Comprehensive Counseling Research Articles

Comprehensive overview of the current state and impact of cohort studies in newborn screening

Abstract Inborn errors of metabolism (IEM) are a rare and complex group of inherited disorders, typically observed in infants as autosomal recessive or, less commonly, as X-linked recessive conditions. Newborn screening (NBS) for IEMs can significantly improve prognosis and quality of life through early diagnosis and intervention, marking a significant public health achievement. NBS programs vary by country, but generally include tests for a range of metabolic errors, endocrine disorders, primary immunodeficiency disorders, congenital deafness, congenital heart defects, and cystic fibrosis. Integrating mass spectrometry (MS/MS), genetic sequencing, and emerging technologies such as next-generation sequencing into NBS programs represents a substantial advancement in the field of healthcare. These technologies enable early detection, intervention, and the possibility of personalized treatments through gene therapies. Such advancements are poised to shape the future of NBS, potentially enhancing healthcare outcomes for newborns on a global scale. Neonatal screening is the most well-known and widely implemented proactive and preventative pediatric public health initiative worldwide. It encompasses a comprehensive education system, screening, diagnostic confirmation, management, follow-up, and counseling. This article reviews recent advances in newborn metabolic screening, drawing on the results of various clinical trials and pilot studies.

Rapid genomic testing in critically ill pediatric patients: Genetic counseling lessons from a national program

Genetic counselors (GCs) face unique challenges in the acute care setting. Acute care environments—such as neonatal and pediatric intensive care units—are characterized by urgency, complexity, and rapid decision making. These settings require GCs to navigate a delicate balance between addressing the immediate clinical needs of patients and providing comprehensive genetic information to families, while demanding adaptation of existing skills for practice.Rapid genomic testing (rGT) is increasingly becoming standard of care in acute care. GCs are well placed to support families through the rGT process. Despite this, there is a lack of consistency in the provision of comprehensive acute care genetic counseling globally and a subsequent need for professional guidance in this area.The Acute Care Genomics study piloted a national approach to delivering rGT for infants and children admitted to intensive care units in Australia with suspected genetic conditions between 2018 and 2022. GCs from across Australia were involved in both pre- and post-test counseling for the families of these critically unwell children. Based on our collective experience of delivering this national rGT program, this article provides a discussion of common challenges for health professionals new to delivering rGT in intensive care. We share some practical solutions and make recommendations for supporting families in this area of practice.

A misleading case of Müllerian anomaly: fibroid degeneration and growth involving nonfunctional, noncommunicating rudimentary horn

