Screening For Anomalies Research Articles

Conservative management for fetal megacystis: A clinical based approach

Background: Fetal megacystis is an enlargement of the fetal urinary bladder that is a rare ultrasonography finding during routine antenatal screening. Though intrauterine genetic screening is widely used to determine the prognosis of this condition in resource rich settings, in the developing world, clinician often has to rely on clinical judgement for proper counselling and management of women with such foetal presentations. Case presentation: We present a case of a 31 years old lady who presented at our facility as a referral case at a gestational age of 25 weeks for termination of pregnancy due to an incidental ultrasonography finding of an enlarged fetal urinary bladder with oligohydramnious. Initial evaluation at our facility led to diagnosis of foetal megacystis with no other congenital anomalies. An informed expectant management was carried out under close follow up and finally delivered a 4.2 kg baby by caesarean section at 39 weeks. The baby is currently 4months of age, with normal renal function parameters on routine care and urological follow up. Conclusion: Foetal megacystis is a rare condition with diverse aetiology. Genetic screening for chromosomal anomalies is a major prognostic indicator however in resource limited setup, a clinician has to rely on clinical judgement to provide the patient with the necessary information to make an informed decision between expectant management or termination of pregnancy.

Risk Factors Associated With Renal and Urinary Tract Anomalies Delineated by an Ultrasound Screening Program in Infants.

ObjectiveTo evaluate the value of ultrasound screening for congenital anomalies of the kidney and urinary tract (CAKUT) during the early postnatal period.MethodsThis is a prospective study that enrolled all neonates born from August 2019 to July 2020 at one medical center. Postnatal ultrasound screening was conducted in all neonates at 1, 3, and 6 months old, respectively. Information on antenatal detection and pregnancy was collected. We performed logistic regression analyses and established a predictive model to assess the potential risk factors of abnormal ultrasound screening results.ResultsPostnatal ultrasound scanning in 4,877 infants identified 268 cases (5.5%) of anomalies of kidney and urinary tract by primary screening and 92 cases (1.9%) by tertiary screening. A specific diagnosis was identified in 47 cases within the 6-month screening and follow-up program. Logistic regression revealed that preterm birth, oligohydramnios, antenatal ultrasound screening anomalies, and gestational hypothyroidism were independent risk factors for the early detection of CAKUT by postnatal ultrasound screening. The above factors were adopted to develop a predictive model that showed good calibration in predicting ultrasound findings of CAKUT. Decision curve analysis demonstrated good clinical utility.ConclusionsPostnatal ultrasound screening should be conducted in infants with risk factors associated with CAKUT. Further study on prenatal and fetal factors could help establish the predictive model for the early detection of CAKUT.

A Novel Approach towards Automatic Contour Identification of Jaw Cysts from Digital Panoramic Radiographs to improvise the Treatment planning

Panoramic dental x-ray, a two-dimensional dental x-ray that captures the entire mouth in a single image, is used for the initial screening of various dental anomalies. One such is Jaw bone cyst, which, if not identified earlier, may lead to complications which in turn may lead to disfigurement and loss of function. Hence processing of radiographic images plays a vital role in identifying and locating the cystic region and extracting related features to assist clinical experts in further analysis. Objective: To develop an application of active contour model, known as Geodesic Active Contour, to generate Panoramic Dental X-Ray, a single 2 D X-ray image of the entire mouth highlighting the dental specifications. Methods: The process involves the image conversion from the OPG image into grayscale, Contrast adjustment using intensity level slicing, edge smoothing, segmentation, and cyst segmentation by Morphological Geodesic Active Contour to obtain the results. Hence processing of radiographic images plays a vital role in identifying and locating the cystic region. It is crucial in extracting related features to assist clinical experts in further analysis. Conclusion: When efficient and accurate diagnostic methods exist, the treatment and cure become easy and concrete. Based on the morphological snake and level sets, it aims at identifying the boundary by minimizing the energy. Results: Using the structural similarity index, an accuracy of 97.6% is obtained. Advances in Knowledge: This process is advantageous as it is simpler, faster, and does not suffer from instability problems. Morphological methods improve their functional gradient descent by improving stability and speed. The hysteresis algorithm exhibits better edge detection performance, a significant reduction in computational time and scalability.

