Future Pregnancies Research Articles

Novel PATL2 variants cause female infertility with oocyte maturation defect.

Oocyte maturation defect (OOMD) is a rare cause of in vitro fertilization failure characterized by the production of immature oocytes. Compound heterozygous or homozygous PATL2 mutations have been associated with oocyte arrest at the germinal vesicle (GV), metaphase I (MI), and metaphase II (MII) stages, as well as morphological changes. In this study, we recruited three OOMD cases and conducted a comprehensive multiplatform laboratory investigation. Whole exome sequence (WES) revealed four diagnostic variants in PATL2, nonsense mutation c.709C > T (p.R237*) and frameshift mutation c.1486_1487delinsT (p.A496Sfs*4) were novel mutations that have not been reported previously. Furthermore, the pathogenicity of these variants was predicted using in silico analysis, which indicated detrimental effects. Molecular dynamic analysis suggested that the A496S variant disrupted the hydrophobic segment, leading to structural changes that affected the overall protein folding and stability. Additionally, biochemical and molecular experiments were conducted on cells transfected with wild-type (WT) or mutant PATL2 (p.R237* and p.A496Sfs*4) plasmid vectors. The results demonstrated that PATL2A496Sfs*4 and PATL2R237* had impacts on protein size and expression level. Interestingly, expression levels of specific genes involved in oocyte maturation and early embryonic development were found to be simultaneously deregulated. The findings in our study expand the variation spectrum of the PATL2 gene, provide solid evidence for counseling on future pregnancies in affected families, strongly support the application of in the diagnosis of OOMD, and contribute to the understanding of PATL2 function.

Best practices for hepatitis C linkage to care in pregnant and postpartum women: perspectives from the Treatment In Pregnancy for Hepatitis C Community of Practice

There is an increasing burden of hepatitis C virus among persons of reproductive age, including pregnant and breastfeeding women, in many regions worldwide. Routine health services during pregnancy present a critical window of opportunity to diagnose and link women with hepatitis C virus infection for care and treatment to decrease hepatitis C virus-related morbidity and early mortality. Effective treatment of hepatitis C virus infection in women diagnosed during pregnancy also prevents hepatitis C virus-related adverse events in pregnancy and hepatitis C virus vertical transmission in future pregnancies. However, linkage to care and treatment for women diagnosed in pregnancy remains insufficient. Currently, there are no best practice recommendations from professional societies to ensure appropriate peripartum linkage to hepatitis C virus care and treatment. We convened a virtual Community of Practice to understand key challenges to the hepatitis C virus care cascade for women diagnosed with hepatitis C virus in pregnancy, highlight published models of integrated hepatitis C virus services for pregnant and postpartum women, and preview upcoming research and programmatic initiatives to improve linkage to hepatitis C virus care for this population. Four-hundred seventy-three participants from 43 countries participated in the Community of Practice, including a diverse range of practitioners from public health, primary care, and clinical specialties. The Community of Practice included panel sessions with representatives from major professional societies in obstetrics/gynecology, maternal fetal medicine, addiction medicine, hepatology, and infectious diseases. From this Community of Practice, we provide a series of best practices to improve linkage to hepatitis C virus treatment for pregnant and postpartum women, including specific interventions to enhance colocation of services, treatment by nonspecialist providers, active engagement and patient navigation, and decreasing time to hepatitis C virus treatment initiation. The Community of Practice aims to further support antenatal providers in improving linkage to care by producing and disseminating detailed operational guidance and recommendations and supporting operational research on models for linkage and treatment. Additionally, the Community of Practice may be leveraged to build training materials and toolkits for antenatal providers, convene experts to formalize operational recommendations, and conduct surveys to understand needs of antenatal providers. Such actions are required to ensure equitable access to hepatitis C virus treatment for women diagnosed with hepatitis C virus in pregnancy and urgently needed to achieve the ambitious targets for hepatitis C virus elimination by2030.

The Effect of Progesterone Elevation on the Day of Trigger Administration: A Review of the Literature.