ObjectiveTo report a rare, misleading fibroid degeneration involving a non-functional, non-communicating horn in a woman with a unicornuate uterus. While the presence of a functional rudimentary horn may lead to signs and symptoms that recommend its removal, non-functional cases are rarely reported, and due to their apparent functional inactivity, the need for their removal has never been reported. No previous report showed the possibility of a degenerative process in a non-functional rudimentary horn causing patient discomfort. DesignThis is a step-by-step narrated video showing a unique case of fibroid degeneration and growth of a non-functional, non-communicating rudimentary horn in a unicornuate uterus (ASRM classification 2021) and its surgical management. SettingUniversity Academic Hospital ‘‘A.O.U. delle Marche – Università Politecnica delle Marche” Ancona, Italy. SubjectA 48-year-old Caucasian nulliparous premenopausal woman was referred to our institution because of abdominal pain and an enlarging adnexal mass. Her personal history showed primary infertility with a previous diagnosis of unicornuate uterus. Given the possibility of ectopic ureters in these occurrences, a complete computed tomography scan was performed, and no genitourinary alterations were found. Pre-operative imaging (ultrasound evaluation, computed tomography, and magnetic resonance) provided a provisional diagnosis of a suspicious ovarian fibroma. InterventionsConsidering the patient’s age, lack of desire for pregnancy, and volumetric increase of the adnexal mass, a laparoscopic intervention to perform mass removal and prophylactic bilateral salpingectomy was planned. The patient was counseled about the low risk of an underlying malignant transformation. Therefore, the decision to remove the intact mass via a mini-laparotomy at the end of the surgery was shared.Once the abdominal cavity was entered, the right unicornuate uterus was found in anatomical continuity with the ipsilateral broad ligament, fallopian tube, and ovary. These structures were wholly attached to the right pelvic wall.On the other side, cranially compared to the right hemi-uterus, a roundish myoma-like mass was detected in direct connection with the left broad ligament, fallopian tube, and ovary.In light of a changed intraoperative finding, the amputation of the left rudimentary horn and prophylactic bilateral salpingectomy were performed. Main outcome measuresShowing the fibroid degeneration and growth of a non-functional, non-communicating rudimentary horn in a unicornuate uterus (ASRM classification 2021) treated laparoscopically. ResultsLaparoscopic removal of the uterine horn was successful, and no intra- and postoperative complications occurred. The patient was in good health at the six-month follow-up visit. The histopathological examination confirmed the fibroid degeneration and the absence of endometrium. ConclusionThe lack of symptomatic cases of rudimentary non-functional horns reported in the literature led gynecologists to consider them a silent Mullerian anomaly. This unique case demonstrates that even non-functional rudimentary horns can undergo symptomatic transformation processes requiring surgery. This information may be helpful for more comprehensive counseling of women and for considering the possibility of this occurrence in the diagnostic work-up of misleading Müllerian anomalies. With this in mind, surgical treatment can also be better planned as the technical aspects change compared to what is expected for an adnexal pathology.

Developing Effective Counseling Strategies for Visually Impaired Students: Personal, Social, Career, and Academic Perspectives

This study examines the guidance and counseling needs of visually impaired students, emphasizing the importance of tailored programs to address their unique challenges. Using a qualitative approach complemented by quantitative data collection, the research surveyed visually impaired students at SLB – A Karya Murni Medan. The findings reveal that personal needs, such as independent daily living activities, are the highest priority, followed by career needs, including career guidance and decision-making skills. Social needs, involving communication and social interaction, and academic needs, covering fundamental educational skills, were also significant. The analysis underscores the necessity of a comprehensive counseling program designed to support visually impaired students in achieving personal independence, career readiness, social skills development, and academic success. This program should incorporate a thorough understanding of students' needs, clear objectives, and robust implementation strategies to ensure their overall well-being and development.

Improving Obesity Outcomes in an Academic Clinic: A Quality Improvement Study

Introduction: Obesity is a chronic disease that affects more than 40% of the population in the United States. The prevalence of severe obesity doubled in the past two decades. Primary care providers are usually the first to screen patients for obesity. According to a 2018 study. Only 55% of adults with obesity were reported to have received the diagnosis of obesity and less than a third of the patients followed up for an obesity-specific visit. The management of obesity is multifactorial with lifestyle modifications and pharmacological and psychological therapies. In our academic clinic, there was a gap in comprehensive satisfactory obesity counseling, which addresses lifestyle modifications and adjunctive pharmacological therapies. Addressing this gap with an obesity-specific visit helps clinicians to discuss available options to manage obesity. Improvement in body weight is linked with improved control of hypertension, diabetes, and heart disease leading to improved health outcomes. Aim: To improve obesity counseling rates and usage of standardized obesity templates in an academic clinic by 25% in 3 months. Method: We used the IHI model of improvement using the plan-do-study-act framework to test changes on a small scale and guide the quality improvement study. To better address our aim, we divided our QI project into 2 cycles. For PDSA-1, a thorough chart search for the last 3 months was done to calculate a baseline obesity counseling rate. A root-cause analysis was completed with multi-disciplinary input from faculty, clinic staff, and residents, and several existing barriers that preclude satisfactory obesity counseling were identified. Proposed interventions corresponding to each root cause were plotted on an impact effort matrix. Interventions with the least effort and the most impact were selected as proposed solutions. These included creating a short education session on obesity management and creating an obesity counseling template. Post-intervention, the obesity counseling rates and use of the template were recorded on a run chart. For PDSA-2, we introduced an obesity assessment and plan (A/P) template, with the goal to incorporate all aspects of obesity management, i.e., lifestyle modification, diet, exercise, and screening for disease related co-morbidities. Results: Satisfactory obesity counseling prior to intervention was 32%. The first PDSA cycle post-intervention showed an improvement in the obesity counseling rates to 56%. About 20% of the clinic notes for the counseled patients used the proposed template. About 8% of the counseled patients agreed to a separate obesity-specific visit. The second PDSA cycle showed 20.1% usage of the standardized A/P plan template. In the group that the template was used, there was 63.6% reduction in BMI; compared to 39.4% BMI reduction in group without template usage. (OR= 2.34, p=0.034. Next steps: We noted an overall improvement in the obesity counseling rates after our interventions. However, we noticed that the A/P template usage did not meet our goal of 25% usage. We will conduct multidisciplinary team meetings to understand measures that can be undertaken to improve usage of A/P template. Patients will also be encouraged to have an obesity-specific visit.