PRETERM DETECTION OF CONGENITAL ANOMALIES BY ULTRASOUND AND CORRELATION WITH POSSIBLE ASSOCIATED RISK FACTORS

The aim: This descriptive, cross-sectional study aims to determine the prevalence of congenital anomalies in the Iraqi population, the associated risk factors & to emphasize the importance of ultrasound examination during pregnancy especially in the high-risk group. Materials and methods: Data were collected from three private ultrasound clinics in different areas in Baghdad, where many pregnant women were examined over one year and those who had abnormal fetus were questioned about any possible risk factor. Results: The study revealed a prevalence of (14/1000). The most common anomalies are those related to the central nervous system. Some of the patients had no risk factors, others had one or more, the most important of which was consanguinity. Conclusions: The prevalence of congenital anomaly had both geographical and temporal variations, but in general, it was increasing with time and became relatively higher in the middle and south of Iraq compared with the north. This may be related to differences in ethnic, social and demographic factors as well as environmental factors, like pollution and war residues. Ultrasound had a valuable role in screening, detection and follow-up of congenital anomalies. It is a safe, available and cost-effective examination that should be offered to every pregnant woman, especially those with high-risk pregnancies.

Pattern and distribution of prenatally diagnosed congenital anomalies among high risk pregnant women in Ibadan, South Western Nigeria.

IntroductionCongenital anomalies (CA) are structural or functional disorders present at birth. Routine prenatal ultrasound screening has become an indispensable tool for early detection of CA in developed countries which will facilitate appropriate preemptive actions for safe guarding the health of both mother and the unborn fetus. The prevalence of CA in the general population has been researched widely but very few studies exist on the prevalence of CA among high risk pregnancies. Aims and objective: the aim of this study was to determine the prevalence and pattern of congenital anomalies among high risk pregnant women in Ibadan, South West, Nigeria.Methodsthis multicenter cross sectional study was conducted in three different hospitals in Ibadan, South West, Nigeria between August 2018 and July 2019. High risk pregnant women that met the inclusion criteria were recruited for the study. Participants underwent detailed fetal anomaly scans at gestational ages between 18-26 weeks during the study period using a Voluson P6 ultrasound machine (GE Healthcare Korea). Written informed consents were obtained from the participants. All the fetuses with ultrasound diagnosed congenital anomalies were followed up till either termination of pregnancy or delivery. Ethical approval was obtained for the study. The data were analyzed using SPSS.Resultsa total of 418 high risk pregnant women underwent detailed fetal anomaly scan and CAs were detected in 13(3.1%) of them. Spontaneous abortion was the most common maternal risk factor reported although the association between it and congenital anomaly was not significant. The highest number of anomalies were detected in the genitourinary system while the least was in the central nervous system.Conclusionthe prevalence of high risk pregnant women is high in our environment but the incidence of CA among them is similar to that reported in the general population. Thus, prenatal ultrasonographic screening for congenital anomalies is necessary for all pregnant women irrespective of their risk status.

Epileptic Seizure Detection by Cascading Isolation Forest-Based Anomaly Screening and EasyEnsemble.

The electroencephalogram (EEG), for measuring the electrophysiological activity of the brain, has been widely applied in automatic detection of epilepsy seizures. Various EEG-based seizure detection algorithms have already yielded high sensitivity, but training those algorithms requires a large amount of labelled data. Data labelling is often done with a lot of human efforts, which is very time-consuming. In this study, we propose a hybrid system integrating an unsupervised learning (UL) module and a supervised learning (SL) module, where the UL module can significantly reduce the workload of data labelling. For preliminary seizure screening, UL synthesizes amplitude-integrated EEG (aEEG) extraction, isolation forest-based anomaly detection, adaptive segmentation, and silhouette coefficient-based anomaly detection evaluation. The UL module serves to quickly locate the determinate subjects (seizure segments and seizure-free segments) and the indeterminate subjects (potential seizure candidates). Afterwards, more robust seizure detection for the indeterminate subjects is performed by the SL using an EasyEnsemble algorithm. EasyEnsemble, as a class-imbalance learning method, can potentially decrease the generalization error of the seizure-free segments. The proposed method can significantly reduce the workload of data labelling while guaranteeing satisfactory performance. The proposed seizure detection system is evaluated using the Children's Hospital Boston-Massachusetts Institute of Technology (CHB-MIT) scalp EEG dataset, and it achieves a mean accuracy of 92.62%, a mean sensitivity of 95.55%, and a mean specificity of 92.57%. To the best of our knowledge, this is the first epilepsy seizure detection study employing the integration of both the UL and the SL modules, achieving a competitive performance superior or similar to that of the state-of-the-art methods.

