Universal Screening Program Research Articles

EPIDEMIOLOGY OF BREAST CANCER IN THE ARAB REGION BETWEEN 1999 AND 2024: A NARRATIVE REVIEW

Breast cancer (BC) poses a significant health challenge in both developed and developing countries, with limited research in the Arab region compared to the West. The aim of this review was to provide a comprehensive perspective on breast cancer incidence and mortality trends between 1999 and 2024, considering diverse socio-cultural and economic factors.A thorough literature review was conducted using sources such as PubMed, Medline, and recent WHO publications. Findings revealed that the incidence of breast cancer in the Arab world increased gradually during the period studied. However, the incidence of breast cancer among women in the Arab region was lower than the global average, and the mortality rate among women with breast cancer in the Arab region was lower than the global average. Age-standardized incidence and mortality rates have increased since 1990.The country-specific data showed that the more developed Arab countries tended to have a higher burden of breast cancer. Factors such as urbanization, increased life expectancy, and adoption of westernized lifestyles have been associated with the observed increase in breast cancer rates. Despite promising breast cancer screening initiatives, most Arab countries lack a structured universal screening program and participation rates are very low.The increasing incidence and burden of BC in the Arab region is remarkable, especially considering the limited resources of developing countries in this region. Appropriate strategies such as expansion of screening programs and careful resource management are needed to effectively manage the burden of BC.

Genetic background of hypercholesterolemia in a large cohort of pediatric patients detected through universal screening program

Genetic background of hypercholesterolemia in a large cohort of pediatric patients detected through universal screening program

Cost-effectiveness of screening for developmental dysplasia of the hip in Karachi, Pakistan using a universally applicable cost-effectiveness model

IntroductionDevelopmental dysplasia of the hip (DDH) is a congenital anomaly of the hip socket that can lead to lifelong disability and pain when left untreated. DDH is a good candidate...

Real-world genetic testing outcomes of pan-cancer testing for mismatch repair deficiency.

In 2017, the Food and Drug Administration approved pembrolizumab for treatment of any mismatch repair-deficient (dMMR) tumor making MMR immunohistochemistry (IHC) testing beneficial for all tumor types. For the first time, MMR IHC was not performed exclusively to screen for Lynch syndrome (LS). In this study, all MMR IHC reports issued between 2017 and 2021 at an academic hospital were reviewed and completion of genetic testing was determined through chart review. Colorectal cancers (CRCs), endometrial cancers (ECs), and noncancerous lesions were excluded. Between 2017 and 2021, MMR IHC was completed in 1939 patients with a malignancy other than CRC or EC. Absent or weak staining for at least one MMR protein was detected in 115 (5.9%) patients and 59 (51%) of those completed germline genetic testing. Overall, the identification rate of LS in this cohort was 0.72%, which is similar to the rate in our previously reported CRC and EC universal screening cohort. A diagnosis of LS was most commonly made in patients with dMMR brain (18.75%) and small intestinal cancers (10.20%). Five additional patients were found to carry a pathogenic variant in a non-LS gene. Pan-cancer MMR testing for pembrolizumab consideration can identify LS cases at a rate similar to universal CRC and EC screening programs. A persistent challenge is subsequent uptake of genetic testing. MMR testing should be prioritized in brain and small intestinal tumors, and multigene panel testing is recommended in patients with dMMR, as unexpected pathogenic variants in non-LS genes were found as frequently as LS gene variants.