Since the advent of assisted reproductive technology, different variables have been shown to affect pregnancy outcomes. One of the most prevalent studied events is the premature rise in serum progesterone concentrations on the day of trigger administration during cycles of ovarian stimulation. This phenomenon, classically known as premature luteinization, has been observed significantly for decades and has been linked to adverse pregnancy outcomes and lower live birth rates. Ultimately, a quest to find a precise serum progesterone concentration cut-off value that can be effectively used to predict pregnancy outcomes prior to trigger administration is still underway. The purpose of the current research was to study the available literature on the relationship between serum progesterone on the day of trigger administration in controlled ovarian stimulation cycles used for IVF in an attempt to identify a cut-off serum progesterone concentration that can be used to effectively predict future pregnancy outcomes in fresh transfers. This study is a review of the literature and is based on information and data gathered from 36 published articles. The majority of the literature shows that a serum progesterone concentration cut-off of 1.5 ng/ml (4.77 nmol/L) can be used prior to trigger administration to effectively predict pregnancy outcomes. Premature progesterone elevation on the day or prior to the trigger administration is associated with adverse pregnancy outcomes in IVF cycles. Other factors such as follicle number, serum concentration of other hormones, and ovarian response to ovarian stimulation should also be considered to predict the success of IVF protocols.

Transvaginal radiofrequency ablation of a myoma in 10 key steps

To describe transvaginal radiofrequency ablation of myomas (TRAM) in 10 key steps. Video article. University hospital. A 38-year-old woman presented with menometrorrhagia and consequent chronic anemia (hemoglobin 8.5 g/dL) caused by a cervical myoma measuring 51 cm3. Initially, a cervicovaginal embolization was performed, but without any improvement in symptoms. Given the complex position of the myoma (close proximity to the uterine arteries), as well as the patient's desire for future pregnancies, a TRAM was proposed. Not applicable. Volume of myoma and menometrorrhagia 6 months after treatment. Not applicable. Transvaginal radiofrequency ablation of myomas is a quick, simple, minimally invasive, and easily reproducible technique. It could be an interesting alternative to the conventional laparoscopic and open-surgical treatments of myomas. There is a lack of high-quality data establishing TRAM safety in infertility and pregnancy. The only available radiofrequency ablation device in the United States has specific language stating that this procedure is not recommended for women considering future pregnancy.

Preconception indicators and associations with health outcomes reported in UK routine primary care data: a systematic review.

Routine primary care data may be a valuable resource for preconception health research and informing provision of preconception care. To review how primary care data could provide information on the prevalence of preconception indicators and examine associations with maternal and offspring health outcomes. Systematic review of observational studies using UK routine primary care data. Literature searches were conducted in five databases (March 2023) to identify observational studies that used national primary care data from individuals aged 15-49 years. Preconception indicators were defined as medical, behavioural and social factors that may impact future pregnancies. Health outcomes included those that may occur during and after pregnancy. Screening, data extraction and quality assessment were conducted by two reviewers. From 5,259 records screened, 42 articles were included. The prevalence of 30 preconception indicators was described for female patients, ranging from 0.01% for sickle cell disease to >20% for each of advanced maternal age, previous caesarean section (among those with a recorded pregnancy), overweight, obesity, smoking, depression and anxiety (irrespective of pregnancy). Few studies reported indicators for male patients (n=3) or associations with outcomes (n=5). Most studies had low risk of bias, but missing data may limit generalisability. Findings demonstrate that routinely collected UK primary care data can be used to identify patients preconception care needs. Linking primary care data with health outcomes collected in other datasets is underutilised but could help quantify how optimising preconception health and care can reduce adverse outcomes for mothers and children.

The Uptake of Partner Participation in Sequential Preconception Carrier Screening