Сytogenetic techniques in current biomedical research. part i: history and theoretical basis of human cytogenetics

Cytogenetics is an essential part of human genetics which studies the structure of chromosomes and their collection which is called karyotype. Cytogenetic techniques are employed while interrogating DNA organisation and compaction. Analysis of the chromosomal structure contributes to uncovering the molecular basis of various cellular processes in normal and pathological conditions. Furthermore, spectrum and frequency of chromosome abnormalities serves as an indicator of mutagenic effects. Cytogenetic techniques became indispensable for discovering the genetic causes of human diseases at different stages of ontogenesis. Genetic abnormalities are a common cause of impaired reproductive function, abnormal pregnancy, and neonatal malformations. Genetic screening for chromosomal abnormalities and congenital anomalies is a powerful tool for reducing the genetic load in human populations as well as disease, psychological and social burden on families and societies. This paper begins the cycle of lectures on molecular basis of human cytogenetics, cytogenetic techniques, and the corresponding research and clinical applications. The lecture is primarily aimed at biomedical students and physicians who often have an unmet need to analyse and interpret the results of cytogenetic analyses.

Automatic Screening for Ocular Anomalies Using Fundus Photographs.

Screening for ocular anomalies using fundus photography is key to prevent vision impairment and blindness. With the growing and aging population, automated algorithms that can triage fundus photographs and provide instant referral decisions are relevant to scale-up screening and face the shortage of ophthalmic expertise. This study aimed to develop a deep learning algorithm that detects any ocular anomaly in fundus photographs and to evaluate this algorithm for "normal versus anomalous" eye examination classification in the diabetic and general populations. The deep learning algorithm was developed and evaluated in two populations: the diabetic and general populations. Our patient cohorts consist of 37,129 diabetic patients from the OPHDIAT diabetic retinopathy screening network in Paris, France, and 7356 general patients from the OphtaMaine private screening network, in Le Mans, France. Each data set was divided into a development subset and a test subset of more than 4000 examinations each. For ophthalmologist/algorithm comparison, a subset of 2014 examinations from the OphtaMaine test subset was labeled by a second ophthalmologist. First, the algorithm was trained on the OPHDIAT development subset. Then, it was fine-tuned on the OphtaMaine development subset. On the OPHDIAT test subset, the area under the receiver operating characteristic curve for normal versus anomalous classification was 0.9592. On the OphtaMaine test subset, the area under the receiver operating characteristic curve was 0.8347 before fine-tuning and 0.9108 after fine-tuning. On the ophthalmologist/algorithm comparison subset, the second ophthalmologist achieved a specificity of 0.8648 and a sensitivity of 0.6682. For the same specificity, the fine-tuned algorithm achieved a sensitivity of 0.8248. The proposed algorithm compares favorably with human performance for normal versus anomalous eye examination classification using fundus photography. Artificial intelligence, which previously targeted a few retinal pathologies, can be used to screen for ocular anomalies comprehensively.

Ductus venosus agenesis – significance, impact and management

Introduction. The ductus venosus is a intrahepatic venous connection between the left portal vein and inferior vena cava in the fetus. Regarding agenesis of the ductus venosus (DVA) real incidence in not known. Material and methods. In high-risk population its prevalence is reported as up to 1 in 2500 cases. Approximatively 20% of DVA may be asymptomatic. Cardiac, extracardiac and chromosomal anomalies may be associated. We conducted a review analyzing a total of 7 studies and a total of 151 cases of pregnancies with DVA. Results. 19.2% cases were isolated incidental findings with no other anomalies associated. Overall adverse outcome was identified in 74 cases, mostly due to chromosomal anomalies, multiple malformations, and cardiac anomalies. For 40 of these cases termination of pregnancy was recommended. Although 104 of pregnancies reached postpartum life, death occurred in 19 cases after birth. Conclusions. In cases with isolated DVA discovery, the prognosis is favorable, thereby counseling should be reassuring. However, a careful assessment of the umbilical vein connections and a careful second trimester screening for cardiac and extracardiac anomalies should be performed.