Carbapenemase-Producing Enterobacteriaceae detected in a Large Canadian Tertiary Care Hospital: Five-year retrospective study

Background: The prevalence of carbapenemase-producing Enterobacteriaceae (CPE) is increasing worldwide. In Canada, where rates of healthcare-associated (HA) transmission of CPE remains relatively low, there is a need to share early experience of universal screening programs and risk factors for HA acquisition. Method: In 2018, universal screening was introduced throughout our large Canadian tertiary care hospital across, all critical care and oncology units. Additionally, risk-factor based screening was applied in all other inpatient units, with further targeted screening of roommate exposures or all inpatients on unit following identification of a single HA case. A retrospective cohort study was carried out on CPE cases detected between January 2018 and December 2023. We assessed the proportion of HA CPE cases, defined as CPE identified in patients with prior admission to our facility or after >72 hours after admission. HA cases were examined for relevant risk factors, including known roommate with CPE, the presence of other CPE on the unit, exposure to outbreak units, prior travel history, travel by a family member, and antibiotic exposure within the past 90 days. Result: A total of 150 CPE cases were identified, with 66 (44%) classified as HA. Among these HA cases, 14 (21%) were associated with presence of known case on the unit. The remaining 52 (79%) represented sporadic nosocomial cases without a known exposure or further transmission on the unit. Upon further retrospective review, 6 (9.2%) HA cases had documented travel history or exposure to a family member with recent travel to China, India, Sri Lanka, or the United States within the past year. Nearly all HA cases (62, 95.4%) had antibiotic exposure within 90 days of CPE detection; specifically, 47 (72.3%) received beta-lactams, 42 (64.6%) cephalosporin, 25 (38.5%) glycopeptide, 20 (30.8%) carbapenem, and 8 (12.3%) macrolide. Conclusion: HA CPE acquisition identified during the first 5-years of universal screening were mostly sporadic and not associated with known exposures or other risk factors. Receipt of prior antibiotics was present in nearly all cases.

The global burden of breast cancer in women from 1990 to 2030: assessment and projection based on the global burden of disease study 2019.

This study aims to analyze the worldwide prevalence, mortality rates, and disability-adjusted life years (DALYs) attributed to breast cancer in women between 1990 and 2019. Additionally, it seeks to forecast the future trends of these indicators related to the burden of breast cancer in women from 2020 to 2030. Data from the Global Burden of Disease Study (GBD) 2019 was analyzed to determine the age-standardized incidence rate (ASIR) and age-standardized death rate (ASDR) of DALYs due to breast cancer in women across 204 countries and territories from 1990 to 2019. Socio-economic development levels of countries and regions were assessed using Socio-demographic Indexes, and trends in the burden of breast cancer in women worldwide from 2020 to 2030 were projected using generalized additive models (GAMs). The estimated annual percentage change (EAPC) in the ASIR breast cancer in women globally was 0.36 from 1990 to 2019 and is expected to increase to 0.44 from 2020 to 2030. In 2019, the ASIR of breast cancer in women worldwide was 45.86 and is projected to reach 48.09 by 2030. The burden of breast cancer in women generally rises with age, with the highest burden expected in the 45-49 age group from 2020 to 2030. The fastest increase in burden is anticipated in Central sub-Saharan Africa (EAPC in the age-standardized death rate: 1.62, EAPC in the age-standardized DALY rate: 1.52), with the Solomon Islands (EAPC in the ASIR: 7.25) and China (EAPC in the ASIR: 2.83) projected to experience significant increases. Furthermore, a strong positive correlation was found between the ASIR breast cancer in women globally in 1990 and the projected rates for 2030 (r = 0.62). The anticipated increase in the ASIR of breast cancer in women globally by 2030 highlights the importance of focusing on women aged 45-49 in Central sub-Saharan Africa, Oceania, the Solomon Islands, and China. Initiatives such as breast cancer information registries, raising awareness of risk factors and incidence, and implementing universal screening programs and diagnostic tests are essential in reducing the burden of breast cancer and its associated morbidity and mortality.

Identifying best practices for substance-related intimate partner violence screening and referral: a narrative review.