Introduction: Carrier screening that is performed in the preconception period allows for couples at risk for having children affected with certain single gene (Mendelian) conditions to be identified. This is the most optimal timeframe to perform such screening. Most obstetric providers utilize a sequential process in which the patient first undergoes screening and their partner is only offered testing if the initial results reveal that the first is a carrier for one or more autosomal recessive (AR) deleterious variants. If the partner fails to undergo screening, the couple cannot obtain meaningful and actionable risk information for future or current pregnancies. In this study, we sought to assess the frequency of completed carrier screening risk assessment among individuals and couples who were undergoing preconception screening at two prenatal screening programs staffed by genetic counselors and geneticists. Materials and Methods: We reviewed the screening outcomes for individuals and couples who presented for preconception carrier screening from January 1, 2020 through December 30, 2021 at Insight Medical Genetics and the clinical genetics program at Northwestern Medicine. All individuals received pretest genetic counseling prior to screening and posttest counseling after results were available. We evaluated individuals who were found to be a carrier of at least one deleterious variant and whether the partner of that person underwent carrier screening, and, if so, which type of screening. Results: 548 patients who identified as women underwent preconception carrier screening during the study period, along with 3 men presenting for initial screening. These screens consisted of a panel containing primarily autosomal recessive conditions with a few X-linked conditions. 247 individuals (45.1%) were positive for at least one pathogenic variant; of these, 244 (98.8%) were variants in genes associated with autosomal recessive conditions. A total of 219 partners (88.7%) underwent carrier screening, including the 3 female partners of the men who initiated carrier screening. Of note, 4 of the patients who underwent carrier screening reported not having a partner at the time of screening; accordingly, the partners who underwent screening represent 89.8% of individuals eligible for partner screening following an initial positive result. Of the 219 partners who underwent carrier screening, 201 (91.8%) chose a carrier screening panel of 150+ conditions, while 18 chose a more limited panel that included the gene(s) of relevance based on their partner’s results, with or without additional genes relevant to their learned/self-identified ethnicity or race. Conclusions: Approximately 10% of couples presenting for preconception genetic counseling and carrier screening found to be at potential risk for a child with an autosomal recessive condition did not obtain the requisite information to fully assess their risk of having an affected child. It is possible that the frequency of couples who do not obtain complete and actionable screening information is even higher when carrier screening is provided without the assistance of certified genetic counselors or geneticists. Recently, cell free DNA-based maternal screening has been introduced that assesses the risk for a limited number of genetic conditions in the fetus that may not require assessment of the partner. Nonetheless, providers must communicate to their patients that meaningful risk information can only be obtained when the partner undergoes screening in cases where the initial member of the couple is found to be a carrier of at least one autosomal recessive condition. Laboratories and professional societies need to develop effective educational outreach to patients and providers alike to improve the screening process for couples who want to determine if they are at risk to have a child with an inherited condition.

Порівняльний аналіз клінічної ефективності і безпечності сучасних методів артифіційного переривання вагітності в ранніх термінах. Результати когортного дослідження

WHO experts have determined that medical abortion and vacuum aspiration are currently safe methods of terminating an unintended pregnancy in the first trimester. Aim - to conduct a comparative analysis of the clinical effectiveness and safety of modern methods of early artificial abortions. Materials and methods. An analysis of early and late complications of early abortion was carried out in 54 women with medical abortion using mifepristone and misoprostol (group I) and 65 respondents after abortion by vacuum aspiration (group II). Statistical data processing was carried out using the SPSS 21 program. Results. The frequency of fetal egg retention, pregnancy progression, abnormal uterine bleeding, and endometrial polyps was significantly higher after medical abortion, and endometritis - after vacuum aspiration. Women who underwent medical abortion compared to termination of pregnancy by vacuum aspiration have a 2.3 and 3.6 times lower risk of placental complications and the threat of termination of future pregnancy (odds ratio (OR): 0.28; 95% confidence interval (95% CI): 0.12-0.64 and OR: 0.24; 95% CI: 0.06-0.88), as well as cesarean delivery (OR: 0.34; 95% CI: 0.14-0.84). Conclusions. The effectiveness of the medical method of early termination of pregnancy was 90.7%, vacuum aspiration - 98.5%, which is a relatively safe alternative to surgical abortion. This study did not involve any experiments on animals or humans. No conflict of interests was declared by the authors.

Professionals' views on providing personalized recurrence risks for de novo mutations: Implications for genetic counseling.

When an apparent de novo (new) genetic change has been identified as the cause of a serious genetic condition in a child, many couples would like to know the risk of this happening again in a future pregnancy. Current practice provides families with a population average risk of 1%-2%. However, this figure is not accurate for any specific couple, and yet, they are asked to make decisions about having another child and/or whether to have prenatal testing. The PREcision Genetic Counseling And REproduction (PREGCARE) study is a new personalized assessment strategy that refines a couple's recurrence risk prior to a new pregnancy, by analyzing several samples from the parent-child trio (blood, saliva, swabs, and father's sperm) using deep sequencing and haplotyping. Overall, this approach can reassure ~2/3 of couples who have a negligible (<0.1%) recurrence risk and focus support on those at higher risk (i.e. when mosaicism is identified in one of the parents). Here we present a qualitative interview study with UK clinical genetics professionals (n = 20), which investigate the potential implications of introducing such a strategy in genetics clinics. While thematic analysis of the interviews indicated perceived clinical utility, it also indicates a need to prepare couples for the psychosocial implications of parent-of-origin information and to support their understanding of the assessment being offered. When dealing with personalized reproductive risk, a traditional non-directive approach may not meet the needs of practitioner and client(s) and shared decision-making provides an additional framework that may relieve some patient burden. Further qualitative investigation with couples is planned.

