Emphasizing the need for preconceptional, prenatal genetic counseling and comprehensive genetic testing in consanguinity: challenges and experience.

Preconception and prenatal genetic counseling is a well-established means of risk assessment in many parts of the world, and in recent years, an emerging concept in India. Likelihood of an offspring having autosomal recessive disorder increases based on the degree of consanguinity. Hence, genetic testing of the couple for the identification of carrier status for disease-causing variants is crucial. The purpose of this study is to understand the frequency of genetic abnormalities in consanguineous marriages by using a comprehensive genetic testing algorithm where in karyotyping, FISH, exome sequencing and microarray are used sequentially to determine the genetic etiology based on the clinical presentation and to evaluate the need and benefits of preconceptional and prenatal genetic counseling. This retrospective study includes 66 couples having consanguinity referred for genetic counseling and testing. Of the 66 couples, 58 underwent comprehensive genetic testing which included Karyotyping, Fluorescence in Situ Hybridization (FISH), Microarray and Exome sequencing based on their clinical presentation. The analyses revealed a genetic abnormality in approximately 31% and chromosomal polymorphic variations & variants of uncertain significance in 17% of the couples. Counseling in these couples helped in identifying the carrier status and enabled them to take an informed decision in subsequent pregnancies. These findings reiterate the acute need for preconception and prenatal genetic counseling services in India.

Tackling inequalities in preconception health and care: barriers, facilitators and recommendations for action from the 2023 UK preconception EMCR network conference.

Reducing inequalities in preconception health and care is critical to improving the health and life chances of current and future generations. A hybrid workshop was held at the 2023 UK Preconception Early and Mid-Career Researchers (EMCR) Network conference to co-develop recommendations on ways to address inequalities in preconception health and care. The workshop engaged multi-disciplinary professionals across diverse career stages and people with lived experience (total n = 69). Interactive discussions explored barriers to achieving optimal preconception health, driving influences of inequalities and recommendations. The Socio-Ecological Model framed the identified themes, with recommendations structured at interpersonal (e.g. community engagement), institutional (e.g. integration of preconception care within existing services) and environmental/societal levels (e.g. education in schools). The co-developed recommendations provide a framework for addressing inequalities in preconception health, emphasising the importance of a whole-systems approach. Further research and evidence-based interventions are now needed to advance the advocacy and implementation of our recommendations.

Expanding families: a pilot study on preconception expanded carrier screening in Bahrain.

BACKGROUND: Preconception expanded carrier screening (ECS) is a genetic test that enables the identification of at-risk carriers of recessive disorders by screening for up to hundreds of genes. Next-generation sequencing (NGS) development has paved the way for its integration into ECS. This study aims to identify the carrier genetic status of couples experiencing or anticipating conception challenges through NGS-based ECS and to gain an overview of the rare genetic disorders in a population with increased consanguinity. METHODS: Thirty couples who presented to the Genetic Disease Clinic between 2015 and 2024 with failed reproductive outcomes or with a positive personal or family history of genetic disorders and underwent ECS were included and retrospectively analyzed. RESULTS: Fifty-four individuals (90.00%) were found to carry at least one variant of 95 identified genes, totaling 174 variants. Six individuals (10.00%) tested negative for any variant. Seven individuals had one variant (11.67%), 13 had two variants (21.67%), and 34 had 3 or more variants (56.67%). The most common variants identified were of HBA, HBB, CYP21A2, and G6PD genes. Most of the detected variants were unknown or unexpected (n = 143, 82.18%). Eight couples carried two or more variants in common. Consanguinity was reported in 14 couples (46.67%). CONCLUSIONS: Preconception ECS is crucial for reproductive planning, permitting couples to evaluate their combined genetic risks and make informed decisions, reducing the chance of having children with genetic disorders.

Clinical characteristics and treatment during preconception and perinatal period of infertile women with non-classical 21-hydroxylase deficiency.