Substance use is strongly associated with intimate partner violence (IPV) and is a modifiable risk factor for IPV. However, lack of comprehensive screening and referral for co-occurring IPV and substance use, along with their psychiatric sequalae, limits the identification and implementation of effective interventions for substance-related IPV. This narrative review (1) investigates the literature on screening and referral practices for IPV, and if these include screening for substance use or other psychiatric comorbidities, (2) provides recommendations for current best practices, and (3) suggests future directions for research and practice aimed at identifying and reducing substance-related IPV. A narrative literature review examined studies investigating IPV screening and referral programs in clinics. Selected studies were reviewed for: (1) effectiveness, (2) barriers to implementation and sustainability, and (3) responsivity to psychiatric comorbidity, including substance use and substance use disorders (SUD). Findings suggest that effective IPV screening and referral programs have been developed, but disparities in IPV screening exist and many programs only screen for IPV victimization. Barriers to the implementation and sustainability of IPV screening programs include lack of ongoing provider training, funding or institutional support, and direct connection to referral services. Further, many IPV screening programs lack assessment of and referral for comorbid psychiatric conditions, including substance use, and tend not to be routinely implemented in SUD clinics. Additional systematic work is needed to develop universal and comprehensive screening and referral programs for substance-related IPV and address issues of long-term sustainability, particularly within SUD treatment settings.

Newborn Screening for Congenital Cytomegalovirus in Canada

What Is the Issue Congenital cytomegalovirus (cCMV) infection is a leading cause of childhood hearing loss. It is estimated that 85% to 90% of newborns infected with cCMV will not show any symptoms at birth. Of those newborns with cCMV infection who are asymptomatic at birth, 10% to 15% will go on to develop long-term symptoms, including vision loss, hearing loss, and developmental delays. What Did We Do? This brief provides a summary about newborn screening for cCMV in Canada, including whether screening is available for cCMV in each province and territory, and if so, whether screening is universal or targeted using publicly available information. What Did We Find? Currently in Canada, 4 provinces (Alberta, Saskatchewan, Manitoba, Ontario) have or are implementing universal newborn screening for cCMV. Three provinces (British Columbia, New Brunswick, Nova Scotia) have province-wide targeted screening programs that offer cCMV testing to newborns who fail newborn hearing tests or who have suspected cCMV as identified by a clinician. Current clinical guidance and practice remain mixed on whether targeted or universal newborn screening is recommended, with each having a different distribution of benefits and harms. cCMV infections can be detected using blood, urine, or saliva tests. Most universal newborn screening programs use dried blood spot tests, which are likely to produce false-negative results; saliva tests have a lower number of false-negative results but can result in a higher number of false-positives. Some programs recommend additional testing using a different method (either saliva or urine) after an initial positive test as a validation. What Does This Mean? As both universal and targeted newborn screening programs have been adopted by several jurisdictions in Canada, there is wide recognition that cCMV infection is a serious health issue and that early detection is important. Moreover, there is an opportunity to generate data and evidence about test performance and program impact over time that could support future decision-making. As evidence and new test and treatment options become available, such data will help to inform the type of newborn screening approach used for cCMV.

Positive impacts of universal newborn screening on the outcome of children with sickle cell disease in the province of Quebec: A retrospective cohort study.

A universal newborn screening program for sickle cell disease (uNS-SCD) was implemented in the province of Québec (Qc) in November 2013, close in time to the recommendation of early initiation of hydroxyurea (HU) therapy for children. This retrospective cohort study evaluated the impact of such a program on children first seen between January 2000 and December 2019. Cohorts pre-SCD-uNS in Qc (pre-QcNS) (n=253) and post-QcNS (n=157) for patients seen prior to or after Nov 2013 were compared. Kaplan-Meier curves, Poisson regression, and logistic regressions were used for statistical analysis, using Software R version 4.2.1. Median age at first visit decreased significantly from 14.4 [interquartile range: 2.4-72.0] to 1.2 months [1.2-57.6] (p<0.001). The percentage of children born in Qc undiagnosed at birth and referred after a first SCD-related complication dropped from 42.6% to 0.0% (p<0.0001). The median age of HU introduction for patients with SS/Sβ°-thalassemia decreased from 56.4 [31.2-96.0] to 9.0 months post-QcNS [8.0-12.1] (p<0.001). Event-free survival improved significantly for any type of hospitalization as well as for vaso-occlusive crisis (VOC) (140-257 days (p<0.001) and 1320 vs. 573 days (p<0.002), respectively), resulting in a reduction from 2 [interquartile range: 1.0-3.0] to 1.0 hospitalizations/patient-year [0.6-1.4] (p<0.001). Children with SS/Sβ°-thalassemia referred post-QcNS also had fewer emergency department visits for VOC (RR: 0.69, 95% confidence interval: 0.54-0.88). The Universal NS program allows early detection and referral of children with SCD to comprehensive care centers. Earlier access ensures that children benefit from essential preventive interventions, reducing disease burden. This cohort study highlights that uNS-SCD is an essential public health measure.

