Comprehensive Counseling Research Articles

The association between patient self-reported experiences with medication discharge counselling and hospital readmissions: a cross-sectional analysis of a population-based survey

ObjectiveTo investigate the association between patient-reported experiences with new medication discharge counselling and readmission to hospital or emergency department (ED) visits within 30 days of discharge. MethodsA retrospective cross-sectional study of patient-reported experiences from 8715 patients who reported being prescribed a new medication at discharge from a public hospital. Completeness of medication counselling was assessed based on (i) explanation of medication purpose, (ii) explanation of medication side effects, (iii) patient involvement in decision to use medication, (iv) provision of contradictory information. Multilevel models were used to estimate self-reported 30-day readmission or ED visit related to care received using adjusted odds ratios (AORs). ResultsPatients who were explained medication purpose were half as likely to report a readmission (AOR 0.54, 95%CI 0.31-0.93) or ED visit (AOR 0.65, 95%CI 0.48-0.87) within 30 days of discharge. Conversely, those who reported receiving contradictory information were more likely to report a readmission (AOR 1.62, 95%CI 1.16-2.26) and ED visit (AOR 1.82, 95%CI 1.41-2.34). ConclusionPatients who reported receiving comprehensive counselling on new medications were less likely to report being readmitted or visiting an ED within 30 days of discharge.

Motivation, responsibilities, and experiences of HIV/AIDS counselors in the Volta Region of Ghana: a descriptive phenomenological study

BackgroundThe provision of professional counseling services for persons living with human immunodeficiency virus (PLHIV) is crucial in the prevention and treatment continuum of the disease. However, for counselors of people infected with the human immunodeficiency virus (HIV) leading to acquired immune deficiency syndrome (AIDS) to give their best, their motivations to become counselors and the challenges they face in their line of duty need to be contextually understood and addressed. We ascertained the roles, motivations, and experiences of HIV/AIDS counselors in the Volta Region of Ghana to inform HIV/AIDS counseling decision-making in the region and the country.MethodsA phenomenological study conducted among sixteen (16) HIV/AIDS counselors from five HIV/AIDS sentinel sites in the Volta region of Ghana, recruited through a purposive sampling approach and interviewed to ascertain their HIV/AIDS counseling-related experiences. The data were thematically analyzed using the Atlas. ti software, and sub-themes supported with verbatim quotes.ResultsFive motives for becoming an HIV/AIDS counselor were found. These include being randomly assigned to the unit, developing interest in the job, because of the status of a relative, witnessing bad attitudes of healthcare providers, and seeing HIV- clients lacking knowledge of the condition. The study found that these counselors performed six core roles: providing nutritional counseling, educating clients on HIV, treatment, and medication provision, conducting testing and comprehensive counseling of clients, providing social support to clients, and offering financial support to clients. The experiences these counselors had were boosting clients’ health status, counseling clients back to a normal mental state, cooperation from clients, participants gaining knowledge on HIV through counseling, counseling clients to accept their status, and when a client delivered an HIV-negative baby. Their negative experiences included clients denying their HIV status, clients defaulting on their treatment, uncooperative clients, death of clients due to fear of breach of confidentiality, self-stigmatization among clients, and the myths some people hold towards HIV/AIDS.ConclusionBy organizing capacity-building training programs for HIV/AIDS counselors in the Volta region and addressing the negative experiences they encounter, they could be empowered to provide effective counseling, curative, and social services to people living with HIV in the region, leading to improved health outcomes.

