Screening For Anomalies Research Articles

Risk Factors of Velamentous Cord Insertion in Singleton Pregnancies-A Systematic Review and Meta-Analysis.

Objective: This meta-analysis aims to quantitatively summarize current data on various potential risk factors of velamentous cord insertion (VCI). A better understanding of these risk factors could enhance prenatal identification both in settings with routine screening and in those where universal screening for cord insertion anomalies is not yet recommended. Methods: A systematic search was conducted in MEDLINE, Cochrane Library, and Scopus from their inception until 7 February 2024. Eligible studies included observational studies of singleton pregnancies with VCI, identified either prenatally or postnatally, compared with pregnancies with central or eccentric cord insertion. Analyses were performed using DerSimonian and Laird random-effects models, with outcomes reported as risk ratios (RR) or mean differences with 95% confidence intervals (CI). Results: In total, 14 cohort and 4 case-control studies were included, reporting on 952,163 singleton pregnancies. Based on the cohort studies, the overall prevalence of VCI among singleton pregnancies was calculated to be 1.54%. The risk of VCI was significantly higher among pregnancies conceived using assisted reproductive technology (RR, 2.32; 95% CI: 1.77-3.05), nulliparous women (RR, 1.21; 95% CI: 1.15-1.28), women who smoked (RR, 1.14; 95% CI: 1.08-1.19), and pregnancies diagnosed with placenta previa (RR, 3.60; 95% CI: 3.04-4.28). Conclusions: This meta-analysis identified assisted reproductive technology, nulliparity, smoking, and placenta previa as significant risk factors of VCI among singleton pregnancies. These findings could inform screening policies in settings where universal screening for cord insertion is not routinely performed, suggesting a targeted approach for women with these specific risk factors.

The impact of counselors’ values and religious beliefs on their role identity and perspectives on heritable genome editing: a qualitative interview study

The implementation of the noninvasive prenatal test has shown the importance of involving future care providers in healthcare innovations at an early stage. Therefore, in this explorative study in-depth interviews were performed with Dutch midwife counselors who explicitly identify as religious, to explore how they currently deal with their worldview during counseling for prenatal anomaly screening and regarding their perspectives on heritable genome editing (HGE). HGE is a potentially disruptive technology in which a pregnancy is initiated with a modified embryo or gamete, thus passing on modified genes to a future child and the following generations. Currently, a significant majority of countries prohibit HGE. However, implications for healthcare policy and practice are discussed in an ongoing scientific and societal dialogue. Eleven counselors participated: eight Christians and three Muslims. Two main themes were identified: ‘a search for role identity as a healthcare counselor’ and ‘concerns about the application of HGE’. Our findings showed that both values and underlying worldview-based beliefs influence perspectives on current and emerging reproductive techniques. Healthcare counselors search for ways to harmonize their professional role with contrasting values based on worldview-based beliefs. Moreover, for HGE, counselors fear ‘slippery slopes’ regarding the boundaries between treatment and enhancement, the severity assessment of certain conditions, and society’s appreciation for the quality of life of people with disabilities. Regarding future implementation, counselors’ medical education might benefit from a focus not only on qualification (acquiring knowledge) but also on balancing between socialization (e.g., adhering the norm of nondirective counseling) and subjectification (being a ‘self’ in relation to everything learned). In the global call for broad public and stakeholder engagement to explore the acceptability of HGE, the influence of both values and beliefs should be deliberated.

Maternal hypothyroidism and the risk of preeclampsia: a Danish national and regional study