From diagnosis to management: current perspectives on congenital cytomegalovirus infection.

Congenital CMV (cCMV) infection is the most common infection of newborns and a leading cause of hearing loss and other neurologic disabilities in children. This review focuses on the diagnosis, presentation and management of cCMV infection. Cytomegalovirus is one of the leading causes of sensorineural hearing loss in children. It also leads to neurodevelopmental disabilities and learning problems throughout childhood in both symptomatic and asymptomatic newborns. Urine and saliva PCR testing are the preferred methods of testing newborn infants for cCMV. In recent years, newborn-targeted and universal screening programs have been implemented in several states and major medical centers with the goal of identifying infected infants at risk for hearing loss. Treatment for infants diagnosed with cCMV infection should be limited to those who are moderately to severely symptomatic at birth with cCMV infection, though treatment may be beneficial for children who are asymptomatic with isolated sensorineural hearing loss. As more children with cCMV are being identified through newborn screening, understanding the clinical presentation and sequelae is important for appropriate management of children with cCMV.

Outcomes of a universal germline screening program in a community urology practice.

The role of germline genetic testing in urologic oncology has expanded in recent years. However, implementation of genetic testing in community practices remains a challenge, often due to limited access to qualified genetics trained providers. In this study, we report outcomes of a universal germline screening program in a community urology practice. Between November 2021 and September 2022, all patients referred for urology clinic visits at Frederick Health (Frederick, MD, USA) were provided an online genetics screening questionnaire prior to the visit. Responses were compared against National Comprehensive Cancer Network (NCCN) criteria for germline testing. Those who met criteria were provided educational materials at the end of the questionnaire, and then counseled by a trained urologic oncologist (HC) in the clinic or referred to a genetic counselor prior to testing. Testing was performed with a 36-gene pan-cancer panel (CancerNext) or a 14-gene targeted prostate cancer panel (ProstateNext), with or without additional RNA analysis (RNAinsight) (Ambry Genetics, CA, USA). Demographic and clinical parameters, as well as genetic testing results, were retrospectively collected under IRB approval. In the study period, 765 patients were seen over 1370 clinic visits. Of these, 505 patients (66.0%) completed the screening questionnaire. The majority were completed via email (54.5%) with the remainder (45.5%) via text message. Of the patients who completed screening, 125/505 (24.7%) met NCCN criteria for germline testing. 58/125 patients (46.4%) who met criteria underwent germline testing, of whom 5/58 (8.6%) had distinct pathogenic mutations identified. These included actionable mutations in BRCA1, BRCA2, and CHEK2, as well as an additional pathogenic mutation in NBN. Variants of unknown significance were identified in 8/58 patients (13.8%) in 11 total genes. Challenges to implementation of this program included meeting institutional requirements for genetic testing consent, facilitating specimen collection in clinic, and integration of results into the electronic health record. Genetic risk assessment for high-risk individuals is feasible as part of a universal screening program in a community urology practice. Approximately 8% of tested patients were found to have pathogenic germline mutations, which is consistent with contemporary tertiary referral cohorts.