Evaluation of comprehensive guidance and counseling program using the CIPP model

Evaluation of comprehensive guidance and counseling program using the CIPP model

The Impact of Implementing Premarital Health Test Certificate Requirements on Unregistered Marriage Practices

This research aims to understand the impact of implementing premarital health test certificate requirements on unregistered marriage practices in Ujung Batu III Village. This study combines normative and empirical research methods. Subsequently, the collected data were analyzed qualitatively to describe the problem and address the research purposes. The results show that implementing premarital health test certificate requirements in Ujung Batu III Village has a complex impact on unregistered marriage practices. Although this policy aims to raise awareness about the importance of reproductive health and prevent early marriage, it has become an obstacle for some prospective couples who choose unregistered marriage. This is due to several factors, such as a lack of understanding about the importance of health tests, concerns about privacy and social stigma, conflicts between state law and religious law, and the prevalence of early marriage. Therefore, it is recommended that the Religious Affairs Office of Hutaraja Tinggi Sub-district intensify outreach and education about the importance of premarital health tests and their implications, especially for couples potentially engaging in unregistered marriage. The Ujung Batu III Village Government needs to strengthen coordination with the Religious Affairs Office and health institutions and involve community and religious leaders in disseminating the policy and providing guidance to prospective couples. Health institutions must improve the accessibility and quality of premarital health test services, including expanding the scope of examinations and providing comprehensive counseling. Community and religious leaders should play an active role in educating the public about the importance of healthy and registered marriages and help eliminate the stigma associated with health tests and early marriage. The community needs to proactively seek information about reproductive health, understand the importance of premarital health tests, and support government efforts in preventing early marriage and unregistered marriages.

Navigating the Impact of the Dobbs Decision: Perspectives from Pediatric Surgeons on Reproductive Healthcare.

Nationwide abortion restrictions resulting from the Dobbs v Jackson Women's Health Organization (2022) decision have generated confusion and uncertainty among healthcare professionals, with concerns for liability impacting clinical decision-making and outcomes. The impact on pediatric surgery can be seen in prenatal counseling for fetal anomaly cases, counseling for fetal intervention, and recommendations for pregnant children and adolescents who seek termination. It is essential that all physicians and healthcare team members understand the legal implications on their clinical practices, engage with resources and organizations that can help navigate these circumstances, and consider advocating for patients and themselves. Pediatric surgeons must consider the impact of these changing laws on their ability to provide comprehensive and ethical care and counseling to all patients.

Diagnosis and Treatment Approaches in Vaginal Agenesis

The development of the female genital system is a complex process that depends on a series of events involving cellular differentiation, migration, fusion, and recanalization. Failure of any of these processes results in congenital anomalies. Developmental anomalies can occur at various stages, resulting in conditions that impact both the urinary and reproductive systems. In younger patients, such malformations can significantly affect their overall health and quality of life, including aspects such as fertility, sexual function, and psychological well-being. The psychosexual effects of vaginal agenesis should not be overlooked, and clinical care primarily involves comprehensive counseling and support through open communication with the patient. For adult patients, treatment for vaginal agenesis typically starts with therapeutic counseling and education, with non-invasive vaginal dilation being recommended as the first-line approach, or surgery if necessary. Consequently, managing these issues often requires a multidisciplinary approach, engaging specialists such as urologists, gynecologists, endocrinologists, and geneticists, among others. Early detection and timely intervention can greatly enhance the outlook for individuals with these conditions. Besides considering the patient's expectations, the surgeon's experience plays a crucial role in selecting the appropriate surgical technique. This is because the success of the initial surgery is critical to the effectiveness of any subsequent procedures if required. In this review, the evaluation and treatment of vaginal agenesis, which constitutes an important part of congenital anomalies of the vagina, were discussed.

The Proposed Model for Pharmacy Led Med-to-bed Discharge Service in Tertiary Care Hospital