BackgroundMaternal hypothyroidism in pregnancy has been proposed to increase the risk of preeclampsia, but uncertainties persist regarding the underlying causal mechanisms. Thus, it remains unclear if an increased risk of preeclampsia in hypothyroid pregnant women is caused by the lack of thyroid hormones or by the autoimmunity per se.MethodsWe conducted a retrospective study of two pregnancy cohorts in the Danish population. The nationwide cohort (n = 1,014,775) was register-based and included all singleton pregnancies in Denmark from 1999–2015. The regional cohort (n = 14,573) included the biochemical measurement of thyroid stimulating hormone (TSH), thyroid peroxidase antibodies (TPO-Ab), and thyroglobulin antibodies (Tg-Ab) (ADVIA Centaur XPT, Siemens Healthineers) among pregnant women in The North Denmark Region from 2011–2015 who had a blood sample drawn in early pregnancy as part of routine prenatal screening for chromosomal anomalies. The associations between diagnosed and biochemically assessed hypothyroidism and a diagnosis of preeclampsia were evaluated using logistic regression (adjusted odds ratio (aOR) with 95% confidence interval (CI)) adjusting for potential confounders, such as maternal age, diabetes, and parity.ResultsIn the nationwide cohort, 2.2% of pregnant women with no history of hypothyroidism (reference group (ref.)) were diagnosed with preeclampsia, whereas the prevalence was 3.0% among pregnant women with hypothyroidism (aOR 1.3 (95% CI: 1.2–1.4)) and 4.2% among women with newly diagnosed hypothyroidism in the pregnancy (aOR 1.6 (95% CI: 1.3–2.0)). In the regional cohort, 2.3% of women with early pregnancy TSH < 2.5 mIU/L (ref.) were diagnosed with preeclampsia. Among women with TSH ≥ 6 mIU/L, the prevalence was 6.2% (aOR 2.4 (95% CI: 1.1–5.3)). Considering thyroid autoimmunity, preeclampsia was diagnosed in 2.2% of women positive for TPO-Ab (> 60 U/mL) or Tg-Ab (> 33 U/mL) in early pregnancy (aOR 0.86 (95% CI: 0.6–1.2)).ConclusionsIn two large cohorts of Danish pregnant women, maternal hypothyroidism was consistently associated with a higher risk of preeclampsia. Biochemical assessment of maternal thyroid function revealed that the severity of hypothyroidism was important. Furthermore, results did not support an association between thyroid autoimmunity per se and preeclampsia.

Association between risk of infant death and birth-weight z scores according to gestational age: A nationwide study using the Finnish Medical Birth Register.

To investigate the association between infant mortality and birth weight using estimated fetal weight (EFW) versus birth-weight charts, by gestational age (GA). This nationwide population-based study used data from the Finnish Medical Birth Register from 2006 to 2016 on non-malformed singleton live births at 24-41+6 weeks of gestation (N = 563 630). The outcome was death in the first year of life. Mortality risks by birth-weight z score, defined as a continuous variable using Maršál's EFW and Sankilampi's birth-weight charts, were assessed using generalized additive models by GA (24-27+6, 28-31+6, 32-36+6, 37-38+6, 39-41+6 weeks). We calculated z score thresholds associated with a two- and three-fold increased risk of infant death compared with newborns with a birth weight between 0 and 0.675 standard deviations. The z score thresholds (with corresponding centiles in parentheses) associated with a two-fold increase in infant mortality were: -3.43 (<0.1) at 24-27+6 weeks, -3.46 (<0.1) at 28-31+6 weeks, -1.29 (9.9) at 32-36+6 weeks, -1.18 (11.9) at 37-38+6 weeks, and - 1.34 (9.0) at 39-41+6 weeks according to the EFW chart. These values were - 2.43 (0.8), -2.62 (0.4), -1.34 (9.0), -1.37 (8.5), and - 1.43 (7.6) according to the birth-weight chart. The association between birth weight and infant mortality varies by GA whichever chart is used, suggesting that different thresholds for the screening of growth anomalies could be used across GA to identify high-risk newborns.

Detection of non-cardiac fetal abnormalities on ultrasound at 11-14 weeks: systematic review and meta-analysis.