OBJECTIVE: A single-center observational study to determine the clinical characteristics and therapeutic dose adjustments in women of reproductive age with infertility and non-classical 21-hydroxylase deficiency (NC-21OHD). DESIGN: A retrospective analysis of 20 women of reproductive age who were diagnosed with NC-21OHD during an infertility evaluation at Shengjing Hospital of China Medical University from January 2013 to May 2024 was performed. The clinical manifestations, auxiliary examinations, adjustment of glucocorticoid (GC) treatment during preconception and perinatal period, and pregnancy outcomes were analyzed. RESULTS: 14 of 16 patients (87.5%) had inappropriately elevated progesterone levels during the follicular phase. The average levels of 17α-hydroxyprogesterone, testosterone, androstenedione, and dehydroepiandrosterone sulfate in the follicular phase were also significantly increased. All 20 infertile patients received GC treatment before preparing for pregnancy. During the follow-up, six of 20 patients had seven conceptions. three patients had spontaneous abortions in the first trimester and four patients delivered babies (4/20). Three patients had a GC dose that was maintained throughout pregnancy and one had an increase in the GC dose starting in the second trimester. Of the remaining 16 patients, seven are still trying to conceive and nine had discontinued treatment. CONCLUSIONS: An abnormal increase in the follicular phase progesterone level is the most common serologic marker for NC-21OHD among infertile women. Ovulation can be restored after GC treatment, but the proportion of successful conceptions remains low. The dose of GCs in most pregnant women remained unchanged throughout pregnancy.

A development and implementation of a preconception counseling program for black women and men in the southeastern United States: a pilot protocol.

Introduction: Racial/ethnic disparities in maternal mortality rates represent one of the most significant areas of disparities amongst all conventional population perinatal health measures in the U.S. The alarming trends and persistent disparities of outcomes by race/ethnicity and geographic location reinforce the need to focus on ensuring quality and safety of maternity care for all women. Despite complex multilevel factors impacting maternal mortality and morbidity, there are evidence-based interventions that, when facilitated consistently and properly, are known to improve the health of mothers before, during and after pregnancy. The objective of this project is to test implementation of pre-conception counseling with father involvement in community-based settings to improve cardiovascular health outcomes before and during pregnancy in southeastern United States. Methods and analysis: This study has two components: a comprehensive needs and assets assessment and a small-scale pilot study. We will conduct a community informed needs and assets assessment with our diverse stakeholders to identify opportunities and barriers to preconception counseling as well as develop a stakeholder-informed implementation plan. Next, we will use the implementation plan to pilot preconception counseling with father involvement in community-based settings. Finally, we will critically assess the context, identify potential barriers and facilitators, and iteratively adapt the way preconception counseling can be implemented in diverse settings. Results of this research will support future research focused on identifying barriers and opportunities for scalable and sustainable public health approaches to implementing evidence-based strategies that reduce maternal morbidity and mortality in the southeastern United States' vulnerable communities. Discussion: Findings will demonstrate that preconception counseling can be implemented in community health settings in the southeastern United States. Furthermore, this study will build the capacity of community-based organizations in addressing the preconception health of their clients. We plan for this pilot to inform a larger scaled-up clinical trial across community health settings in multiple southeastern states.

Management of undernutrition during preconception and pregnancy in an urban setting in North India.

Introduction: The prevalence of underweight in women of reproductive age (WRA) in South Asia remains unacceptably high. Underweight women suffer from lowered immunity, infertility, and a risk of developing non-communicable diseases. In pregnancy, undernutrition results in poor neonatal and maternal outcomes. We present the findings and the management strategy of undernutrition in the preconception and pregnancy phase intervention group in the WING study in low- to lower-middle-income neighborhoods of North India. Methods: We analyzed data from the Women and Infants Integrated Interventions for Growth Study (WINGS) intervention group. In this individually randomized factorial design trial, 13,500 women were enrolled from low to middle-income neighborhoods of Delhi: 6,722 women in the preconception group and 2,640 from the pregnancy group. Food supplements in the form of locally prepared snacks were given to provide necessary calories and protein requirements as per the Body mass index (BMI) during the preconception period and each trimester of pregnancy. The snacks (sweet or savory) and milk or egg as a source of high-quality protein were delivered at home, and intakes were observed. Individual tracking and close monthly monitoring were done for compliance, besides screening and treatment of infections. Results: The enrolled women's mean (SD) age was 24.2 (3.1) years. Approximately 35% of women had a height of < 150 cm, and 50% had schooling >12 years. 17% of women in preconception and 14 % in pregnancy intervention groups were Underweight. Approximately two-thirds of underweight women improved 9-12 months after management in the preconception group, and the same proportion improved 4 weeks after management during pregnancy. The proportion of women with inadequate weight gain (IWG) during pregnancy was higher in women who were underweight during preconception. Discussion: A comprehensive approach to managing undernutrition with high-quality energy-dense food supplementation substantially improved weight gain in women during preconception and pregnancy. Clinical trial registration: http://ctri.nic.in/Clinicaltrials/pmaindet2.php?trialid=19339%26EncHid=%26userName=societyforappliedstudies, identifier: Clinical Trial Registry India #CTRI/2017/06/008908.