Introduction: The pharmacy-led discharge medication delivery to bedside (Med-to-bed) service in a tertiary care Johns Hopkins Aramco Healthcare (JHAH) hospital aims to optimize medication management during patient transitions from admission to discharge, especially for those with chronic conditions. The service entails the direct delivery of discharge medications to patients at the pharmacy following their discharge from inpatient wards, accompanied by comprehensive medication counseling. The pharmacy-led Med-to-Bed service aims to reduce patient wait times and improve overall clinical outcomes. Methods: This article highlights common challenges in medication reconciliation and post-discharge prescription fulfillment, highlighting the need for standardized protocols and improved hospital adherence to ensure seamless care transitions. It also discusses future considerations for optimizing the Med-to-Bed service, including proposed pharmacy renovations, installing a dedicated robotic dispensing system, and providing private spaces for patient counseling during medication pickup. Additionally, the proposal suggests deploying more pharmacy staff to address delayed discharge orders and making systemic enhancements to the EHR system to streamline prescription pickup. Result: The successful implementation of the proposed pharmacy-led Med-to-Bed service demonstrates the efficacy of interdisciplinary collaboration among nurses, physicians, and pharmacists. Through this collaborative approach, the Med-to-Bed service has shown tangible improvements in operational efficiency and patient outcomes, underscoring its potential to transform healthcare delivery models. Conclusion: Overall, this proposed model provides valuable insights into the transformative impact of integrated care initiatives like the Med-to-bed service in tackling complex medication management and enhancing quality patient care in hospitals.

Refractive Lens Exchange: A Review.

In recent decades, technical advancements in lens surgery have considerably improved safety and refractive outcomes. This has led to a much broader range of indications for refractive lens exchange (RLE). Effective restoration of uncorrected distance and near visual acuity is possible with modern presbyopia correcting intraocular lenses (IOLs). Hyperopic patients who are fully presbyopic were identified as ideal candidates for RLE. For myopic patients, an increased risk of retinal detachment has been reported, which leads to a higher threshold to perform RLE in this patient group. The most frequent postoperative complications include posterior capsular opacification, deviation from the target refraction and cystoid macular edema. Thus, adequate planning of surgery, careful patient selection, as well as comprehensive counseling are crucial for successful RLE.

Assessing the effect of concerns about contraceptive-induced fertility impairment on hormonal contraceptive use by parity and residence: evidence from PMA Ethiopia 2020 cross-sectional survey

ObjectivesThis study aims to describe patterns of beliefs about contraceptive-induced infertility and assess their relationship with current contraceptive use, including whether these relationships vary by parity and residence.DesignWe use data...

Male contraception: Focus on behavioral and barrier methods.

Male contraception includes various methods designed to prevent pregnancy by focusing on the male's role in reproduction. Behavioral methods, such as withdrawal and periodic abstinence, offer non-invasive alternatives that require self-control and precise timing to avoid depositing sperm in the female reproductive tract during fertile periods. However, these methods generally have low effectiveness and rely heavily on user adherence and experience. The male condom, a barrier method, provides both contraception and protection against sexually transmitted infections. Its effectiveness relies on correct and consistent use. Access to comprehensive sexual education and medical counseling is essential to dispel the stigma surrounding contraceptive use and correct misconceptions, ensuring proper usage and ultimately contributing to better reproductive health outcomes.

Streamlining the Journey of Research Into Clinical Practice: Making Your Patients and Practice Flourish Understanding and Setting Treatment Expectations for Patients With Metastatic Spine Tumors.

Literature review with clinical recommendation. A concise curation of the latest spine literature exploring the relationship between expectations and satisfaction for patients with metastatic spinal disease (MSD). Deliver recommendations to practicing clinicians regarding interpretation and utilisation of this evidence. The latest spine literature in the topic of factors affecting the expectations of patients with MSD was reviewed and clinical recommendations were formulated. Recommendations are graded as strong or Conditional. 5 articles were selected. Article 1: risk factors for the development of dissatisfaction from a cohort of 362 MSD patients. Strong recommendation to incorporate risk factor assessment when considering treatment. Article 2: systematic review assessing the relationship between pre-operative patient expectations and subsequent satisfaction in allied disciplines. Conditional recommendation to optimize patient expectation to positively modify patient satisfaction. Article 3: qualitative study of how clinicians, from different specialties, counsel patients with MSD pre-treatment. Strong recommendation to use a multidisciplinary approach. Article 4 qualitative study of how MSD patients experience their pre-treatment counselling and how that affected their appreciation of treatment success. Conditional recommendation to furnish patients with tailored, expected outcomes in the context of systemic progression. Article 5 Design and validation of a pre-treatment questionnaire specific to MSD. A conditional recommendation to incorporate this questionnaire in clinical and research MSD practice. Patients with MSD are approaching end of life care and high levels of treatment satisfaction are crucial at this juncture. The role of expectation management and comprehensive counselling is critical.