To assess the diagnostic accuracy of two-dimensional ultrasound at 11-14 weeks' gestation as a screening test for individual fetal anomalies and to identify factors impacting on screening performance. This was a systematic review and meta-analysis that was developed and registered with PROSPERO (CRD42018111781). MEDLINE, EMBASE, Web of Science Core Collection and the Cochrane Library were searched for studies evaluating the diagnostic accuracy of screening for 16 predefined, non-cardiac, congenital anomalies considered to be of interest to the early anomaly scan. We included prospective and retrospective studies from any healthcare setting conducted in low-risk, mixed-risk and unselected populations. The reference standard was the detection of an anomaly on postnatal or postmortem examination. Data were extracted to populate 2 × 2 tables and a random-effects model was used to determine the diagnostic accuracy of screening for the predefined anomalies (individually and as a composite). Secondary analyses were performed to determine the impact on detection rates of imaging protocol, type of ultrasound modality, publication year and index of sonographer suspicion at the time of scanning. Post-hoc secondary analysis was conducted to assess performance among studies published during or after 2010. Risk of bias assessment and quality assessment were undertaken for included studies using the Quality Assessment of Diagnostic Accuracy Studies-2 tool. From 5684 citations, 202 papers underwent full-text review, resulting in the inclusion of 52 studies comprising 527 837 fetuses, of which 2399 were affected by one or more of the 16 predefined anomalies. Individual anomalies were not equally amenable to detection on first-trimester ultrasound: a high (> 80%) detection rate was reported for severe conditions, including acrania (98%), gastroschisis (96%), exomphalos (95%) and holoprosencephaly (88%); the detection rate was lower for open spina bifida (69%), lower urinary tract obstruction (66%), lethal skeletal dysplasias (57%) and limb-reduction defects (50%); and the detection rate was below 50% for facial clefts (43%), polydactyly (40%) and congenital diaphragmatic hernia (38%). Conditions with a low (< 30%) detection rate included bilateral renal agenesis (25%), closed spina bifida (21%), isolated cleft lip (14%) and talipes (11%). Specificity was > 99% for all anomalies. Secondary analysis showed that detection improved with advancing publication year, and that the use of imaging protocols had a statistically significant impact on screening performance (P < 0.0001). The accurate detection of congenital anomalies using first-trimester ultrasound is feasible, although detection rates and false-positive rates depend on the type of anomaly. The use of a standardized protocol allows for diagnostic performance to be maximized, particularly for the detection of spina bifida, facial clefts and limb-reduction defects. Highlighting the types of anomalies amenable to diagnosis and determining factors enhancing screening performance can support the development of first-trimester anomaly screening programs. © 2024 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.

Role of artificial-intelligence-assisted automated cardiac biometrics in prenatal screening for coarctation of aorta.

Although remarkable strides have been made in fetal medicine and the prenatal diagnosis of congenital heart disease, around 60% of newborns with isolated coarctation of the aorta (CoA) are not identified prior to birth. The prenatal detection of CoA has been shown to have a notable impact on survival rates of affected infants. To this end, implementation of artificial intelligence (AI) in fetal ultrasound may represent a groundbreaking advance. We aimed to investigate whether the use of automated cardiac biometric measurements with AI during the 18-22-week anomaly scan would enhance the identification of fetuses that are at risk of developing CoA. We developed an AI model capable of identifying standard cardiac planes and conducting automated cardiac biometric measurements. Our data consisted of pregnancy ultrasound image and outcome data spanning from 2008 to 2018 and collected from four distinct regions in Denmark. Cases with a postnatal diagnosis of CoA were paired with healthy controls in a ratio of 1:100 and matched for gestational age within 2 days. Cardiac biometrics obtained from the four-chamber and three-vessel views were included in a logistic regression-based prediction model. To assess its predictive capabilities, we assessed sensitivity and specificity on receiver-operating-characteristics (ROC) curves. At the 18-22-week scan, the right ventricle (RV) area and length, left ventricle (LV) diameter and the ratios of RV/LV areas and main pulmonary artery/ascending aorta diameters showed significant differences, with Z-scores above 0.7, when comparing subjects with a postnatal diagnosis of CoA (n = 73) and healthy controls (n = 7300). Using logistic regression and backward feature selection, our prediction model had an area under the ROC curve of 0.96 and a specificity of 88.9% at a sensitivity of 90.4%. The integration of AI technology with automated cardiac biometric measurements obtained during the 18-22-week anomaly scan has the potential to enhance substantially the performance of screening for fetal CoA and subsequently the detection rate of CoA. Future research should clarify how AI technology can be used to aid in the screening and detection of congenital heart anomalies to improve neonatal outcomes. © 2024 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.

Early Screening for Long QT Syndrome and Cardiac Anomalies in Infants: A Comprehensive Study.