Limb-girdle muscular dystrophy in pregnancy: a narrative review.

Limb-girdle muscular dystrophy (LGMD) poses unique challenges for women during pregnancy, necessitating comprehensive care and tailored management strategies. The present narrative review aims to examine the unique challenges and management strategies required for women with LGMD during pregnancy. With over 30 genetic subtypes identified and the potential for additional discoveries through advanced diagnostic techniques, preconception counseling plays a crucial role in informing prospective parents about reproductive risks and available options. Baseline assessments, including cardiac and pulmonary evaluations, are essential to guide antenatal care, alongside genetic testing for precise diagnosis and counseling. Optimizing maternal health through respiratory exercises, cardiac monitoring, and individualized exercise and nutrition plans is paramount to avoid potential complications. During pregnancy, close monitoring of maternal and fetal well-being is important, with collaborative care between obstetricians and specialists. An individualized approach to delivery mode considering factors such as muscle strength, pelvic size, and fetal presentation is crucial. While vaginal delivery has been proven to be possible, the need for an emergency cesarean delivery should always be kept in mind. Regional anesthesia is preferred, with proactive planning for potential respiratory support. Bupivacaine has been shown to be effective with epidural catheters that may be used for prolonged relief with opioids like morphine and fentanyl, while also evaluating the patients' respiratory function. Postpartum considerations include pain management, mobility support, breastfeeding assistance, and emotional support. Early mobilization and tailored physiotherapy regimens may promote optimal recovery, while comprehensive breastfeeding guidance is needed to address challenges related to muscle weakness. Access to mental health resources and support networks is essential to helping individuals cope with the emotional demands of parenthood alongside managing LGMD. By addressing the unique needs of pregnant individuals with LGMD, healthcare providers can optimize maternal and fetal outcomes while supporting individuals in their journey to parenthood.

Effects of a Pre-Conception Care Program in Women with Inflammatory Bowel Disease: A Mixed-Methods Study Including a Randomized Controlled Trial.

PURPOSE: The purpose of this study was to conduct a pre-conception care program for women of childbearing age with inflammatory bowel disease (IBD) in Korea and verify its effects on self-efficacy for IBD management, IBD-related pregnancy knowledge, and IBD-related pregnancy anxiety. It also aimed to explore the changes in participants through the program. METHODS: A convergent mixed-methods study design was adopted. In the quantitative phase, 35 women (17 and 18 in the intervention and control group, respectively) participated. The intervention group attended a program that included small-group sessions and individual tele-coaching. To confirm the effects, data were collected before and one and four weeks after the intervention. In the qualitative stage, focus group interviews and tele-coaching were conducted with the intervention group. RESULTS: After the program ended, significant differences were observed over time between the intervention and control groups for self-efficacy for IBD management (Wald χ² = 4.41, p = .036), IBD-related pregnancy knowledge (Wald χ² = 13.80, p < .001) and IBD-related pregnancy anxiety (Wald χ² = 8.61, p = .003). Qualitative data analysis revealed the following themes: (1) improving confidence in IBD management and awareness for planned pregnancy; (2) improving IBD awareness related to pregnancy and childbirth; and (3) relieving anxiety about and actively facing pregnancy. CONCLUSION: This study is meaningful in that, to the best of our knowledge, it is the first to develop a pre-conception care program for women diagnosed with IBD and confirm its effectiveness. Furthermore, this program is expected to be suitable for patient counseling and education in clinical practice.

Association Between Periconceptional Diet Quality and Hypertensive Disorders of Pregnancy: The Japan Environment and Children's Study.