Strategies for Reducing Medical Errors and Enhancing Profitability in Retail Pharmacy Management: A Holistic Approach

This study explores effective strategies to reduce medical errors and improve healthcare profitability, offering insights and evidence-based recommendations for managers and supervisors. It focuses on enhancing both patient safety and financial stability.The study analyzes strategies to mitigate medical errors and boost financial stability, such as optimizing workflows, minimizing distractions, ensuring proper medication storage, implementing prescription reviews, and providing comprehensive patient counseling. It also examines the role of organizational culture, adequate staffing, and balanced workloads in fostering a safety-oriented environment.The findings emphasize the importance of a system-oriented approach and the role of managers in promoting a culture of safety. Implementing cost-effective measures enhances patient safety and contributes to financial health.A multifaceted approach, integrating effective strategies, supportive culture, and active manager participation, is essential for reducing medical errors and improving profitability. Balancing financial goals with patient care ensures sustainability and success. Further research is needed to explore effective strategies in various healthcare settings.

Marital Infidelity among Married Couples: Roles of Emotional Intelligence and Narcissistic Personality Traits in Makurdi, Benue State

This study investigated emotional intelligence and narcissistic personality traits as predictors of marital infidelity in Makurdi Metropolis Benue State. Two hundred married couples from the area, who had been married for up to five years (2018 - 2022), participated in this cross-sectional research. The sample consisted of 96 (48%) males and 104 (52%) females, with an average mean age of X=2.64, and standard deviation of SD=.80850. The Brief Emotional Intelligence Scale, Hypersensitive Narcissism Scale (HSNS), and Marital Infidelity Scale (MIS) were used for data collection. Simple linear and multiple linear regression analysis were employed to test three hypotheses. The results indicated that emotional intelligence significantly predicted marital infidelity among married couples in Makurdi Metropolis [R=.418, R2=174 F (1,194) = 40.973, p<.01]. Similarly, narcissistic personality traits significantly predicted marital infidelity among couples in the same area [R=.418, R2=174 F(1,194) = 40.973, p<.01]. Additionally, the combination of emotional intelligence and narcissistic personality traits had a significant predictive influence on marital infidelity [R = .435, R2 = .189, F(2,187) = 21.627 p<.01]. Based on these findings, it is recommended that couples improve on willingness to communicate - communication skills and understanding of each other’s emotions is very important before making and taking any actions. This can help navigate conflicts and challenges more effectively. Marital Institutions can offer comprehensive pre-marital counselling programs that include discussions on emotional intelligence, conflict resolution, and relationship expectations.

Fruits and vegetables dietary intake and its estimated consumption among adults receiving antiretroviral therapy in health facilities in Northcentral Ethiopia: a multi-facility cross-sectional study.