(1) Background: Sudden Infant Death Syndrome (SIDS) represents sudden and unexplained deaths during the sleep of infants under one year of age, despite thorough investigation. Screening for a prolonged QTc interval, a marker for Long QT Syndrome (LQTS), should be conducted on all newborns to reduce the incidence of SIDS. Neonatal electrocardiograms (ECGs) could identify congenital heart defects (CHDs) early, especially those not detected at birth. Infants with prolonged QTc intervals typically undergo genetic analysis for Long QT Syndrome. (2) Methods: The study involved infants aged 20-40 days, born with no apparent clinical signs of heart disease, with initial ECG screening. Infants with prenatal diagnoses or signs/symptoms of CHDs identified immediately after birth, as well as infants who had previously had an ECG or echocardiogram for other medical reasons, were excluded from the study. We used statistical software (SPSS version 22.0) to analyze the data. (3) Results: Of the 42,200 infants involved, 2245 were enrolled, with 39.9% being males. Following this initial screening, 164 children (37.8% males) with prolonged QTc intervals underwent further evaluation. Out of these 164 children, 27 children were confirmed to have LQTS. However, only 18 children were finally investigated for genetic mutations, and mutations were identified in 11 tests. The most common mutations were LQT1 (54.5%), LQT2 (36.4%), and LQT3 (1 patient). Treatment options included propranolol (39.8%), nadolol (22.2%), inderal (11.1%), metoprolol (11.1%), and no treatment (16.7%). The most common abnormalities were focal right bundle branch block (54.5%), left axis deviation (9.2%), and nonspecific ventricular repolarization abnormalities (7.1%). Multiple anomalies were found in 0.47% of children with focal right bundle branch block. Structural abnormalities were associated with specific features in 267 patients (11.9%), primarily isolated patent foramen ovale (PFO) at 61.4%. (4) Conclusions: This screening approach has demonstrated effectiveness in the early identification of LQTS and other cardiac rhythm anomalies, with additional identification of mutations and/or prolonged QTc intervals in family members. Identifying other ECG abnormalities and congenital heart malformations further enhances the benefits of the screening.

Comparison of Different Ultrasonic Screening Methods and Analysis of High Risk Factors for Fetal Cardiac Malformation in Second Trimester of Pregnancy.

Current study aims to compare the application of two-dimensional (2D) color doppler ultrasound (CDU) and four-dimensional (4D) ultrasound spatiotemporal image correlation (STIC) in fetal congenital heart disease in the second trimester of pregnancy and to analyze the high risk factors of the disease. From August 2019 to July 2021, 135 second-trimester patients with highly suspected congenital heart malformations were selected who underwent prenatal screening at South Taihu Hospital Affiliated to Huzhou University. 2D-CDU, 4D STIC, and postnatal examination were completed in all patients. 2D-CDU, 4D STIC and 2D-CDU combined with 4D STIC were used to detect fetal cardiac malformations and classify cardiac malformations. The sensitivity, specificity, positive predictive value, negative predictive value and coincidence rate of 2D-CDU, 4D STIC and 2D-CDU combined with 4D STIC were compared. The results of 2D-CDU, 4D STIC and 2D-CDU combined with 4D STIC screening were analyzed for consistency using the results of postpartum diagnosis as the gold standard. Moreover, effects of maternal gestational factors on fetal cardiac malformations by univariate and multivariate analysis. 2D-CDU combined with 4D STIC showed significantly higher section display number than 2D-CDU or 4D STIC in the view of ductal arch, aortic arch, and aortic short-axis. A total of 45 cases of fetal congenital heart malformation were detected in 135 patients in the second trimester, 40, 38 or 42 cases were detected by 2D-CDU, 4D STIC or 2D-CDU combined with 4D STIC, respectively. The sensitivity, specificity, positive predictive value, negative predictive value and coincidence rate of 2D-CDU combined with 4D ultrasound in congenital heart malformation screening were higher than those of 2D-CDU or 4D STIC. Kappa agreement analysis showed that the diagnostic results of 4D STIC and 2D-CDU combined with 4D ultrasound in fetuses with suspected congenital heart malformation were in excellent agreement (κ > 0.75), while 2D-CDU was in good agreement with postpartum diagnosis (κ < 0.75). Univariate and multivariate regression analysis revealed that maternal age ≥ 35, drinking during pregnancy, and history of adverse pregnancy and childbirth were all independent risk factors for fetal cardiac malformations, while folic acid supplementation was an independent protective factor for fetal cardiac malformations. 2D-CDU combined with 4D echocardiography may be superior to single 2D-CDU or 4D STIC in the screening of fetal congenital heart malformation in the second trimester. In order to reduce the incidence of fetal heart anomalies, we should strengthen the screening of pregnancy anomalies in high-risk pregnant women and control the risk factors.