MENEROKA PENGETAHUAN KAUNSELOR DI SEKOLAH BERKAITAN KAUNSELING ISLAM

This study aims to explore the knowledge of Muslim school counselors regarding Islamic counseling. A qualitative research design based on a multiple case study method was employed, with a sample of 19 Muslim counselors selected using purposive sampling. Data were collected through semi-structured interviews. The findings reveal that counselors possess clear knowledge about Islamic counseling, encompassing two main themes: "The counseling process based on human nature and oriented towards the hereafter" and "Modification of Western counseling." Within the first theme, counselors emphasize the importance of understanding human nature and the concepts of al-Nafs, al-Qalb, al-Aql, and al-Ruh. They adhere to the goal of guiding individuals back to their innate nature (fitrah) and utilizing the Quran and Sunnah as the primary sources of guidance. Moreover, counselors perceive their role as preachers who guide clients in maintaining religious practices and noble character. The second theme illustrates counselors' integration of Islamic elements into Western counseling processes, where Western theories serve as the framework while Islamic elements such as Quranic verses, hadith, and moral values are incorporated as complementary components. This study provides an overview of counselors' awareness of the importance of applying Islamic values in counseling sessions and their efforts to infuse Islamic elements into the counseling process to align with clients' needs. However, counselors must continually enhance their knowledge and skills in Islamic counseling through ongoing training and education, as well as the development of more comprehensive Islamic counseling models and modules to further strengthen their roles.

Effective breastfeeding techniques and associated factors among lactating women in Ethiopia: A systematic review and meta-analysis

Background Effective breastfeeding is crucial for maternal and child health, particularly in low-resource settings like Ethiopia. It encompasses a range of skills and strategies, including proper latch, positioning, and frequency of feeding. These techniques not only ensure sufficient milk transfer but also foster bonding between mother and child, enhancing the breastfeeding experience. To effectively prioritize maternal and child health, it is crucial to comprehensively understand the prevalence and factors influencing effective breastfeeding nationwide. Therefore, this study aimed to provide a pooled prevalence of effective breastfeeding techniques and associated factors among lactating mothers in Ethiopia. Methods The study followed the Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) checklist, focusing on studies conducted in Ethiopia. We identified eight relevant studies through Google Scholar, Medline, PubMed, Scopus, and the Cochrane Library. Analysis was conducted using STATA version 11, and systematic data extraction employed a checklist to extract relevant data. I2 tests and the Cochrane Q test statistic were used to evaluate heterogeneity. To explore potential publication bias, Egger’s weighted regression, Begg’s test, and a funnel plot were utilized. Results We identified a total of 955 research articles. Eight studies meeting the eligibility criteria were incorporated into this meta-analysis and systematic review. The pooled prevalence of effective breastfeeding techniques was 41.99% [95% CI 32.16–51.81]. According to the results of the current meta-analysis, effective breastfeeding techniques were significantly associated with antenatal care follow-up [OR = 1.75, 95% CI 1.10–2.78], maternal educational status [OR = 2.70, 95% CI 1.55–4.71], breastfeeding technique counseling [OR = 2.02, 95% CI 1.41–2.90], the absence of breast problems [OR = 2.26, 95% CI 1.49–3.43], breastfeeding experience [OR = 1.98, 95% CI 1.14–3.46], and immediate skin-to-skin contact [OR = 2.32, 95% CI 1.56–3.44]. Conclusion Our findings highlight the vital role of various factors in shaping effective breastfeeding. Implications To improve practices and health outcomes, we recommend targeted interventions, such as strengthening antenatal care, implementing maternal education, and providing comprehensive breastfeeding counseling. Proactively addressing breast problems and prioritizing immediate skin-to-skin contact is crucial for successful breastfeeding.