Despite the significant role of fruit and vegetables (FAVs) in preventing a variety of chronic diseases and their potential to bolster immune responses and slow the progression of HIV infection to AIDS, there is a lack of studies on the dietary intake of FAVs among HIV-infected adults in Africa, including Ethiopia. Hence, this study aimed to investigate the magnitude of FAV intake and estimated consumption among HIV-infected adults receiving antiretroviral therapy (ART) in northcentral Ethiopia. A multifacility cross-sectional study was conducted on the FAV intake among 865 HIV-infected adults receiving ART. A Poisson regression model with robust variance was used to identify factors associated with FAVs dietary intake. The study indicated that 655 (76.34%; 95% CI: 73.38, 79.07) HIV-infected adults reported consuming FAVs less than once per day, with 838 (97.67%, 95% CI: 96.41, 98.49) and 676 (78.79%, 95% CI: 75.92, 81.40) HIV-infected adults reporting consuming fruits and vegetables less than once per day, respectively. The median (IQR) total FAV intake was 271.3 (IQR: 92.5, 439.5) g/day, with the median (IQR) intake of fruits being 248.1 (IQR: 100.0, 400.0) g/day and vegetables being 273.78 (IQR: 82.44, 348.33) g/day, respectively. We found that being divorced (APR = 1.57, 95% CI: 1.16, 2.12), employed as a daily laborer (APR = 2.08, 95% CI: 1.36, 3.20), being employed (APR = 1.77, 95% CI: 1.10, 2.84), merchants (APR = 1.59, 95% CI: 1.03, 2.47), having children as caregivers (APR = 1.61, 95% CI: 1.02, 2.55), an advanced WHO clinical stage (APR = 1.32, 95% CI: 1.32(1.03, 1.69), and receiving ART for more than 8 years (APR = 1.78, 95% CI: 1.18, 2.67) were found to be independent predictors of FAV dietary intake among HIV-infected adults. From the findings, we understood that farmers were less likely to consume FAVs compared to employed individuals, daily laborers, and merchants. The finding indicated a very low level of FAV dietary intake among HIV-infected adults receiving ART, falling well-below the minimum recommendation for physically active adults. Despite living in areas with surplus production and producing these items, farmers are less likely to consume FAV. The study emphasizes the importance of focusing on the early stage of ART treatment for patients and family therapy, including counseling and guidance on consuming healthy diets such as FAVs, to enhance the role of children as caregivers for their families. Additionally, there is a need for comprehensive nutritional counseling to improve FAV consumption, with a particular emphasis on educating individuals about portion size estimation for the consumption of FAVs.

Nonadherence to oral cancer chemotherapy in hepatocellular carcinoma: prevalence and predictive factors in Vietnam

PurposeStandard oral cancer chemotherapy (OCT) or targeted therapy (OTT) has expanded the treatment methods for hepatocellular carcinoma (HCC). However, its principal nonadherence causes a reduction in efficacy. We aimed to evaluate the status of nonadherence and influencing factors among outpatient patients with HCC.Patients and methodsIn 2021, a prospective observational study was conducted on 384 patients with either old or newly diagnosed HCC treated with OTT. Nonadherence to OCT was determined using the eight-item Morisky Medication Adherence Scale, with a score < 6 points. The patients were finished with a six-month follow-up investigation by questionnaires.Results54,8% of HCC outpatients were nonadherent to OCT, with a mean Morisky score of 5.19. They dropped out of the treatment mainly because of drug side effects, such as fatigue (72.4%), hand-foot syndrome (42.7%), diarrhea (38.3%), nausea (25%), insomnia (24.7%), abdominal pain (12%), and anxiety about these adverse events (65.9%). Additionally, financial difficulties and low relative copayments were significantly correlated with the noncompliant treatment of patients (OR = 2.29, 95% CI = 1.32–3.98, P = 0.003; OR = 4.36, 95% CI = 0.95–19.93, P = 0.039, respectively). Moreover, inadequate individual information about the clinical course, the art of treatment, and medication usage instructions were suggestive barriers to adherence to treatment (OR = 1.96, 95% CI = 1.08–3.55, P = 0.024; OR = 1.86, 95% CI = 1.1–3.14, P = 0.02; OR = 2.34, 95% CI = 1.29–4.26, P = 0.004, respectively). Finally, a low level of trust in doctors was an essential factor in nonadherence (Mean of the Anderson Trust in Physician Scale scores counted 38.12 vs. 43.97, respectively for non-adherence vs. adherence, P = 0.00001).ConclusionsThis study suggests a high rate of primary nonadherence to standard oral targeted therapy among HCC outpatient patients because of drug side effects, patient awareness of treatment, and lack of confidence in healthcare providers. Close supervision, proper medication instructions, appropriate dosage reductions, and comprehensive patient counseling might be necessary to control nonadherence.