European association of perinatal medicine (EAPM) position statement: Screening, diagnosis and management of congenital anomalies of the umbilical cord

Congenital anomalies of the umbilical cord are associated with an increased risk of pregnancy and perinatal complications. Some anomalies of the cord have a higher prevalence than other fetal structural anomalies. The most common anomalies are the absence of an umbilical artery and velamentous insertion of the cord (with or without vasa previa). These anomalies, even when not associated with fetal structural defects, increase the risk of adverse perinatal outcome including, fetal growth restriction and stillbirth. In the absence of prenatal diagnosis, vasa previa is associated with the highest perinatal morbidity and mortality of all congenital anomalies of the umbilical cord. Most cases can be detected by ultrasound from the beginning of the second trimester and should be included in the routine mid-pregnancy ultrasound examination. Documentation should include cord insertion site, number of vessels in the cord, and if other pathologies have been detected. Pregnancies at increased risk of velamentous cord insertion should be screened for vasa previa using transvaginal ultrasound and colour Doppler imaging. If a velamentous cord insertion or isolated single umbilical artery is detected, individualised follow-up during pregnancy and tailored obstetric management are indicated.

Increased Nuchal Translucency and Pregnancy Outcomes: A Tertiary Center Data

Aim: This study aimed to evaluate the pregnancy outcomes of patients who applied to our clinic between the 11th and 14th weeks of pregnancy and whose nuchal translucency (NT) measurement was ≥1.5 multiples of the median (MoM). Material and Methods: The study included 85 patients whose NT measurement was determined ≥1.5 MoM and pregnancy results were available. Demographic characteristics of the patients, prenatal invasive diagnostic test results, fetal anomaly screening, fetal echocardiography (ECHO) results, and neonatal and obstetric results were evaluated. Results: Abnormal karyotype was detected in 10.6% (n=9) of the patients. Trisomy 21 was the most common chromosomal anomaly. Fetal structural anomaly was detected in 29.4% (n=25) of the patients. A structural fetal anomaly was detected in 21% (n=13) of fetuses with normal karyotypes and 66.7% (n=6) of fetuses with abnormal karyotypes. Cardiac anomalies were found to be the most common anomalies with 9.7% (n=6) in patients with normal karyotype. NT and NT MoM values in patients with fetal structural (both p=0.001) or chromosomal anomalies (p=0.011, and p=0.019, respectively) were found significantly higher than those without. NT and NT MoM values in patients whose pregnancies resulted in fetal loss were found significantly higher than in patients who had a live birth (both p=0.001). Conclusion: Increasing NT or NT MoM values indicate an increase in the risk of chromosomal anomalies, structural anomalies, and poor pregnancy outcomes in the fetus. Fetal anomaly screening and fetal ECHO should be recommended in patients with increased NT, even if a normal karyotype is detected.

Development of a Standardized Algorithm for Management of Newly Diagnosed Anorectal Malformations.

Neonates with a new diagnosis of anorectal malformation (ARM) present a unique challenge to the clinical team. ARM is strongly associated with additional midline malformations, such as those observed in the VACTERL sequence, including vertebral, cardiac, and renal malformations. Timely assessment is necessary to identify anomalies requiring intervention and to prevent undue stress and delayed treatment. We utilized a multidisciplinary team to develop an algorithm guiding the midline workup of patients newly diagnosed with ARM. Patients were included if born in or transferred to our neonatal intensive care unit (NICU), or if seen in clinic within one month of life. Complete imaging was defined as an echocardiogram, renal ultrasound, and spinal magnetic resonance imaging or ultrasound within the first month of life. We compared three periods: prior to implementation (2010-2014), adoption period (2015), and delayed implementation (2022); p ≤ 0.05 was considered significant. Rates of complete imaging significantly improved from pre-implementation to delayed implementation (65.2% vs. 50.0% vs. 97.0%, p = 0.0003); the most growth was observed in spinal imaging (71.0% vs. 90.0% vs. 100.0%, p = 0.001). While there were no differences in the rates of identified anomalies, there were fewer missed diagnoses with the algorithm (10.0% vs. 47.6%, p = 0.05). We demonstrate that the implementation of a standardized algorithm can significantly increase appropriate screening for anomalies associated with a new diagnosis of ARM and can decrease delayed diagnosis. Further qualitative studies will help to refine and optimize the algorithm moving forward.