Vaccination in Patients with Liver Cirrhosis: A Neglected Topic.

Patients with liver cirrhosis, due to their weakened innate and adaptive immunity, are more prone to frequent and severe vaccine-preventable infections. Moreover, impaired adaptive immunity results in a limited antibody response to vaccines. Despite this suboptimal antibody response, vaccines have proven to be very effective in reducing severe outcomes and deaths in these patients. In the Western world, regulatory authorities and scientific liver societies (e.g., AASLD and EASL) have recommended vaccinations for cirrhotic patients. However, despite these strong recommendations, vaccine coverage remains suboptimal. Improving vaccine effectiveness and safety information, providing comprehensive counseling to patients, fact-checking to combat fake news and disinformation and removing barriers to vaccination for disadvantaged individuals may help overcome the low coverage rate. In view of this, vaccines should be administered early in the course of chronic liver diseases, as their efficacy declines with the increasing severity of the disease.

A Comprehensive Review of the Endometrial Receptivity Array in Euploid Embryo Transfer Cycles.

The Endometrial Receptivity Array (ERA) is a revolutionary molecular diagnostic tool that determines the optimal timing for embryo transfer by analyzing the gene expression profile of endometrial tissue. This comprehensive review examines the significance and application of ERA in euploid embryo transfer cycles, where the implantation of embryos with the correct number of chromosomes is critical for achieving successful pregnancy outcomes. This review underscores its role in enhancing implantation rates and reducing pregnancy loss by assessing the evolution, methodology, clinical applications, efficacy, and challenges associated with ERA. Key findings highlight ERA's superior accuracy in identifying the window of implantation compared to traditional methods, resulting in improved clinical outcomes in assisted reproductive technology (ART) cycles. Despite its benefits, the review acknowledges challenges such as cost, accessibility, and the need for standardization. Recommendations for clinical practice emphasize the integration of ERA into routine ART protocols, comprehensive patient counseling, and the importance of multidisciplinary collaboration. The review outlines promising prospects, including technological advancements to make ERA more cost-effective, the development of refined gene expression profiles, and the potential integration with other emerging ART technologies. Further research directions include long-term studies on the outcomes of ERA-guided pregnancies and exploring its application in cases of recurrent implantation failure and unexplained infertility. Overall, ERA represents a significant advancement in reproductive medicine, offering a personalized approach to embryo transfer timing that can significantly improve the success rates of euploid embryo transfers.