BACKGROUND: Little is known about the relationship of healthy diets, which are widely recommended to prevent diseases in general populations, with the risk of hypertensive disorders of pregnancy (HDP), particular among non-Western populations with different dietary habits. We aimed to investigate the association between periconceptional diet quality and the risk of HDP among pregnant Japanese women. METHODS AND RESULTS: Dietary intake over 1 year before the first trimester of pregnancy was assessed using a validated, self-administered food frequency questionnaire among 81 113 pregnant Japanese women who participated in a prospective cohort of the Japan Environment and Children's Study. Overall diet quality was assessed by the Balanced Diet Score (BDS) based on adherence to the country-specific dietary guidelines and the Dietary Approaches to Stop Hypertension (DASH) score. Cases of HDP were identified by medical record transcription. The association between diet quality and HDP risk was examined using Bayesian logistic regression models with monotonic effects. We identified 2383 (2.9%) cases of HDP. A higher BDS was associated with a lower risk of HDP. When comparing the highest with the lowest quintile of the BDS, the adjusted odds ratio (aOR) of HDP was 0.83 (95% credible interval [CrI], 0.73-0.94). The DASH score and HDP risk were inversely associated in a monotonic dose-response manner (aOR per 1-quintile increase in the DASH score, 0.92 [95% CrI, 0.89-0.95]). CONCLUSIONS: A high-quality diet, which is recommended for disease prevention in general populations, before conception may also reduce the risk of HDP among pregnant Japanese women.

AGA Clinical Practice Update on Pregnancy-Related Gastrointestinal and Liver Disease: Expert Review.

DESCRIPTION: The purpose of this American Gastroenterological Association (AGA) Institute Clinical Practice Update is to review the available published evidence and expert advice regarding the clinical management of patients with pregnancy-related gastrointestinal and liver disease. METHODS: This expert review was commissioned and approved by the AGA Institute Clinical Practice Updates Committee and the AGA Governing Board to provide timely guidance on a topic of high clinical importance to the AGA membership and underwent internal peer review by the Clinical Practice Updates Committee and external peer review through the standard procedures of Gastroenterology. This article provides practical advice for the management of pregnant patients with gastrointestinal and liver disease based on the best available published evidence. The Best Practice Advice statements were drawn from a review of the published literature and from expert opinion. Because formal systematic reviews were not performed, these Best Practice Advice statements do not carry formal ratings regarding the quality of evidence or strength of the presented considerations. Best Practice Advice Statements BEST PRACTICE ADVICE 1: To optimize gastrointestinal and liver disease before pregnancy, preconception and contraceptive care counseling by a multidisciplinary team should be encouraged for reproductive-aged persons who desire to become pregnant. BEST PRACTICE ADVICE 2: Procedures, medications, and other interventions to optimize maternal health should not be withheld solely because a patient is pregnant and should be individualized after an assessment of the risks and benefits. BEST PRACTICE ADVICE 3: Coordination of birth for a pregnant patient with complex inflammatory bowel disease, advanced cirrhosis, or a liver transplant should be managed by a multidisciplinary team, preferably in a tertiary care center. BEST PRACTICE ADVICE 4: Early treatment of nausea and vomiting of pregnancy may reduce progression to hyperemesis gravidarum. In addition to standard diet and lifestyle measures, stepwise treatment consists of symptom control with vitamin B6 and doxylamine, hydration, and adequate nutrition; ondansetron, metoclopramide, promethazine, and intravenous glucocorticoids may be required in moderate to severe cases. BEST PRACTICE ADVICE 5: Constipation in pregnant persons may result from hormonal, medication-related, and physiological changes. Treatment options include dietary fiber, lactulose, and polyethylene glycol-based laxatives. BEST PRACTICE ADVICE 6: Elective endoscopic procedures should be deferred until the postpartum period, whereas nonemergent but necessary procedures should ideally be performed in the second trimester. Pregnant patients with cirrhosis should undergo evaluation for, and treatment of, esophageal varices; upper endoscopy is suggested in the second trimester (if not performed within 1 year before conception) to guide consideration of nonselective ß-blocker therapy or endoscopic variceal ligation. BEST PRACTICE ADVICE 7: In patients with inflammatory bowel disease, clinical remission before conception, during pregnancy, and in the postpartum period is essential for improving outcomes of pregnancy. Biologic agents should be continued throughout pregnancy and the postpartum period; use of methotrexate, thalidomide, and ozanimod must be stopped at least 6 months before conception. BEST PRACTICE ADVICE 8: Endoscopic retrograde cholangiopancreatography during pregnancy may be performed for urgent indications, such as choledocholithiasis, cholangitis, and some cases of gallstone pancreatitis. Ideally, endoscopic retrograde cholangiopancreatography should be performed during the second trimester, but if deferring the procedure may be detrimental to the health of the patient and fetus, a multidisciplinary team should be convened to decide on the advisability of endoscopic retrograde cholangiopancreatography. BEST PRACTICE ADVICE 9: Cholecystectomy is safe during pregnancy; a laparoscopic approach is the standard of care regardless of trimester, but ideally in the second trimester. BEST PRACTICE ADVICE 10: The diagnosis of intrahepatic cholestasis of pregnancy is based on a serum bile acid level >10 µmol/L in the setting of pruritus, typically during the second or third trimester. Treatment should be offered with oral ursodeoxycholic acid in a total daily dose of 10-15 mg/kg. BEST PRACTICE ADVICE 11: Management of liver diseases unique to pregnancy, such as pre-eclampsia; hemolysis, elevated liver enzymes, and low platelets syndrome; and acute fatty liver of pregnancy requires planning for delivery and timely evaluation for possible liver transplantation. Daily aspirin prophylaxis for patients at risk for pre-eclampsia or hemolysis, elevated liver enzymes, and low platelets syndrome is advised beginning at week 12 of gestation. BEST PRACTICE ADVICE 12: In patients with chronic hepatitis B virus infection, serum hepatitis B virus DNA and liver biochemical test levels should be ordered. Patients not on treatment but with a serum hepatitis B virus DNA level >200,000 IU/mL during the third trimester of pregnancy should be considered for treatment with tenofovir disoproxil fumarate. BEST PRACTICE ADVICE 13: In patients on immunosuppressive therapy for chronic liver diseases or after liver transplantation, therapy should be continued at the lowest effective dose during pregnancy. Mycophenolate mofetil should not be administered during pregnancy.