Incorporation of vasa previa screening into a routine anomaly scan: A single center cohort study.

Vasa previa (VP), defined as unprotected fetal vessels traversing the membranes over the cervix, is associated with a high perinatal mortality when undiagnosed prenatally. Conversely, prenatal diagnosis with ultrasound and cesarean delivery before the membranes rupture is associated with excellent outcomes. However, controversy exists regarding screening for VP. In the UK, routine screening for VP is not recommended. The objective of this study was to report the incidence of VP and our experience in the detection of VP with a universal screening protocol at the time of the second-trimester fetal anomaly scan with third-trimester confirmation in an unselected population of pregnancies. We performed a single-center historical cohort study of all pregnant women who underwent routine second-trimester anomaly screening scans at West Middlesex University Hospital, London, UK, between 2012 and 2016. Over 5 years, every patient undergoing routine anomaly screening was evaluated for VP using a systematic protocol during their 20-week anomaly scan. Suspected cases of VP were rescanned in the third trimester by specialist sonographers with an interest in VP. The primary outcomes were the incidence and detection of VP. During the study period, 24 690 anatomy scans were performed. A total of 64 patients were identified as having potential VP at the second-trimester anomaly screening scan, of which 19 were confirmed by the specialist sonographer in the third trimester and at delivery. The screen positive rate was 0.26% (95% confidence interval [CI] 0.20%-0.32%). VP at birth was found in 19/24690 births (1:1299 [95% CI: 1:832-1:2030] births). Universal screening for VP using our protocol had a sensitivity of 100% and a specificity of 99.78% (95% CI: 99.72%-99.84%). The false-positive rate of the second-trimester screen was 0.18% (95% CI: 0.13-0.24). There were no false positives or false negatives at delivery. Of the 19 patients with confirmed VP, 17 had scheduled cesarean deliveries, and two required emergency deliveries due to antepartum hemorrhage. One baby died, giving a perinatal mortality of 5%. VP complicates approximately 1:1300 pregnancies. Routine screening for VP yielded a 100% detection rate. We suggest the inclusion of structured VP assessment in standard fetal anomaly screening programs.

Postnatal outcome of fetal aberrant right subclavian artery: a single center study.

This study aims to explore the correlation between fetal aberrant right subclavian artery (ARSA) and chromosomal disorders, with a specific focus on Down syndrome and DiGeorge syndrome. From November 2017 to February 2020, we conducted fetal anomaly screening and assessed the fetal heart in 8494 at our institution. The right subclavian artery tracing was assessed using Doppler ultrasonography following the 3-vessel and tracheal views (3VTV) in the fetal heart scan. ARSA was found in 31 fetuses, which accounts for 0.36% of the total of 8494 fetuses. 96.8% of fetuses with ARSA were found to have normal chromosomal analysis. We identified only one case of trisomy 21 as the chromosomal condition present. In 80% of the identified ARSA, there were no additional associated findings. ARSA is a rare condition that often does not manifest any concomitant abnormalities. The majority of ARSA instances identified in the second trimester are euploid. If ARSA is the only sonographic finding during fetal anomaly screening and there are no maternal or laboratory risk factors, further evaluation with non-invasive diagnostics may be recommended. Non-invasive genetic testing may be used for additional investigation.

Impact of first-trimester anomaly scan on health-related quality of life and healthcare costs: a scoping review.