Prenatal diagnosis of hydranencephaly: a clinical case

Hydranencephaly is a rare abnormality of the central nervous system (CNS) of the fetus, in which the cerebral hemispheres are absent and replaced with cerebrospinal fluid, while the structures of the posterior fossa, thalami and falx cerebri remains normal. The ischemic, hemorrhagic complications, infection of the fetus, the toxic effects of carbon monoxide, butane and genetic abnormalities are potential causes of a hydranencephaly development. The article presents the modern data on the possible causes of the hydranencephaly development, and clinical case of prenatal ultrasound diagnosis of hydranencephaly at 28–29 weeks of gestation, highlighting a specific ultrasound signs of this pathology. The management strategy and genetic testing recommendations are described. The difficulties of differential diagnosis and the key signs of similar disorders are discussed, as well as recommendation for future pregnancy planning.

Genetics of bilateral pediatric cataract in the Israeli and Palestinian populations

PurposeBilateral pediatric cataract (BPC) is one of the most common causes of childhood visual impairment and blindness worldwide. A significant percentage of pediatric cataracts are caused by genetic alterations. We aim to characterize the set of genes and variants that cause BPC in the Israeli and Palestinian populations and to assess genotype-phenotype correlation.MethodsRetrospective study in a multidisciplinary center for visual impairment, located in a tertiary medical center. Medical charts of families who underwent genetic counseling because of BPC in a family member were reviewed. Clinical characteristics and genetic tests results were obtained from medical records of affected subjects.ResultsTwenty-two families (47 patients) underwent genetic counseling and completed genetic testing. Causative variants were identified in 18/22 (81.8%) of the families, including 3 novel variants. Genetic testing used included mainly panel for congenital cataracts and whole exome sequencing. Eleven families performed genetic testing with the intention of future pregnancy planning. Main causative genes identified were crystalline genes followed by transcription factor genes. BCOR gene variants were associated with persistent fetal vasculature (PFV) cataract in two of three families.ConclusionsCombined molecular techniques are useful in identifying variants causing pediatric cataracts and showed a high detection rate in our population. BCOR gene variants might be associated with PFV type of cataracts. The study of pathogenic variants may aid in family planning and prevention of pediatric cataracts in future pregnancies. Additionally, in certain cases, it assists in diagnosing non-suspected syndromic types of pediatric cataracts.

Prenatal exome sequencing for morphologically normal fetus: Should we be doing it?

We aimed to investigate the yield of prenatal exome sequencing (pES) in morphologically normal fetuses. This retrospective study analyzed 254 families with morphologically normal fetuses who underwent prenatal trio exome sequencing based on parental request between September 2020 and October 2023. Overall, abnormal findings were detected in 8 families (3.1%, 8/254) by pES. Among these, 6 families (2.3%, 6/254) were found to have fetuses affected with monogenic disorders (2 autosomal recessive conditions and 4 autosomal dominant conditions), while 2 families (0.8%, 2/254) were incidentally found to be couples at risk of having a future pregnancy with a recessive condition. Among the six fetuses detected with monogenic disorders, two fetuses carried a de novo variant in OPA1 and NF1, which are known to cause Optic atrophy 1 and Neurofibromatosis, respectively. One fetus was detected with a maternally inherited variant in PKD2 related to polycystic kidney disease 2 (not known to the mother until then). One fetus was detected with a maternally inherited variant in SDHB associated with Pheochromocytoma. Two fetuses carried compound heterozygous variants in NAGLU and GJB2 associated with Mucopolysaccharidosis type IIIB and Deafness, respectively. In the 2 families where parents were found to be carriers but the fetuses were unaffected, heterozygous variants in the GJB2 and SERPINB7 genes were detected in the parents, respectively, which are associated with deafness and palmoplantar keratoderma. Our research indicated that pES can provide significant critical information for families with morphologically normal fetuses. Prenatal screening with exome sequencing requires careful management and detailed pre-test and post-test genetic counseling.