Integrated care of diabetes during pregnancy: a Qatari nationwide cohort

Diabetes in pregnancy (DIP) is associated with adverse fetal and maternal outcomes. DIP is classified as either pre-existing or new-onset diabetes mellitus (DM), which is classified into gestational DM (GDM) and newly detected type 2 (N-T2D). All pregnant women in Qatar who are not known to have pre-existing DM are offered screening for DIP during the first antenatal care visit and after 24 weeks gestation. The study aims to report the DIP screening rates, the prevalence of DIP, and the impact of the universal screening program on adverse pregnancy outcomes. This retrospective study included all women who gave birth in Hamad Medical Corporation (HMC) hospitals between 2019 and 2022. New-onset DIP was defined using the WHO-2013 criteria. The primary outcomes were the screening rates and the prevalence of DIP in Qatar. The secondary outcomes were the difference in preterm delivery, C-section, macrosomia, large for gestational age (LGA), small for gestational age (SGA), and intra-uterine fetal death (IUFD) between women with or without GDM. We included 94,422 women who gave birth to 96,017 neonates (85.7%) out of 112,080 neonates born nationwide. The number of women with pre-existing diabetes was 2496 women. Of 91,926 eligible women, 77,372 (84.2%) were screened for DIP. The prevalence of GDM is 31.6% (95% CI: 31.3-32.0%); N-T2D is 2.2% (95% CI: 2.1-2.3%), and pre-existing Type 2 DM and Type 1 DM was 2.6% (95% CI: 0.8-3.0%) and 0.2% (0.19-0.25), respectively. Compared to the non-GDM group, women with GDM were older (30.8±5.3 versus 29.7±5.2 years, p<0.001). After adjusting for age, women with GDM had lower risk of IUFD and SGA (0.63 [95% CI 0.50-0.80, p<0.001], 0.88 [95% CI 0.84-0.92, p<0.001] respectively) but higher risk of C-section and LFD (1.07 [95% CI 1.04-1.10, p<0.001], 1.09 [95% CI 1.01-1.15, p=0.01], respectively, compared to women with no-GDM. Of the women eligible for screening, 84.2% were screened by the DIP program in Qatar. The prevalence of DIP in Qatar is 36.9%. Integrated care is critical for the screening and management of diabetes during pregnancy. The authors did not receive any funding for this project.

Abstract MP56: Screening for Familial Hypercholesterolemia: School Based Programs May Be Best Alternative

Introduction: Familial Hypercholesterolemia (FH) is an autosomal dominant condition characterized by elevated cholesterol and premature development of cardiovascular (CV) disease affecting 1/200 - 1/500 individuals. Only 10% of the affected population in the United States have been identified and treated compared to 50-70% in Scandinavian countries identified through school-based or universal screening programs. Hypothesis Statement: School based programs are the best mechanism for FH screening. Methods: The Healthy Hearts and Minds Program (HHM) through UCHealth performs biometric screenings on 5th, 7th, and 10th grade students in Northern Colorado. HHM tested 10,991 5th grade students (9/2017 - 5/2022) and identified 424 students with total cholesterol levels ≥200 mg/dL (range 200-302). A buccal smear test (APOB, LDLR, PCSK9) was performed on 99 individuals with the highest total cholesterol levels to identify genetic status. A binomial logistic regression model was used for analysis. Results: Of the 99 students, six tested positive (50% male, 10.3 years, 22.8 BMI) for FH with five (40% male, 11.3 years, 17.3 BMI.) reporting a variant of indeterminate significance. A sigmoidal association between total cholesterol and predicted chance of FH was identified with the inflection point at ~270 mg/dL. Conclusions: Comprehensive school based programs are the most effective and equitable means of identifying this genetic based disease and should be supported in a collaborative manner with health care systems, industry and the community. With availability to all students, diversity, equity, and inclusion concerns are addressed and provide at risk populations with personalized health information. The results from this study suggest a school-based screening program can be effective at identifying students most at risk for FH. These results further define the relation between total cholesterol and predicted chance of FH for a school-aged population where 245 mg/dL indicates a 10.3% of testing positive for FH whereas 275 mg/dL has a 54.8% chance. Additionally, the multiplier effect documented through cascade FH testing enhances the benefit of the information to other family members, as the autosomal dominant pattern insures that 50% of members will be at risk. The individual benefit of identifying FH early is the treatability of this condition. Early use of lipid lowering agents can make the CV disease risk equal to the general population. If left untreated, CV disease occurs approximately 10 years earlier which results in increased mortality and disability, along with increased health care costs. Therefore, if elevated cholesterol is present in school children, genetic testing is warranted and treatment considered by age 8-10 years, especially if signs of abnormal vascular plaquing is identified.