Impact on Sexual Function and Wish for Subsequent Pregnancy after Uterus-Preserving Prolapse Surgery in Premenopausal Women.

(1) Background: Pelvic organ prolapse (POP) affects millions of women globally, impacting their quality of life and potentially influencing family planning decisions. This study aimed to assess the impact of uterus-preserving prolapse surgery on the sexual function, desire for children, and pregnancy outcomes in premenopausal women with symptomatic POP. (2) Methods: A survey study was conducted among patients who underwent sacrospinous hysteropexy at a tertiary hospital between 2001 and 2021. Telephone interviews were performed to gather data on sexual function, desire for children, and satisfaction with surgical outcomes. (3) Results: The study included 33 premenopausal women, revealing diverse factors influencing sexual activity and desire for children following surgery. While most of the participants expressed a desire for children after surgery, sexually inactive individuals were more likely to report an unfulfilled desire for children. Fear of incontinence during sexual activity emerged as a significant concern for the sexually inactive participants. (4) Conclusions: The study highlights the need for comprehensive counselling and tailored interventions to address the multifaceted needs of women with POP. Further research is warranted to highlight the long-term implications of uterus-preserving surgeries on women's health and well-being.

The Role of Social Determinants in Diagnosis Timing for Fetal Care Center-Eligible Conditions: A Scoping Review.

Timely identification of fetal conditions enables comprehensive evaluation, counseling, postnatal planning, and prenatal treatments. This study assessed the existing evidence on how social determinants of health (SDOH) influence diagnosis timing of fetal conditions appropriate for care in fetal care centers (FCCs). Eligible studies were conducted in the U.S. and published in English after 1999. We employed the Healthy People 2020 SDOH framework to categorize and analyze data from 16 studies, where 86% focused solely on congenital heart disease (CHD). Studies primarily focused on individual-level SDOH, with only 36% addressing structural-level factors. A total of 31 distinct indicators of SDOH were identified, with 68% being unique to individual studies. Indicators often varied in definition and specificity. Three studies covered all five SDOH categories in the Healthy People 2020 Framework. Studies revealed varying and often conflicting associations with SDOH indicators, with race and ethnicity being the most explored (100%), followed by socioeconomic status (69%), maternal age (57%), residence (43%), and structural factors (29%). Our findings highlight the need for more comprehensive research, including conditions beyond CHD, and the establishment of consensus on indicators of SDOH. Such efforts are necessary to gain a deeper understanding of the underlying factors driving disparities in fetal diagnosis and treatment.

Midwives' and Obstetric Physicians' Practices Related to Pregnancy Nutrition Counseling: A Scoping Review.

Dietary intake during pregnancy impacts short- and long-term maternal and fetal health outcomes. Dietary habits are highly individualized and influenced by contextual factors and social determinants of health within each person's lived environment. Midwives and other health care providers are well positioned to facilitate nutrition conversations and interventions with patients related to recommendations and modifications before and during pregnancy. This scoping review synthesizes the literature on perinatal care providers' attitudes and practices related to antenatal nutrition counseling. An electronic database literature search was conducted in March 2023 using the following inclusion criteria: English language, published between 1990 and 2023, completed in high-income countries, and evaluated provider practices related to educating pregnancy patients on nutrition. Exclusion criteria included comparison or interventional studies as well as those focused on patient perspectives, specialty diets, comorbidities, or pregnancy complications. Thematic analysis was completed to identify common themes and subthemes across studies related to perinatal care providers' perspectives of pregnancy nutrition. Thirty-six articles were included in the final review. Although providers acknowledged the importance of nutrition for pregnancy outcomes, few reported being able to cover the topic in-depth during antenatal visits. Counseling was usually generalized, limited in scope, and lacked consideration of patient-specific contextual factors such as dietary restrictions, preferences, or access to resources needed to follow recommendations. Provider barriers to comprehensive nutrition counseling included lack of training and time during clinic visits and limited availability of guidelines. Multiple gaps in current pregnancy nutrition counseling practices exist. Despite nutrition being viewed by perinatal care providers as an important part of pregnancy, multiple barriers lead to it being overlooked during patient-provider interactions. Contextual factors for both providers and patients contribute to failure of current interventions to consistently and significantly impact dietary habits of pregnant people.