The first-trimester anomaly scan (FTAS) has the potential to detect major congenital anomalies in an early stage of pregnancy. Due to this potential early detection, there is a trend to introduce FTAS in regular care. Data regarding the impact of FTAS on the patient's perspective are limited. To provide an overview of the literature assessing the impact of the FTAS on health-related quality of life (HRQoL) and healthcare costs. Literature search was performed in Embase, PubMed, Medline Ovid, Cochrane Library database, Web-of-Science, and Google Scholar were searched. All studies that reported the performance of a nuchal translucency measurement with a basic fetal assessment HRQoL or healthcare costs of FTAS were included. Studies solely describing screening of chromosomal anomalies were excluded. Three authors independently screened the studies and extracted the data. Results were combined using descriptive analysis. PROSPERO registration number: CRD42016045190. The search yielded 3242 articles and 16 were included. Thirteen articles (7045 pregnancies) examined the relationship between FTAS and HRQoL. Anxiety scores were raised temporarily before FTAS and returned to early pregnancy baseline following the absence of anomalies. Depression scores did not change significantly as a result of FTAS. Three articles studied healthcare costs. These studies, published before 2005, found a combination of FTAS and second-trimester anomaly scan (STAS) resulted in an increased amount of detected anomalies when compared to a STAS-only regimen. However, the combination would also be more costly. Women experience anxiety in anticipation of the FTAS result and following a reassuring FTAS result, anxiety returns to the baseline level. FTAS seems to be a reassuring experience. The included studies on costs showed the addition of FTAS is likely to increase the number of detected anomalies against an increase in healthcare costs per pregnancy.Review registration: PROSPERO CRD42016045190.

Congenital Mullerian anomalies may lead to acute life threatening emergency in reproductive age group- An experience in a tertiary care centre in Eastern India

Congenital Mullerian anomalies are associated with higher incidence of reproductive failure and adverse obstetrical outcomes. The new ESHRE classification is a precise way to describe a genital anomaly in simple way. Many genital tract anomalies lead to devastating life-threatening conditions but under-reported and poorly explained. This study aims at finding out those anomalies which more frequently lead to specific diseases needing emergency intervention to save life of the patient. This longitudinal observational study evaluates the diagnosis and treatment of 12 patients with congenital Mullerian abnormalities which led to life threatening emergency with case discussion and pictorial documentation. Among 12 women with uterine anomalies 4 abortions, 7 delivered preterm, 1 term delivery occurred. Majority of complications associated with U3 types (58.3%). Other types with complications are U4 (25%) and U2 (16.7%). Presenting features at emergency varied like mimicking ectopic, labour complications, ruptured corpus, placenta previa and accreta as well as iatrogenic perforation. Presence of congenital uterine anomalies have adverse effect on obstetrical outcome. Majority of complications are associated with U2, U3 &amp; U4. Probably U1 doesn’t interfere with ongoing pregnancy and U5 fails to continue pregnancy. This knowledge warrants the need for a larger case control study to extrapolate these findings to the general population and also to recommend the need for universal Prenatal Screening for uterine anomalies so as to improve the obstetrical outcome in patients with uterine anomalies.

Nailfold dermoscopy predicts the absence of a capillaroscopy sclerodermic pattern: The multicentre, prospective VASCUL-R trial.

Nailfold capillaroscopy is recommended to diagnose primary or secondary Raynaud's phenomenon (RP). Capillaroscopy is normal in primary RP, which is the most frequent. Screening for RP capillary anomalies with nailfold dermoscopy has been promising. To determine whether normal nailfold dermoscopy-based on the absence of five criteria that define a sclerodermic pattern-is able to predict normal capillaroscopy with good positive-predictive value (PPV). Prospective, 2-phase (monocentre and multicentre) study on patients at first consultation for RP undergoing nailfold video capillaroscopy (NVC) and nailfold dermoscopy by two different 'blinded' trained observers, respectively, a vascular specialist and a dermatologist, not familiar with capillaroscopy. The five criteria noted were as follows: disorganization, megacapillaries, low capillary density, avascular areas and haemorrhages. Based on 105 patients, the dermoscopy PPV for a normal NVC was 100% (p = 0.015), with 37.9% sensitivity, when no criterion was observed. Excluding haemorrhages, the PPV remained 100% (p < 0.0001), with sensitivity rising to 73.7% and 100% specificity. Normal nailfold dermoscopy with the absence of four easy-to-observe criteria predicts normal NVC with an excellent PPV.