The Association Between ACE Score and Having Pre-Pregnancy Health Conversations with a Healthcare Provider (2016-2020).

OBJECTIVES: Adverse Childhood Experiences (ACEs) increase health risks leading to negative pregnancy outcomes, thus prompting the need for preconception care to address these risks. The aim of this study is to assess the association between ACEs score and self-report of having pre-pregnancy health conversations with a healthcare provider. METHODS: Secondary analysis of PRAMS data from 2016 to 2020 was performed from 3 states and Washington, DC. ACEs score was categorized as 0 (low risk), 1-3 (intermediate risk), and ≥ 4 (high risk). Pre-pregnancy health conversations were measured using reports of being asked about the desire to have children, use birth control to prevent pregnancy, and/or improve health during any visit in the 12 months prior to pregnancy. Multivariate Poisson Regression was performed to adjust for potential confounders: age, race/ethnicity, income, education, insurance type, marital status, pregnancy intention, and parity. RESULTS: A total of 10,448 PRAMS survey responses from 2016 to 2020 were included in the analysis. More than half of women reported having at least 1 ACE (51%). Those with an ACE score of ≥ 4 had 1.19 (95% CI: 1.01-1.41) times higher adjusted Prevalence Ratio (aPR) and those with an ACE score of 1-3 had about the same aPR 1.00 (95% CI: 0.93-1.09) of reporting pre-pregnancy health conversations with a healthcare provider compared to those with no ACEs. CONCLUSIONS FOR PRACTICE: The overall low percentage of respondents reporting receipt of pre-pregnancy health conversations with a health care provider indicates the need for these conversations to be had on a more routine basis.

What Does 'Preconception Health' Mean to People? A Public Consultation on Awareness and Use of Language.