‘I take the drugs… to make the sickness to move out of me’: key populations’ and service provider perspectives about facilitators and barriers to ART adherence and retention in care in Nigeria

BackgroundAdherence to antiretroviral therapy (ART) has individual and public health benefits and is critical to improving life expectancy, achieving viral suppression, and reducing the risk of HIV transmission. This qualitative study explored the experience of receiving care as well as perceived facilitators and barriers of treatment initiation, retention in ART care, and adherence to treatment.MethodsIn-depth interviews were conducted among 28 men who have sex with men (MSM) and female sex workers (FSWs) receiving ART services in Lagos and Benue states. Key informant interviews were also conducted among 16 service providers engaged in counselling, clinical care, and ART treatment for MSM and FSWs. The Social Ecology Model guided the exploration of perceived barriers and facilitators of treatment initiation, retention in ART care and adherence to treatment. Qualitative data analysis was managed using NVIVO 11 software and themes were analysed using thematic analysis.ResultsWe found that the key barriers to ART adherence were low motivation to comply with medication regimen, work commitments, socioeconomic factors, stigma, negative provider attitude and distance to health facilities. Facilitators of adherence identified include the desire to live a productive life, strong family support and participation in support group programs. Comprehensive adherence counselling, support group programs and an effective follow-up system were factors identified by service providers as key to facilitating adherence.ConclusionTo be effective, ART programs must address the unique challenges key populations face in accessing treatment and achieving optimal adherence regarding establishing a strong support system and follow-up. Community level interventions that support a stigma-free environment are critical to sustaining engagement in care.

Glimpsing beyond the glitter: Navigating the depths of oral piercings

This review article delves into the multifaceted realm of oral piercings, exploring their implications for oral health and beyond. We navigate through the motivations driving individuals to adorn their mouths with piercings, ranging from self-expression to cultural identity. Despite their allure, oral piercings harbor a myriad of risks, including infection, trauma, and dental complications, which demand careful consideration. We dissect the intricate interplay between piercings and oral anatomy, highlighting their potential to disrupt oral hygiene practices, erode tooth enamel, and exacerbate periodontal disease. Moreover, we scrutinize the psychological and sociocultural dimensions of piercings, unraveling their impact on self-image, social perceptions, and interpersonal dynamics. Moving forward, we chart a course for managing and preventing complications associated with oral piercings, advocating for comprehensive counseling, education, and preventive strategies. By fostering collaboration between healthcare providers, piercers, and policymakers, we aim to promote safer and more inclusive practices that prioritize the health and well-being of individuals with piercings. Finally, we glimpse into the future of oral piercings, envisioning emerging trends and innovations that promise to redefine the landscape of piercing culture. Through this comprehensive exploration, we endeavor to illuminate the complexities of oral piercings, empowering individuals to make informed decisions about their oral health and self-expression.

Assessing the Reasons and Satisfaction of Teacher Education Graduates in Choosing a Non-Teaching Career: Towards Minimizing Irrelevant Employment Through an Effective School Program

The purpose of the study is to determine what quantitative aspects need further explanation in choosing a non-teaching job by education graduates in terms of; (1) non-commitment to the teaching profession, (2) circumstantial influence (3) competitive income and (4) support for passion and growth. Also, it seeks to determine the level of career satisfaction in terms of (1) job security, (2) compensation, (3) interpersonal relationship and (4) organization culture. Results of the study shall contribute in the development of an effective school program in order to minimize irrelevant employment among teacher education graduates, and eventually stay in the teaching profession. Employing purposive sampling technique, the participants of the study are 12 teacher education graduates of Rizal Memorial Colleges Inc. The study utilized explanatory sequential mixed method design where a two-phase stage was employed in collecting data. In the quantitative phase, the researcher used a survey questionnaire in determining the reasons of the teacher education graduates in choosing a non-teaching job as well as their corresponding career satisfaction. In the qualitative phase, the researcher used in-depth interviews in gathering data to identify what school programs to be undertaken in order to minimize irrelevant employment among teacher education graduates and eventually stay in the teaching profession. Results revealed that competitive salary (M=3.51) and support for passion and growth (M=3.49) were observed to be the most reasons why the participants chose a non-teaching career. In terms of satisfaction, the participants indicated high satisfaction in their non-teaching career on job security (M=3.42) and compensation (M=3.59). More so, it was found that the school program to minimize irrelevant employment among teacher education graduates, and eventually stay in the teaching profession, revealed four major themes namely: (1) commitment, (2) patience, (3) contentment and (4) openness to change. This study suggests that educational institutions should prioritize initiatives aimed at fostering commitment among education graduates towards the teaching profession. This can involve providing comprehensive career guidance and counseling services to help graduates understand the value and opportunities within teaching.