Late-onset, progressive sensorineural hearing loss in the paediatric population: a systematic review.

To review possible risk factors for permanent delayed-onset, progressive sensorineural hearing loss (SNHL) in the paediatric population to recommend follow-up protocols for early detection. PRISMA-compliant systematic review was performed, including observational studies on the paediatric population up to 16years old who have passed the newborn hearing screening programme (NHSP), investigating the development of late-onset, progressive SNHL. Electronic searches were performed through Medline, Embase, Cochrane, and Emcare. 37 studies were included. 21 showed an association between late-onset SNHL and congenital cytomegalovirus (cCMV) infection (age at hearing loss diagnosis 0.75 to 204months, mean 45.6 ± 43.9), while 16 between late-onset SNHL and other congenital or perinatal factors, namely Neonatal Intensive Care Unit (NICU) stay, prematurity, neonatal respiratory failure, mechanical ventilation, extracorporeal membrane oxygenation (ECMO) support, hypocapnia, hypoxia, alkalosis, seizure activity, congenital diaphragmatic hernia (CDH), inner ear malformation, and gene mutations (age at hearing loss diagnosis 2.5 to 156months, mean 38.7 ± 40.7). cCMV infection may cause late-onset SNHL, which can be missed on standard NHSP. There is, therefore, evidence to support universal screening programmes to enable detection in even asymptomatic neonates. Ongoing audiological follow-up for all children with cCMV is advisable, to enable timely treatment. In the paediatric population presenting conditions such as NICU stay > 5days, prematurity ≤ 34weeks gestation, severe neonatal respiratory failure, mechanical ventilation, ECMO support, and CDH surgery, an audiological follow-up from 3months of age up to at least 3-4years of age, and at least annually, should be recommended.

Randomized trial of screening for preterm birth in low-risk women - the preterm birth screening study

Preterm birth is a major cause of perinatal morbidity and mortality. It is unclear whether the introduction of a universal transvaginal ultrasound cervical length screening program in women at low risk for preterm delivery is associated with a reduction in the frequency of preterm birth. To test the hypothesis that the introduction of a midtrimester universal transvaginal ultrasound cervical length screening program in asymptomatic singleton pregnancies without prior preterm delivery would reduce the rate of preterm birth at <37 weeks of gestation. This study was a multicenter nonblinded randomized trial of screening of asymptomatic singleton pregnancies without prior spontaneous preterm birth, who were randomized to either cervical length screening program (ie, intervention group) or no screening (ie, control group). Participants were randomized at the time of their routine anatomy scan between 18 0/7 and 23 6/7 weeks of gestation. Women randomized in the screening group received cervical length measurement. Those who were found to have cervical length ≤25 mm were offered 200 mg vaginal progesterone daily along with cervical pessary. The primary outcome was preterm birth at <37 weeks. The risk of primary outcome was quantified by the relative risk with 95% confidence interval, and was based on the intention-to-screen principle. A total of 1334 asymptomatic women with singleton pregnancies and without prior preterm birth, were included in the trial. Out of the 675 women randomized in the transvaginal ultrasound cervical length screening group, 13 (1.9%) were found to have transvaginal ultrasound cervical length ≤25 mm during the screening. Preterm birth at <37 weeks of gestation occurred in 48 women in the transvaginal ultrasound cervical length screening group (7.5%), and 54 women in the control group (8.7%) (relative risk, 0.86; 95% confidence interval, 0.59-1.25). Women randomized in the transvaginal ultrasound cervical length screening group had no significant differences in the incidence of preterm birth at less than 34, 32, 30, 28, and 24 weeks of gestation. The introduction of a universal transvaginal ultrasound cervical length screening program at 18 0/6 to 23 6/7 weeks of gestation in singleton pregnancies without prior spontaneous preterm birth, with treatment for those with cervical length ≤25 mm, did not result in significant lower incidence of preterm delivery than the incidence without the screening program.