INTRODUCTION: There is growing scientific and policy recognition that optimising health before a potential pregnancy (preconception health) improves reproductive outcomes and the lifelong health of future children. However, public awareness on this topic is low. We conducted a public consultation to develop language recommendations and identify and prioritise approaches to inform research and improve public awareness of preconception health. METHODS: A public consultation was undertaken with people of any gender aged 18-50 years living in the United Kingdom who were not currently expecting a child. Public contributors were recruited through patient and public involvement, community and support groups, an existing cohort study, and an LGBTQ+ charity. An initial round of online group discussions (February/March 2021) explored public contributors' knowledge of preconception health, their recommendations for appropriate language, and ideas about public health approaches. In a subsequent discussion round (May 2021), language recommendations were refined and suggested approaches prioritised. Discussions were summarised based on notes taken by two researchers. RESULTS: Fifty-four people joined the initial discussion round (66% women, 21% men, 13% nonbinary or transgender; 55% aged 18-30 years, 30% 31-40 years, 15% 41-50 years). Of these, 36 people (67%) participated in the subsequent round. Very few had heard the term 'preconception health', understood what it means, or why and for whom it is important. They recommended avoiding unfamiliar terms without further explanation (e.g., preconception health, medical terms), using language that is positive, encouraging and gender-sensitive where possible, and using messages that are specific, nonjudgmental and realistic. The phrases 'health and well-being during the childbearing years', 'health and well-being before pregnancy and parenthood' and 'planning for parenthood' resonated with most public contributors. School-based education, social media campaigns and the National Health Service emerged as priority approaches/settings for raising awareness. CONCLUSION: This public consultation produced recommendations from a diverse group of people of reproductive age in the United Kingdom to improve language and prioritise approaches that increase public understanding of preconception health in ways that are relevant and appropriate to them. This should begin in schools and will require adaptation of curricula, alongside co-development of public awareness campaigns and guidance for healthcare professionals. PATIENT OR PUBLIC CONTRIBUTION: This public consultation included a diverse group of members of the public. They were not involved in the original design of the project, but following the initial round of online group discussions, they contributed to the interpretation and refinement of the emerging concepts in a subsequent round of group meetings. After the consultation activity, public contributors formed a Public Advisory Group and have subsequently been involved in other studies on the same topic. Two public contributors (E.R. and F.F.) provided critical input in the preparation and revision of this manuscript and are co-authors of the paper.

Dietary folic acid intake, 13 genetic variants and other factors with red blood cell folate concentration in pregnancy-preparing population.

PURPOSE: This study aims to evaluate a combined effect of dietary folic acid intake, multiple genetic polymorphisms in folate metabolism, and other environmental factors on red blood cell (RBC) folate concentration in pregnancy-preparing population. METHODS: 519 pregnancy-preparing subjects (260 couples) were investigated. Dietary intake was measured by 3-day dietary recalls. 13 Single Nucleotide polymorphisms (SNPs) reported in association with one-carbon metabolism including the methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C were genotyped. RBC folate concentration was measured using chemiluminescence assay. Hierarchical regression was applied for covariate selection. Factors showed significance(p < 0.0125) on RBC folate level was included for prediction model construction and R2 estimation. Validation cohort analysis was performed as post-hoc analysis if applicable. RESULTS: The median RBC folate was 212.8 ng/ml. Only 10% took folic acid supplementation within three months. Based on hierarchical selection, folic acid supplementation, genetic polymorphism (especially TT genotype of MTHFR C677T), serum folate level were determinants of the variance of RBC folate concentrations, with adjusted R2 of 0.178-0.242. MTHFR A1298C polymorphism, sex difference with other socio-demographic and lifestyle factors (age, BMI, alcohol drinking, smoking, education, occupation) explained little to change in RBC folate level. Validation in another sub-cohort(n = 8105) had adjusted R2 of 0.273. CONCLUSION: In pregnancy-preparing subjects, folic acid supplementation, serum folate level and TT allele of MTHFR C677T polymorphism were determinants of the total variance of RBC folate level, which explained 19.8% variance in our subjects and 27.3% in the validation cohort. Food folate intake, sex and other environmental factors explained little to RBC folate level.

Advancing geospatial preconception health research in primary care through medical informatics and artificial intelligence.

Established life course approaches suggest that health status in adulthood can be influenced by events that occurred during the prenatal developmental period. Yet, interventions such as diet and lifestyle changes performed during pregnancy have had a small impact on both maternal and offspring health outcomes. Currently, there is a growing body of literature that highlights the importance of maternal health before conception (months or years before pregnancy occurs) for the future health of offspring. While some studies have explored factors such as maternal body composition, nutrition, and lifestyle in this area, location-based environmental and socioeconomic exposures before conception may also contribute to future offspring health. In this line, the study of a patient's geographic history presents a promising avenue. To foster research in this direction, the integration of geospatial health, medical informatics and artificial intelligence techniques offers great potential. Importantly, novel sources of big health data sets such as electronic health records registered at the primary care level provide a unique framework due to its inherent longitudinal nature. Nonetheless, a number of privacy, ethical, and technical challenges need to be overcome for this kind of longitudinal analysis to mature and succeed. In the long-term, we support the vision of incorporating a patient's geographic history into her clinical history to equip clinicians with useful contextual information to explore.

Preconception care use and associated factors among HIV positive reproductive age women attending ART clinics at public hospitals in the Hadiya zone, southern Ethiopia: a mixed method approach.