Time Series Anomaly Detection for KPIs Based on Correlation Analysis and HMM

KPIs (Key Performance Indicators) in distributed systems may involve a variety of anomalies, which will lead to system failure and huge losses. Detecting KPI anomalies in the system is very important. This paper presents a time series anomaly detection method based on correlation analysis and HMM. Correlation analysis is used to obtain the correlation between abnormal KPIs in the system, thereby reducing the false alarm rate of anomaly detection. The HMM (Hidden Markov Model) is used for anomaly detection by finding the close relationship between abnormal KPIs. In our correlation analysis of abnormal KPIs, firstly, the time series prediction model (1D-CNN-TCN) is proposed. The residual sequence is obtained by calculating the residual between the predicted value and the actual value. The residual sequence can highlight the abnormal segment in each data point and improve the accuracy of anomaly screening. According to the obtained residual sequence, these abnormal KPIs are preliminarily screened out from the historical data. Next, KPI correlation analysis is performed, and the correlation score is obtained by adding a sliding window onto the obtained anomaly index residual sequence. The correlation analysis based on the residual sequence can eliminate the interference of the original data fluctuation itself. Then, a correlation matrix of abnormal KPIs is constructed using the obtained correlation scores. In anomaly detection, the constructed correlation matrix is processed to obtain the adaptive parameters of the HMM model, and the trained HMM is used to quickly discover the abnormal KPI that may cause a KPI anomaly. Experiments on public data sets show that the method obtains good results.

Fetal structural and genetic anomaly screening. Are we doing it correct at the age of NIPT?

No abstract available

Review of Prenatal Aneuploidy Screening Uptake Rate and Trends in Iran, and Developed Countries

: Prenatal screening of different anomalies including chromosomal aneuploidies have become a part of routine pregnancy care in most countries around the world. These tests can help pregnant mothers to have informed decisions. In this study we gathered relevant scientific and governmental/official data about uptake rate of these screenings in different developed countries and Iran. We have tried to use the latest articles and reports, and also consider to the global trend of screening and abortion policies in developed countries. Also, some pitfalls when comparing prenatal screening of different countries will be explained. These data can help to have a better insight about Iran’s prenatal screening status when compared with developed countries to improve public health policies.

Amniocentesis and chorionic villus sampling: Green-top Guideline No. 8 July 2021: Green-top Guideline No. 8.

Amniocentesis and chorionic villus sampling: Green-top Guideline No. 8 July 2021: Green-top Guideline No. 8.

Learning normal appearance for fetal anomaly screening: Application to the unsupervised detection of Hypoplastic Left Heart Syndrome

Congenital heart disease is considered as one the most common groups of congenital malformations which affects 6 − 11 per 1000 newborns. In this work, an automated framework for detection of cardiac anomalies during ultrasound screening is proposed and evaluated on the example of Hypoplastic Left Heart Syndrome (HLHS), a sub-category of congenital heart disease. We propose an unsupervised approach that learns healthy anatomy exclusively from clinically confirmed normal control patients. We evaluate a number of known anomaly detection frameworks together with a new model architecture based on the α-GAN network and find evidence that the proposed model performs significantly better than the state-of-the-art in image-based anomaly detection, yielding average 0.81 AUC and a better robustness towards initialisation compared to previous works.

Prevalence Rate of Congenital Fetal Malformations in Second Trimester by Ultrasound Scanning in Zagazig University Outpatient Clinic

Background: All pregnancies are at a risk of producing congenital malformations, though only some of them are at a greater risk. Congenital anomalies its problem in which abnormalities of structure, function or body metabolism resulting in physical or mental disability or it may be fatal. Objective: This study aimed for early detection of major fetal anomalies to improve fetal and maternal outcome. Patients and methods: This cross-sectional study that include 422 pregnant females was carried out at the Ultrasound Unit and Obstetrics & Gynecology Department, Faculty of Medicine, Zagazig University during the period from December 2018 to July 2019. Results: Ultrasonography can identify at least 35-50% of major fetal malformations with a specificity of 90-100%. Though other methods of screening like biochemical markers and karyotyping are available, ultrasonography has the advantage of being non- invasive, safe, fast, accurate and reproducible with real time display, causing no discomfort to the patient at any time of gestation. Conclusions: The Prevalence of congenital fetal malformations (CFMF) among the study participants using ultrasonography scanning was 3.6%. The most prevalent anomalies were Hydrops fetalis and CVS anomalies. Therefore screening for congenital anomalies in obstetric sonography is an important component of primary healthcare for maternal and child health.