P-551 Application of simultaneous PGT-M/PGT-A using whole genome sequencing and haplotyping for monogenetic disorders, multiple variants, low penetrance, and de novo disorders

Abstract Study question Is the concurrent use of high-resolution PGT-A and genome-wide haplotyping with disease-specific assays for PGT-M effective in an unselected patient population at-risk for monogenetic disorders? Summary answer PGT-A/PGT-M is an effective treatment for couples/patients burdened with genetic diseases, that provides optimal family planning, prevents vertical transmission, and reduces personal and societal encumbrance What is known already Societal awareness of genetic testing expanded the use of carrier screening, diagnostic genetic tests, and higher in vitro fertilization (IVF) utilization has increased demand for preimplantation genetic testing for monogenetic disorders (PGT-M), as an alternative to invasive prenatal tests. The scope of PGT-M testing expands beyond common severe childhood disorders, to include serious and mild late onset disorders, cancer predisposition, variants of unknown significance, de novo mutations, and variants in multiple genes. This highlights novel ethical dilemmas, necessitating adjustment of generic genome wide approaches to complement, or eventually replace, targeted disease-specific PGT-M assays. Study design, size, duration This is a retrospective study of 359 couples at-risk for monogenetic disorders referred to the CReATe Fertility Centre, Toronto, Canada. Our objective was to evaluate the efficiency of concurrent use of genome wide haplotyping and disease specific assays for PGT-M and high resolution PGT-A in an unselected patient population at risk for monogenetic disorders, multiple and de novo variants, low penetrance and variants of unknown significance. Participants/materials, setting, methods All patients received comprehensive genetic counselling. For each couple/patient, DNA from gamete providers, related family member/s and whole-genome amplified (WGA)DNA from a single trophectoderm(TE) biopsy were analyzed. Whole-genome SNP-array (Karyomapping, Illumina, CA) and STR-analysis were used to obtain parental haplotypes and Sanger-sequencing was used for direct variant analysis. PGT-A was performed using Illumina platform(NextSeq 550). NxClinical (BioDiscovery) and BlueFuse Multi(Illumina) software were used for data analysis. Main results and the role of chance 1826 embryos, from 235 IVF cycles were analyzed for 88 unique genes (14 cancer predisposing, 42 autosomal recessive and 32 dominant genes) and a total of 282 unique variants. The most frequent genes tested were BRCA1/2 -21% of all cases, followed by HBB-8.7%, CFTR-8.7% and CYP21A2-8.7%. PGT-M for 11 cases was done for a de novo variant detected in a sibling and in 2 cases for a parental mosaic variant. Multiple genes and VUS were analyzed in 12 and 6 cases, respectively. PGT-A analysis showed 31.6% aneuploidy, 9.6% mosaicism and 58.8% euploidy. Genome wide haplotyping was used for euploid and mosaic embryos with an average case call rate of 95%, and average case Allele Drop Out (ADO) rate of 2.7%. Recombination events in 3% of cases prevented assignment of haplotype. Direct mutation testing was obtained for all samples and was 100% concordant with the predicted haplotypes. In cases with no predicted haplotype, direct testing established the PGT-M diagnosis. The distribution for both recessive and dominant disorders was in Mendelian order. To date 66 live births confirmed the results from PGT-M diagnosis. Limitations, reasons for caution Ethical considerations and extensive genetic counselling are prerequisites for PGT-A/M testing implementation. Simultaneous screening for embryo aneuploidy and monogenetic disorders optimizes patient treatment and family planning, but may not be available in all jurisdictions. Although the data was collected prospectively, retrospective design is a limitation. Wider implications of the findings Simultaneous PGT-A and PGT-M with direct variant testing provides optimal embryo prioritization for transfer and significantly reduces time to a healthy pregnancy in couples at risk for inherited disorders. Karyomapping is effective for generic haplotyping, with a low risk of undetected recombination events in the genomic region of interest. Trial registration number not applicable