BACKGROUND: Globally, the HIV pandemic makes preconception care even more crucial due to the additional risks for sexual and vertical transmission of HIV. However, there is limited evidence on the utilization of preconception care among high-risk women in Ethiopia. The purpose of this research is to assess preconception care utilization and associated factors among HIV-positive women of reproductive age who attend ART clinics in public hospitals in the Hadiya zone of Southern Ethiopia in 2023. METHODS: A cross-sectional study design employing a mixed methods approach was used among 297 study participants from July 1-Semptember 1, 2022. Data were collected by pretested structured questionnaires. The data were analyzed by SPSS statistical software version 25. Logistic regression, Adjusted Odds Ratio (AOR) with a 95% confidence interval was computed, and variables with a p-value < 0.05 were considered statistically significant. Qualitative data were analyzed using open code version 4.03. RESULTS: This study revealed that 19.9% (95%Cl: 15.4, 24.2) of study participants use preconception care. Women's autonomy (AOR = 3.65; 95% CI: 1.14, 11.68;P = 0.03), knowledge of PCC (AOR = 3.05; 95% CI: 1.13, 8.22; P = 0.001), getting family/husband support (AOR = 4.06; 95% CI: 1.56, 10.53;P = 0.022), discussions with healthcare providers (AOR = 5.60; 95% CI: 2.26, 13.90;P = 0.002), availability of room for PCC (AOR = 3.77; 95% CI: 1.38, 10.31;P = 0.009), getting all laboratory services (AOR = 4.19; 95% CI: 1.61, 10.94; P = 0.002), and history of medical problems (AOR = 2.94; 95% CI: 11.01, 8.62;P = 0.036) were significantly associated with PCC use. CONCLUSION: The level of PCC use in the current study area is low. Women's autonomy, knowledge of PCC, obtaining support from family or husband, engaging in discussions with healthcare providers, having access to a PCC room, access to all laboratory services, and having a history of medical problems are significantly associated with PCC use. Our findings suggest integrating PCC into routine HIV care, boosting women's autonomy, and integrating family support with healthcare providers.

Determining behavioral intention and its predictors toward preconception care use among reproductive age women in Arba Minch town, Southern Ethiopia, 2022: a cross-sectional study based on the theory of planned behavior.

BACKGROUND: Preconception care is a highly effective, evidence-based intervention aimed at promoting the health of reproductive-age women and reducing adverse pregnancy-related outcomes. The Ethiopian Ministry of Health plans to integrate preconception care services into the country's existing healthcare system. However, women's preferences may be influenced by their values and customs. Therefore, this study used the theory of planned behavior to assess women's intention toward preconception care use and its predictors among reproductive-age women in Arba Minch town, southern Ethiopia. METHODS: A community-based cross-sectional study was conducted in Arba Minch town from May 1 to 30, 2022. A simple random sampling technique was employed to select 415 study participants for data collection. Data were collected through a face-to-face interview using a pretested, structured questionnaire. Epi Data version 4.6 and SPSS version 26 were used for the entry and analysis of data, respectively. Multiple linear regression was performed to identify independent predictors of intention to use preconception care. The standardized ß-coefficient was used as a measure of association. A P value of less than 0.05 was used to declare statistical significance. RESULTS: This study had 415 participants, giving a response rate of 98.3%. The mean age of the participants was 28.4 (SD 5.18). The mean intention to use preconception care was 21.43 (SD 2.47). Direct perceived behavioral control (ß = 0.263, p < 0.001), direct attitude (ß = 0.201, p = 0.001), direct subjective norm (ß = 0.158, p = 0.006), and age (ß=-0.115, p = 0.023) were significant predictors of women's behavioral intention to use preconception care. CONCLUSION: The study identified perceived behavioral control as the strongest predictor, followed by attitude and subjective norms, influencing the intention to use preconception care. These findings underscore the importance of integrating these predictors into health intervention programs aimed at promoting the implementation of preconception care services.

Preconception counseling impact in pregnancy outcomes in patients with spondyloarthritis.