Accurate Building Energy Management Based on Artificial Intelligence

Abstract Artificial intelligence (AI) plays a pivotal role as a technical facilitator in the domain of building energy management. This paper presents the construction of a sophisticated model for building energy management, leveraging data-driven techniques and machine learning methodologies inherent to AI. The model encompasses three integral modules: characterization of building energy consumption, screening for anomalies in energy consumption, and forecasting of energy usage. Characterization is performed through a data analysis approach. At the same time, anomaly detection utilizes a Gaussian mixture model for data mining and modeling, enabling dynamic and precise identification of states of high energy consumption following clustering analysis. Additionally, the model employs cyclic features and DEEM to accurately predict future energy consumption patterns. The efficacy of this robust energy management model was validated through a case study at Hospital A, located in Changsha, Hunan Province, China. Notably, the total energy consumption at this facility witnessed a modest increase of 1.65% in 2023 compared to the previous year, with a projection of a substantial 24.62% rise in 2024. The surgery building, among various functional units of the hospital, was identified as the most energy-intensive, anticipated to utilize 4.03 million kgce in 2024. Furthermore, the disparity between actual electrical energy and oil consumption in 2023 and those forecasted was contained within 8% and 10%, respectively, underscoring the model’s high predictive accuracy.

Epileptic Seizure Detection by Cascading Isolation Forest-Based Anomaly Screening and Easy Ensemble

Epileptic Seizure Detection by Cascading Isolation Forest-Based Anomaly Screening and Easy Ensemble

Associated anomalies in anophthalmia and microphthalmia

Infants with anophthalmia and microphthalmia (an/microphthalmia) have often other associated congenital anomalies. The reported frequency and the types of these associated anomalies vary between different studies. The purpose of this investigation was to assess the frequency and the types of associated anomalies among cases with an/microphthalmia in a geographically well defined population of northeastern France of 387,067 consecutive pregnancies from 1979 to 2007. Of the 98 infants with an/microphthalmia born during this period (prevalence at birth of 2.53 per 10,000), 88.8 % had associated anomalies. Cases with associated anomalies were divided into recognizable conditions (25 (25.5%) cases with chromosomal and 17 (17.3%) cases with non chromosomal conditions), and non recognizable conditions (45–45.9%- cases with multiple congenital anomalies –MCA). Trisomy 13 and trisomy 18 were the most frequent chromosomal abnormalities. Amniotic bands sequence, oculo-auriculo-vertebral spectrum, CHARGE syndrome and VACTERL association were most often present in recognizable non chromosomal conditions. Anomalies in the musculoskeletal, cardiovascular and central nervous systems were the most common other anomalies in cases with MCA and non recognizable conditions. However, given the limitation of the limited numbers of cases there should be urging caution in interpreting these results. In conclusion the frequency of associated anomalies in infants with anophthalmia and microphthalmia emphasizes the need for a thorough investigation of these cases. Routine screening for other anomalies especially musculoskeletal, cardiac and central nervous systems anomalies may need to be considered in infants with anophthalmia and microphthalmia, and referral of these cases for genetic counselling seems warranty.

Prenatal ultrasound screening and pregnancy outcomes in HIV-positive women in Germany: results from a retrospective single-center study at the Charité-Universitätsmedizin Berlin.

The aim of this study was to investigate the rate of Mother-to-child-transmission (MTCT) in women living with HIV (WLWH) in a tertiary care institution. Furthermore, we aimed to assess prenatal ultrasound screening for fetal anomalies and outcomes in high-risk pregnancies due to maternal HIV infection." In this single-center study, retrospective data related to pregnancy and childbirth were collected from 420 WLWH. All data were evaluated descriptively. From January 2014 to December 2020, a total number of 420 pregnant WLWH delivered 428 newborns. 415 (98.8%) were receiving antiretroviral therapy (ART) and 88.8% had a viral load of < 50 cop/ml prior delivery. 46 (11%) of the newborns were born prematurely. Low birth weight < 2500g occurred in 38 (9.1%) of the children. 219 (52.1%) caesarean sections (CS) were performed. The most frequent indication for an elective CS was a previous CS (70.2%). 8 severe malformations were detected using first and second trimester ultrasound. In one child, MTCT was detected postpartum, resulting in an HIV transmission rate of 0.2% in the presented cohort. The low rate of vertical HIV-transmission in our cohort of 0.2% is the result of interdisciplinary prenatal care and high experience of healthcare providers in treatment of WLWH. Despite high ART coverage and adherence, good maternal immune system and very low vertical HIV transmission rate, maternal HIV infection remains a challenge in obstetric care. First and second ultrasound screening should be a part of prenatal care for HIV-infected women and should also be offered to HIV-negative women. A reduction of the rate of unnecessary elective caesarean deliveries in WLWH is necessary to reduce complications in subsequent pregnancies.