Impact of Cytomegalovirus (CMV) on an Academic Pediatric Infectious Diseases Outpatient Clinic Referral Population, 2005-2020: Will the Advent of Universal Congenital CMV (cCMV) Screening Change Clinical Practice Referral Patterns?

Cytomegalovirus (CMV) infections exert a substantial impact on the practice of pediatric infectious diseases. Although most infections in children are minimally symptomatic, several populations are at risk for CMV-associated disease, including immunosuppressed children, children with HIV infection, and, most significantly, children with congenital CMV (cCMV) infection. In spite of the ubiquitous nature of CMV infection, few studies have quantified the impact of CMV-associated care in a pediatric outpatient clinic setting. We evaluated the impact of CMV on clinical care in an outpatient clinic setting over a fifteen-year period at the University of Minnesota (UMN) Masonic Children's Hospital Pediatric Infectious Diseases (PID) Clinic. A retrospective review of clinic appointments identified 253 unique patients specifically evaluated over this time period for consideration of CMV infection. Of these, 242 were pediatric patients. The majority of the pediatric patients evaluated in the PID clinic were referred for either confirmed or suspected cCMV infection, including children referred for consideration of CMV as a potential reason for a failed newborn hearing screen (NHS) and/or for evaluation of CMV as a possible etiology for documented hearing loss. In total, 116 of the children evaluated during this time period (48%) were unequivocally confirmed as having cCMV infection, with an additional 37 (15%) presenting with presumed, probable, or possible cCMV infection. A total of 16 (7%) of the pediatric CMV cases were confirmed to be post-natally acquired infections. Of the 253 total patients, 11 (4%) of the referrals were for pregnant patients seeking advice about potential therapies in the setting of a known or suspected primary maternal infection during their pregnancies, with an attendant risk of fetal CMV infection. This overview of the demographics and referral patterns for patients evaluated for known or suspected CMV infections in a tertiary care center outpatient PID clinic will serve as a useful baseline assessment, even as future patterns of outpatient care are highly likely to evolve. We predict that PID clinic referrals for newborns identified by universal cCMV screening programs will result in a shift of the CMV outpatient population to healthier infants with clinically inapparent infections, and care will need to be taken by practitioners not to over-medicalize management for these asymptomatic newborns.

Self-Reported Vision Loss, Health Status, and Social Participation Among Middle-Aged and Older Adults-Evidence From China.

Social participation is crucial for enhancing senior's well-being and promoting their integration into society. Using nationwide data investigated in China, this study explored the association between self-reported visual impairment, health level, and social participation among Chinese middle-aged old adults. It has been found that (a)the probability and frequency of social participation among middle-aged and older adults with self-reported vision loss were significantly lower than those without vision problems; (b)self-reported vision loss was negatively associated with self-rated health and mental health status, and both were positively associated with social participation; and (c)self-rated health and mental health played a mediating role between vision loss and social participation. The findings suggest that under the framework of active aging, universal vision screening programs and rehabilitation plans for the older adults with visual impairment are exceedingly significant to promote their participation in social activities, thereby enhancing their quality of life.

An analysis of Pompe newborn screening data: a new prevalence at birth, insight and discussion.