Interplay between male gonadal function and overall male health.

The process-of-male reproduction is intricate, and various medical conditions-have the potential to disrupt spermatogenesis. Moreover, infertility in males can serve as an indicator of-potential future health issue. Numerous conditions with systemic implications have been identified, encompassing genetic factors (such as Klinefelter Syndrome), obesity, psychological stress, environmental factors, and others. Consequently, infertility assessment-presents an opportunity for comprehensive health counseling, extending-beyond discussions about reproductive goals. Furthermore, male infertility has been suggested as a harbinger of future health problems, as poor semen quality and a diagnosis of-male infertility are associated with an increased risk of hypogonadism, cardiometabolic disorders, cancer, and even mortality. This review explores the existing-literature on the relationship between systemic illnesses and male fertility, impacting both clinical-outcomes and semen parameters. The majority of the literature analyzed, which compared gonadal function with genetic, chronic, infectious or tumoral diseases, confirm the association between overall male health and infertility.

Anticoagulant Therapy in Pregnant Women with Mechanical Heart Valves: Italian Federation of Centers for Diagnosis and Surveillance of the Antithrombotic Therapies (FCSA) Position Paper.

The management of anticoagulant therapy in pregnant women with mechanical heart valves (MHVs) is difficult and often challenging even for clinicians experienced in the field. These pregnancies, indeed, are burdened with higher rates of complications for both the mother and the fetus, compared to those in women without MHVs. The maternal need for an optimal anticoagulation as provided by vitamin K antagonists is counterbalanced by their teratogen effect on the embryo and fetus. On the other hand, several concerns have been raised about the efficacy of heparins in pregnant women with MHVs, considering the high risk of thrombotic complications in these patients. Therefore, numerous clinical issues about the management of pregnant women with MHVs remain unanswered, such as the selection of the best anticoagulant agent, the optimal anticoagulation levels to be achieved and maintained, and the evaluation of long-term effects for both the mother and the fetus. Based on a comprehensive review of the current literature, the Italian Federation of the Centers for the Diagnosis and the Surveillance of the Antithrombotic Therapies (FCSA) proposes experience-based suggestions and expert opinions. Particularly, this consensus document aims at providing practical guidance for clinicians dealing with pregnant women with MHVs, to optimize maternal and fetal outcomes while guaranteeing adequate anticoagulation. Finally, FCSA highlights the need for the creation of multidisciplinary teams experienced in the management of pregnant women with MHVs during pregnancy, delivery, and postpartum, in order to better deal with such complex clinical issues and provide a comprehensive counseling to these patients.

Fertility and pregnancy outcomes in women with Turner syndrome: A single centre experience.

Many women with Turner syndrome (TS) will consider fertility options and pregnancy. We wished to examine the fertility and pregnancy outcomes in women with TS undergoing oocyte donation (OD) treatment or spontaneous pregnancy in a large single-centre cohort. General population reference dataor data from those with idiopathic premature ovarian insufficiencywere used as comparators. A retrospective single-centre cross-sectional study. Seventy-four women with TS underwent OD treatment with a total of 105 pregnancies, and 31 women with TS had 71 spontaneous conceptions. Fertility outcomes included clinical pregnancy and live birth rate. Pregnancy outcomes included miscarriage rate, prevalence of hypertension, gestational diabetes, lower segment caesarean section (LSCS), small for gestational age (SGA), prematurity and vertical transmission of TS. In those with TS, OD pregnancies were associated with increased rates of LSCS and SGA compared to spontaneous pregnancies; LSCS (OR: 4.19, 95% CI: 1.6-10.8,p = .003) and SGA (OR: 2.92, 95% CI: 1.02-8.38,p = .04). There were no recorded cardiac events but 5 (17.2%) cases of vertical transmissions of TS in daughters were identified. OD in those with TS was associated with a lower live birth rate per cycle started (OR: 0.53, 95% CI: 0.34-0.84,p = .008) and a higher rate of miscarriage compared to women with POI (40% vs. 26.2%,p = .04). We show that pregnancy in women with TS, whether OD or spontaneously conceived, carries obstetric risks, and therefore, women with TS, considering pregnancy, should receive comprehensive pre-pregnancy counselling and optimal obstetric care.