INTRODUCTION: Spondyloarthritis (SpA) is a group of chronic inflammatory diseases, often affecting women in reproductive age. These diseases can have a significant impact on the reproductive health of women. Preconception counseling and medication adjustments have shown to reduce flares and improve pregnancy outcomes in women with rheumatoid arthritis. However, in women with SpA data of the impact of preconception counselling on pregnancy outcomes is scarce. The aim of this study is to evaluate that. METHODS: In this retrospective multicentric study, data was collected from medical records of women who gave birth from 2020 to 2022. The study included 45 pregnancies, which were divided into two categories whether they received preconception consultation or not. Data was collected on patient characteristics, disease duration, medications used, and preconception counselling. Outcomes were divided into two groups: maternal and fetal outcomes. RESULTS: 30 out of 45 pregnancies (66.67%) had received preconception counselling, having a significantly lower percentage of flares occurring postpartum compared to the non-counselling group (36.6% vs 6.4%, p=0.031) and lower percentage of contraindicated medication during pregnancy (20.0 vs 0.0%, p=0.011). CONCLUSION: Preconception counselling in women with SpA can increase the likelihood of medication adjustments before pregnancy and decrease the occurrence of flares postpartum. These findings suggest that preconception counselling should be implemented in the management of pregnant women with SpA to improve pregnancy outcomes. Further studies are needed to confirm the effectiveness of preconception counselling and to determine the optimal approach.

Periconceptional maternal supplement intake and human embryonic growth, development, and birth outcomes: the Rotterdam Periconception Cohort.

STUDY QUESTION: Is periconceptional multiple-micronutrient supplement (MMS) use including folic acid (FA) compared to FA use only associated with increased embryonic growth, development, and birth weight in a high-risk population? SUMMARY ANSWER: Women with MMS intake show no significant differences in first-trimester morphological embryo development, but increased first-trimester embryonic growth trajectories and fewer neonates born small for gestational age (SGA), less than the 3rd percentile (

Association between preconception body mass index and fertility in adult female: A systematic review and meta-analysis.

Obesity potentially reduces fertility, but systematic reviews are lacking to summarize the existing literature. Therefore, we systematically summarized the association between preconception body mass index (BMI) and fertility in adult female based on existing reports. Up to September 2023, we conducted literature retrievals in different databases, including Web of Science, PubMed, Wiley, and ScienceDirect. Finally, 18 studies were included. Female with overweight/obesity (FOR = 0.85; 95% CI: 0.80, 0.90), obesity (FOR = 0.76; 95% CI: 0.69, 0.83), and overweight (FOR = 0.93; 95% CI: 0.88, 0.99) was associated with the significant time-to-pregnancy (TTP) prolongation (reduced fecundability). Interestingly, underweight was moderately associated with prolonged TTP in females (FOR = 0.95; 95% CI: 0.91, 0.99). Female overweight/obesity was associated with an increased risk of subfecundity (OR = 1.44; 95% CI: 1.20, 1.72) and infertility (OR = 1.60, 95% CI: 1.31-1.94). The findings emphasize the importance of considering appropriate preconception BMI at the population level for female fertility outcomes. In particular, prepregnancy obesity in females is strongly associated with prolonged TTP and increased risk of subfecundity. Scientific management of preconception BMI may improve fertility.

Antenatal reproductive screening for pregnant people including preconception: Provides the best reproductive opportunity for informed consent, quality, and safety.

INTRODUCTION: This antenatal screening review will include reproductive screening evidence and approaches for pre-conception and post-conception, using first to third trimester screening opportunities. METHODS: Focused antenatal screening peer-reviewed publications were evaluated and summarized. RESULTS: Evidenced-based reproductive antenatal screening elements should be offered and discussed, with the pregnancy planning or pregnant person, during Preconception (genetic carrier screening for reproductive partners, personal and family (including reproductive partner) history review for increased genetic and pregnancy morbidity risks); First Trimester (fetal dating with ultrasound; fetal aneuploidy screening plus consideration for expanded fetal morbidity criteria, if appropriate; pregnant person preeclampsia screening; early fetal anatomy screening; early fetal cardiac screening); Second Trimester for standard fetal anatomy screening (18-22 weeks) including cardiac; pregnant person placental and cord pathology screening; pregnant person preterm birth screening with cervical length measurement); Third Trimester (fetal growth surveillance; continued preterm birth risk surveillance). CONCLUSION: Antenatal reproductive screening has multiple elements, is complex, is time-consuming, and requires the use of pre- and post-testing counselling for most screening elements. The use of preconception and trimesters 'one to three' requires clear patient understanding and buy-in. Informed consent and knowledge transfer is a main goal for antenatal reproductive screening approaches.