lower limbs.

Prenatal diagnosis of Holt‐Oram syndrome: Role of 3‐D ultrasonography

Holt-Oram syndrome (HOS) is an autosomal dominant disorder consisting of a congenital heart defect in combination with upper limb abnormalities. This report presents the ultrasonographic follow-up of a fetus at risk for this syndrome. An abnormal four-chamber view of the heart and slight shortening of the forearm were found by prenatal ultrasound performed at 16 weeks of gestation. At 25 weeks of gestation, detailed sonographic examination clearly revealed abnormalities in the upper limbs and heart of the fetus. At 39 weeks of gestation, spontaneous labor and delivery produced a female infant weighting 2940 g. Postnatal examination of the infant confirmed the prenatal sonographic findings. 3-D ultrasound has an important role in prenatal diagnosis of HOS, which is essential for proper genetic counseling.

Sonographic diagnosis of mesothelial cyst of the diaphragm

We present a case of a female patient of 65 years of age, who was referred to our clinic for surgery because of a suspected intrahepatic cyst, and who was suffering from upper abdominal complaints. Detailed sonographic examination revealed a cystic process outside the liver, the respiratory shift of structures during the sonographical examination being the criterion. However the final diagnosis of a mesothelial cyst of the diaphragm was possible only after laparotomy and histological examination.

New sonographic procedure for the study of the scrotal contents with a rotating sound head

The article reports on a sonographic method to examine the scrotal content by means of a rotating sound head in a water-bath. For this purpose, the rectal sound supplied by Brüel and Kjaer is employed in a modified form. This method permits satisfactorily detailed sonographic examination of the scrotal content free from contact and pain. A statistical comparison of the sonographic and surgical findings reveals good agreement.

Short humerus: An additional antenatal sonographic feature of OFDS type II

The prevalence of skeletal dysplasia in the neonatal period is 2.4/10,000 births; it accounts for 1-2% of perinatal deaths, mainly stillbirths. A long bone measurement of less than -4 standard deviations is a definitive indication of skeletal dysplasia, whereas measurement between -2 and -4 standard deviations warrants detailed sonographic examination for other associated anomalies to arrive at a diagnosis. We report a case of oral-facial-digital syndrome type II that presented antenatally with polyhydramnios, short humerus, polydactyly, and duplicated thumb.