#2524 Impact of sevelamer hydrochloride on fibroblast growth factor-23 levels in patients undergoing hemodialysis

Abstract Background and Aims Serum intact fibroblast growth factor 23 (FGF23) levels are progressively increased in relation to the severity of kidney dysfunction. High serum intact FGF23 concentration is associated with the increased cardiovascular morbidity and mortality in patients with chronic kidney disease (CKD). Clinically, phosphate binders are commonly used to reduce serum intact FGF23 levels in CKD patients by lowering serum phosphate levels. Reduction of high intact FGF23 concentration is a strategy, possibly improving the consequences of CKD. We aimed to Assessing the Impact of Sevelamer Carbonate on Fibroblast Growth Factor-23 Levels. Method This case-control study enrolled 100 pre-existing hemodialysis patients, evenly divided into two groups of 50. Group I received a specific sevelamer hydrochloride (Renagel)® dose (2 tablets every 8 hrs), while Group II served as the control group and did not receive (Renagel)®. All patients received the same modality of dialysis with a consistent dialysate calcium concentration. Additionally, they received comprehensive dietary phosphate counseling as part of the standard dietary education provided to our dialysis patients. The levels of phosphorus, calcium, alkaline phosphatase, and FGF23 were assessed in all individuals at the beginning of the study (baseline) and again following 3 months of sevelamer therapy. Results While baseline FGF-23 levels were not statistically different, a highly significant divergence emerged after 3 months of treatment. The sevelamer group experienced a remarkable 38.4% decrease in FGF-23, compared to a mere 0.5% change in the control group, highlighting the pronounced effect of sevelamer on this key protein. Analysis of PO4 levels revealed a remarkable difference between the groups following treatment. While initial PO4 measurements were statistically comparable, the sevelamer group experienced a significantly larger decrease compared to the control group (p < 0.001). Both baseline and follow-up FGF-23 levels displayed highly statistically significant positive correlations with PO4, PTH, alkaline phosphatase, and hsCRP. Conclusion This study found that non-calcium-based phosphate binders were associated with a substantial reduction in FGF-23 in hemodialysis patients. This finding suggests that utilizing such binders may offer protection against the adverse effects of high FGF-23 levels, which are prevalent in this population.

Enhancing parental understanding of congenital heart disease through personalized prenatal counseling with 3D printed hearts.

In addition to a correct prenatal diagnosis of congenital heart disease (CHD), comprehensive parental counseling is crucial to ensure that parents are well-informed about the condition of the fetus. This study aims to investigate whether there is a significant difference in the information acquired by parents through traditional counseling, utilizing 2-dimensional (2D) illustrations and images, compared to an advanced approach utilizing personalized three-dimensional (3D) printed models of the fetal heart developed from 3D ultrasound imaging. This study, designed as a pilot randomized control trial, enrolled pregnant women with gestational ages greater than 18weeks, whose fetuses were diagnosed with CHD and referred to our center between November, 2020 and June, 2021. Two groups of patients were included in the study. The first group received standard medical counseling with 2D images and illustrations, while the second group underwent advanced counseling with 3D-printed patient-specific heart models. Both groups were then required to complete the same survey in which the knowledge of the CHD was investigated. The 3D models were created from 3D ultrasound imaging and printed using resin materials in both 1:1 and 5:1 scale. A comparison of the scores obtained from the two groups revealed that 3D visualization of the fetus's heart has the potential to increase parental knowledge about CHD and the required surgical procedures. Furthermore, all couples expressed interest in receiving a 1:1 scale model of their baby's heart. Personalized prenatal counseling with 3D-ultrasound-based heart models positively impacts parents' understanding of CHD. The use of 3D models provides a more comprehensive and accessible representation of the condition, contributing to an increased knowledge gain, and potentially helping to support informed decisions regarding their child's care.