Screening for Fetal Aneuploidy and Sex Chromosomal Anomalies in a Pregnant Woman With Mosaicism for Turner Syndrome-Applications and Advantages of Cell-Based NIPT.

Background: Cell-free NIPT and cell-based NIPT are risk-free testing options using maternal blood samples to screen for fetal aneuploidies, but the methods differ. For cell-free NIPT, the fetal fraction of cell-free DNA in plasma is analyzed with a high background of maternal DNA. In contrast, for cell-based NIPT, a limited number of the rare, intact fetal cells are isolated for the genetic analysis. This case demonstrates the differences regarding testing for fetal sex-chromosomes anomalies (SCAs) between these two tests.Materials and Methods: A pregnant woman with mosaicism for Turner syndrome opted for NIPT in first trimester. For the cell-free NIPT analysis, DNA extraction, genome-wide massive parallel sequencing, and data analysis were carried out as described by the kit manufacturer (Illumina©, San Diego, CA, USA). For cell-based NIPT, the first sample gave no result, but the woman consented to repeat cell-based NIPT. After whole genome amplification and STR analysis, fetal DNA from three individual fetal cells was subjected to chromosomal microarray (aCGH, Agilent oligoarray, 180 kb).Results: Fetal fraction was 7%, and cell-free NIPT showed 2 copies of chromosomes 13, 18, and 21 and a decreased proportion of chromosome X, suggestive of fetal Turner syndrome. In contrast, the cell-based NIPT result showed no aneuploidy and two X-chromosomes in the fetus.Conclusion: cell-based NIPT may provide a non-invasive testing option to screen for SCAs in women with mosaicism for monosomy-X in blood, where cell-free NIPT cannot discriminate whether the X-loss is maternal or fetal.

Visuospatial functions in preterm schoolchildren without cognitive delay: Using Pascual's Graphomotor test as a screening method

BackgroundPreterm children obtain worse scores in tests that evaluate visuospatial functions. Pascual's graphomotor test (PGMt) assesses maturity in copying drawings in childhood, quickly evaluating the graphomotor aptitude that is a partial aspect of non-verbal intelligence. AimsTo evaluate visuospatial functions in preterm children compared to full-term children. To assess the capacity of the Pascual graphomotor test (PGMt) to detect visuospatial disorders more specifically than non-verbal intelligence quotient (IQ).Study design and subjects: case and control study. Cases: preterm children between 5 and 11 years of age without cognitive delay; controls: full-term children with the same characteristics. For each child clinical history, neurological examination, language-free intelligence test Toni 2 (IQ) and Pascual's graphomotor test (PGMt) were carried out. Results135 children were enrolled (59 cases vs. 79 controls). The mean age was 7.4 years. 55% were male. The mean gestational age of cases was 30.5 weeks with 34% extremely preterm.Cases obtained worse mean scores in both tests. The mean IQ scores were: cases 117.4, controls 125.0 (p = 0.004). The mean graphomotor quotient (GQ) scores were statistically and clinically significant (cases 76.8; controls 98.3, p = 0.001). Although we have found a positive correlation between IQ and GQ scores (cc = 0.31 p = 0.01), the differences found in the GQ between groups have been maintained regardless of the IQ in the multivariate analysis (GQ: cases 78.3 (SD 14.8), controls 98.3 (SD 12.5), p = 0.04). ConclusionsGQ is a useful tool for screening for visuospatial anomalies. GQ more specifically measures the visuoperceptive disorder regardless of non-verbal cognitive level.