Primary: Establish a new figure for prevalence at birth for Pompe disease by collecting and analyzing the largest relevant dataset to date and using that result to project population prevalence at birth in a novel way. Secondary: Compare these results to previous analyses to offer a framework for evaluating 'frequency' data that can be applied to other rare, genetic diseases, along with methods to assess quality of estimates.

Prevalence of asymptomatic cytomegalovirus (CMV) infection in newborns in northeast Florida.

Congenital cytomegalovirus (CMV) infection is the leading cause of hearing loss and neurocognitive delay among children. Affected infants may be asymptomatic at birth and even pass their universal hearing screen. Early identification of CMV-infected infants will allow earlier detection, evaluation and management. The prevalence of congenital CMV infection in the developed world varies geographically from 0.6% to 0.7% of all deliveries and certain regions are at higher risk. The prevalence of congenital CMV is unknown for our region. The purpose of this study was to determine the prevalence of CMV infection among the neonatal population at an urban, tertiary hospital in northeast Florida which serves a large population of patients with low socioeconomic status to assess if universal screening program for congenital asymptomatic CMV infection can be determined. The study was submitted and approved by our Institutional Review Board. We tested the urine for CMV infection in 100 asymptomatic newborns (>32 weeks gestational age and >1,750 g weight at the time of delivery) delivered between June 2016 and July 2017. Urine CMV was tested on 100 infants. One infant had a positive urine NAAT for CMV, making the prevalence of congenital CMV infection among asymptomatic newborns in our hospitals' population 1%. CMV prevalence in our setting of an urban, tertiary hospital is relatively consistent with the national average of all congenital CMV infections. A policy of universal screening for congenital CMV may be necessary.

Deep-learning model for prenatal congenital heart disease screening generalizes to community setting and outperforms clinical detection.

Despite nearly universal prenatal ultrasound screening programs, congenital heart defects (CHD) are still missed, which may result in severe morbidity or even death. Deep machine learning (DL) can automate image recognition from ultrasound. The main aim of this study was to assess the performance of a previously developed DL model, trained on images from a tertiary center, using fetal ultrasound images obtained during the second-trimester standard anomaly scan in a low-risk population. A secondary aim was to compare initial screening diagnosis, which made use of live imaging at the point-of-care, with diagnosis by clinicians evaluating only stored images. All pregnancies with isolated severe CHD in the Northwestern region of The Netherlands between 2015 and 2016 with available stored images were evaluated, as well as a sample of normal fetuses' examinations from the same region and time period. We compared the accuracy of the initial clinical diagnosis (made in real time with access to live imaging) with that of the model (which had only stored imaging available) and with the performance of three blinded human experts who had access only to the stored images (like the model). We analyzed performance according to ultrasound study characteristics, such as duration and quality (scored independently by investigators), number of stored images and availability of screening views. A total of 42 normal fetuses and 66 cases of isolated CHD at birth were analyzed. Of the abnormal cases, 31 were missed and 35 were detected at the time of the clinical anatomy scan (sensitivity, 53%). Model sensitivity and specificity were 91% and 78%, respectively. Blinded human experts (n = 3) achieved mean ± SD sensitivity and specificity of 55 ± 10% (range, 47-67%) and 71 ± 13% (range, 57-83%), respectively. There was a statistically significant difference in model correctness according to expert-graded image quality (P = 0.03). The abnormal cases included 19 lesions that the model had not encountered during its training; the model's performance in these cases (16/19 correct) was not statistically significantly different from that for previously encountered lesions (P = 0.41). A previously trained DL algorithm had higher sensitivity than initial clinical assessment in detecting CHD in a cohort in which over 50% of CHD cases were initially missed clinically. Notably, the DL algorithm performed well on community-acquired images in a low-risk population, including lesions to which it had not been exposed previously. Furthermore, when both the model and blinded human experts had access to only stored images and not the full range of images available to a clinician during a live scan, the model outperformed the human experts. Together, these findings support the proposition that use of DL models can improve prenatal detection of CHD. © 2023 International Society of Ultrasound in Obstetrics and Gynecology.