P-525 Is there an impact of chromosomal structural rearrangements on IVF laboratory outcomes in PGT-SR cycles? a propensity score matching-based study

Abstract Study question Are IVF laboratory outcomes altered in PGT-SR cycles, and how are these outcomes affected by the type of rearrangement and the carrier’s gender? Summary answer PGT-SR cycles showed a decrease in overall blastulation and top-quality blastocyst rates compared to PGT-A cycles. Transferable blastocyst rate correlates with chromosomal structural rearrangement type. What is known already Chromosomal structural rearrangements (SR) are associated with altered gametogenesis, resulting in the formation of gametes with chromosomal imbalances. For affected couples, undergoing IVF cycles with PGT-SR is recommended to select embryos with a normal or balanced karyotype. Scarce data exist on IVF laboratory outcomes in couples undergoing PGT-SR cycles. Findings regarding blastocyst rate, mainly focused on high-quality blastocysts, remain unclear. In addition, structural rearrangement carriers yield fewer transferable blastocysts than patients undergoing PGT-A. Conclusive evidence regarding the influence of carrier gender and type of chromosomal SR on the development of transferable blastocysts is lacking, with existing studies yielding contradictory results. Study design, size, duration This retrospective cohort study was conducted at a single university-affiliated obstetrics and fertility center between January 2019 and November 2023. The analysis involved 558 patients undergoing IVF cycles, including 136 in PGT-SR and 422 in PGT-A cycles. Participants/materials, setting, methods Trophectoderm biopsies from day 5/6/7 blastocysts underwent comprehensive chromosome screening utilizing validated NGS. Propensity Score Matching with a 1:1 match ratio was performed to balance baseline characteristics between the PGT-SR and PGT-A groups. The impact of chromosomal structural rearrangements on laboratory outcomes was assessed using a logistic regression model. Subsequently, within the PGT-SR population, the association between the carrier’s gender and the transferable blastocyst rate was evaluated through logistic regression, adjusting for potential confounders. Main results and the role of chance There was no significant difference in the fertilization rate between the PGT-A and PGT-SR groups (OR = 1.26, 95% CI 1.01-1.60, p-value=0.14). However, the PGT-SR group exhibited a significantly lower overall blastulation rate (36.7%) compared to the PGT-A group (42.8%) (OR = 0.76, 95% CI 0.63-0.93, p-value=0.03). Notably, a significant difference was observed in the top-quality blastocyst rate, with PGT-A patients showing a rate of 21.7% versus 9.57% in PGT-SR patients (OR = 0.45, 95% CI 0.29-0.69, p-value&amp;lt;0.01). In the PGT-SR cohort, female carriers constituted 44.1%, while male carriers were 56.6%. Reciprocal translocations represented 56.5% of the structural rearrangements, with the remaining 43.5% being other types. When comparing female to male carriers, no significant association was observed between the transferable blastocyst rate and the carrier’s gender (OR = 0.90, 95% CI = 0.35-2.31, p-value=0.83). However, a notable association was identified between the transferable blastocyst rate and the type of structural chromosomal rearrangements (OR = 0.16, 95% CI = 0.09-0.29, p-value&amp;lt;0.01). Specifically, in cases where the patient carried a chromosomal SR other than reciprocal translocation, the transferable blastocyst rate was 83.2%, in contrast to 44.9% in patients with reciprocal translocations. Limitations, reasons for caution The retrospective design of this study represents a limitation, and the limited sample size of patients with structural chromosomal rearrangements restricts the statistical power. Wider implications of the findings These findings reveal that patients with SR yield fewer embryos for biopsy than those undergoing PGT-A, showing a reduced rate of transferable blastocysts in cases of reciprocal translocations. Consequently, providing comprehensive counseling and managing expectations for couples undergoing PGT-SR is essential. Trial registration number not applicable