A Single Institutional Review of Periauricular Vestiges and Renal Anomalies: The Role of Screening Renal Ultrasonography

Children with minor ear malformations including periauricular vestiges often undergo renal ultrasonography (RUS) to exclude renal anomalies associated with genetic conditions. The aim of this study is to assess the association between isolated periauricular vestiges and renal anomalies and delineate the indication for RUS in screening for renal anomalies. This is a retrospective review of infants who underwent surgical consultation for periauricular vestige excision to probe a possible relationship with renal anomalies. Patients with an isolated vestige were compared to patients presenting with additional clinical findings suggestive of a possible genetic disorder. A total of 150 infants underwent periauricular vestige excision; 47 were referred for RUS, 23 with no additional clinical findings, and 24 with periauricular vestiges in addition to other suspicious clinical and/or developmental findings. Of these 47 patients, 10 had renal anomalies: 4 (17.4%) with an isolated periauricular vestige had minor anomalies and 6 (25.0%) with a vestige plus suspicious clinical signs had 5 minor anomalies and one major anomaly. The odds of a patient with an isolated periauricular vestige having positive RUS findings were not significantly different than a patient with additional clinical findings having positive RUS findings (P = 0.72).The incidence of renal anomalies in infants with an isolated periauricular vestige was similar to that in patients with associated clinical signs suggestive of a possible genetic disorder. This was higher than the background population rate. Although most anomalies in patients with isolated ear findings were minor, our results suggest routine screening RUS should be considered.

Diagnostic accuracy of ultrasound screening for fetal structural abnormalities during the first and second trimester of pregnancy in low-risk and unselected populations

Objectives This is a protocol for a Cochrane Review (diagnostic). The objectives are as follows: The main objectives of this review are to assess the diagnostic accuracy of first‐ and second‐trimester fetal anomaly screening in low‐risk pregnant women, and to compare overall performance of single‐ and two‐stage screening approaches with regards to the number of cases detected before birth, as well as the proportion of false positive diagnoses. Secondary objectives Our secondary objective is to identify potential sources of heterogeneity between studies by investigating the effect of clinical factors (i.e. prior testing, factors related to the conduct of the ultrasound examination, and healthcare setting of the study) and methodological factors (i.e. related to the study design, such as methods used for postnatal ascertainment of cases) on screening performance.

Diagnosis of central nervous system abnormalities: comparison of prenatal neurosonography and foetal magnetic resonance imaging findings

Magnetic resonance imagining (MRI) is gradually becoming the more preferred imaging modality in the evaluation of central nervous system (CNS) abnormalities rather than foetal ultrasonography (USG). The aim of this study was to compare the findings of prenatal neurosonography and foetal MRI. The study was a retrospective study analysing the records of 160 pregnant women who underwent both foetal MRI and USG due to suspicion of CNS abnormalities between 2008 and 2019. Indications for applying foetal MRI were neurosonography and foetal MRI findings. When the compatibility between MRI and USG results was examined in CNS abnormalities, it was found fully compatible in 61.3% of cases, partially compatible in 24.53% of cases, and not compatible in 14.5% of cases. When comparing prenatal neurosonography and foetal MRI findings, additional findings were reported in 16.9% of cases, and no additional finding was reported in 66.8% of cases. While normal anatomical findings were reported in 8.8% of the cases in MRI, the diagnosis made by neurosonography changed in 7.5%. Foetal MRI has more advantages than USG both in imaging the CNS abnormalities in more detail and in determining the accompanying additional anomalies. IMPACT STATEMENT What is already known on this subject: USG is a safe, practical and cost-effective primary imaging method that is widely used for foetal anomaly screening. However, there may sometimes be difficulties in evaluating the foetal brain structures due to foetal position which is unsuitable for imaging, extremely obese with a high body mass index, oligohydramnios and ossified foetal skull. For this reason, magnetic resonance imaging (MRI) is used as the most commonly used imaging method after USG in the evaluation of foetal anatomy, especially CNS. What do the results of this study add?: In our study, we saw that foetal MRI has more advantages than neurosonography in both seeing CNS abnormalities in more detail and recognising additional anomalies that may accompany. What are the implications of these findings for clinical practice and/or further research?: We have seen that besides neurosonography, foetal MRI can provide important information that can affect the clinical approach in pregnancy management by increasing the correct diagnosis in pregnancies with congenital CNS abnormalities. MRI: it is the best secondary imaging modality that can aid diagnosis in addition to neurosonography in the diagnosis of CNS abnormalities and in suspected cases. Therefore, foetal MRI should be used more widely in prenatal diagnosis.