Regulatory safeguards needed if preimplantation genetic testing for polygenic risk scores (PGT-P) is permitted in Singapore

Singapore, a highly affluent island city-state located in Southeast Asia, has increasingly leveraged new assisted reproductive technologies (ART) to overcome its dismal fertility rates in recent years. A new frontier...

Exome sequencing in every pregnancy? Results of trio exome sequencing in structurally normal fetuses.

This study aimed to assess the detection rate of clinically significant results of prenatal exome sequencing (pES) in low-risk pregnancies and apparently normal fetuses in non-consanguineous couples. A retrospective analysis of pES conducted at a single center from January 2020 to September 2023 was performed. Genetic counseling was provided, and detailed medical histories were obtained. High-risk pregnancies were excluded due to major ultrasound anomalies, sonographic soft markers, abnormal maternal biochemical screening, or family history suggestive of monogenic diseases as well as cases with pathogenic and likely pathogenic (P/LP) chromosomal microarray results. Exome analysis focused on ∼2100 genes associated with Mendelian genetic disorders. Variant analysis and classification followed the American College of Medical Genetics and Genomics (ACMG) guidelines. Among 1825 pES conducted, 1020 low-risk cases revealed 28 fetuses (2.7%) with potentially clinically significant variants indicating known monogenic diseases, primarily de novo dominant variants (64%). Among these 28 cases, 9 fetuses (0.9%) had the potential for severe phenotypes, including shortened lifespan and intellectual disability, and another 12 had the potential for milder phenotypes. Seven cases were reported with variants of uncertain significance (VUS) that, according to the ACMG criteria, leaned toward LP, constituting 0.7% of the entire cohort. Termination of pregnancy was elected in 13 out of 1020 cases (1.2%) in the cohort, including 7/9 in the severe phenotypes group, 2/12 in the milder phenotype group, and 4/7 in the VUS group. The 2.7% detection rate highlights the significant contribution of pES in low-risk pregnancies. However, it necessitates rigorous analysis, and comprehensive genetic counseling before and after testing.

The cost of genetic diagnosis of suspected hereditary pediatric cataracts with whole-exome sequencing from a middle-income country perspective: a mixed costing analysis

Up to 25% of pediatric cataract cases are inherited. There is sparse information in the literature regarding the cost of whole-exome sequencing (WES) for suspected hereditary pediatric cataracts. Molecular diagnosis of suspected hereditary pediatric cataracts is important for comprehensive genetic counseling. We performed a partial economic evaluation with a mixed costing analysis, using reimbursement data and microcosting approach with a bottom-up technique to estimate the cost of using WES for genetic diagnosis of suspected hereditary pediatric cataracts from the perspective of the Brazilian governmental health care system. One hundred and ten participants from twenty-nine families in Rio de Janeiro (RJ) were included. Costs of consumables, staff and equipment were calculated. Two scenarios were created: (1) The reference scenario included patients from RJ with suspected hereditary pediatric cataracts plus two family members. (2) The alternative scenario considered other genetic diseases, resulting in 5,280 exams per month. Sensitivity analysis was also performed. In the reference scenario, the total cost per exam was 700.09 United States dollars (USD), and in the alternative scenario, the total cost was 559.23 USD. The cost of WES alone was 527.85 USD in the reference scenario and 386.98 USD in the alternative scenario. Sensitivity analysis revealed that the largest costs were associated with consumables in both scenarios. Economic evaluations can help inform policy decisions, especially in middle-income countries such as Brazil.