Parental mosaicism rather than de novo variants in FOXG1‐related syndrome and TUBA1A‐associated Tubulinopathy: Familial case reports

AbstractBackgroundDe novo variations are a primary cause of Rett syndrome and Tubulinopathy, accounting for over 90% of cases. Some studies have identified and documented parental inheritance by mosaicism in these two disorders, albeit with limited data.MethodsClinical characteristics and diagnosis, including genetic tests of members of two families, were obtained from medical reports.ResultsThe first family with Rett syndrome (RTT) presented with two offspring carrying FOXG1 c.460dup. Both affected RTT pregnancies did not show anomalies within the first trimester, preventing prenatal recognition at an early stage. The second family had two of three offspring confirmed with TUBA1A c.172G&gt;A related to Tubulinopathy. Both young couples from the two families harbored none of the variants correlating to their children's conditions. Diagnosis of parental mosaics with higher rates of recurrence was reasonably determined, and genetic counseling played a major role in guiding and managing their subsequent pregnancies.ConclusionIn genetic disorders with a high penetration of de novo variants, the risk of having a recurrent baby is an important topic to discuss with affected families. By examining variants that siblings share, clinical diagnosis can offer valuable information about the presence of mosaic inheritance. To effectively manage in the long term, adequate genetic counseling and strategic planning for future pregnancies should be emphasized to mitigate the risk of recurrent offspring.

Fertility Preservation and Assisted Reproduction in Patients With Breast Cancer Interrupting Adjuvant Endocrine Therapy to Attempt Pregnancy.

We investigated time to pregnancy, efficacy and safety of fertility preservation, and assisted reproductive technologies (ARTs) in women with early hormone receptor-positive breast cancer (BC) desiring future pregnancy. POSITIVE is an international, single-arm, prospective trial, in which 518 women temporarily interrupted adjuvant endocrine therapy to attempt pregnancy. We evaluated menstruation recovery and factors associated with time to pregnancy and investigated if ART use was associated with achieving pregnancy. The cumulative incidence of BC-free interval (BCFI) events was estimated according to the use of ovarian stimulation at diagnosis. The median follow-up was 41 months. Two hundred seventy-three patients (53%) reported amenorrhea at enrollment, of whom 94% resumed menses within 12 months. Among 497 patients evaluable for pregnancy, 368 (74%) reported at least one pregnancy. Young age was the main factor associated with shorter time to pregnancy with cumulative incidences of pregnancy by 1 year of 63.5%, 54.3%, and 37.7% for patients age <35, 35-39, and 40-42 years, respectively. One hundred and seventy-nine patients (36%) had embryo/oocyte cryopreservation at diagnosis, of whom 68 reported embryo transfer after enrollment. Cryopreserved embryo transfer was the only ART associated with higher chance of pregnancy (odds ratio, 2.41 [95% CI, 1.75 to 4.95]). The cumulative incidence of BCFI events at 3 years was similar for women who underwent ovarian stimulation for cryopreservation at diagnosis, 9.7% (95% CI, 6.0 to 15.4), compared with those who did not, 8.7% (95% CI, 6.0 to 12.5). In POSITIVE, fertility preservation using ovarian stimulation was not associated with short-term detrimental impact on cancer prognosis. Pregnancy rates were highest among those who underwent embryo/oocyte cryopreservation followed by embryo transfer.

Impact of Prevalent Dietary Pattern on Serum Vitamin B12 Status and Its Association With Inflammation Among Reproductive Age Women.

Association between vitamin B12 deficiency (VB12D) and dietary patterns being well documented has bearing on obstetrics and neonatal outcomes. However, relationship between VB12D and serum inflammatory markers (IMs), particularly in vegetarian diet and Polycystic ovary syndrome (PCOS), remains elusive. This cross-sectional study assesses VB12D and IMs among reproductive age women consuming different diets. Nonvegetarian (PCOS, n = 104; healthy, n = 148) and vegetarian women (PCOS n = 112; healthy, n = 186) are for evaluated clinical, biochemical, hormonal assessment, inflammatory, and four vitamin B 12 (VB12) markers. VB12D is defined by Fedosov's wellness quotient (4cB12). Using 4cB12, prevalence of VB12D is discerned in 54.4% (PCOS: 72.1%; healthy 36.5%) and 93.4% (PCOS: 95.9%; healthy: 91.9%) among nonvegetarians and vegetarians, respectively. Vegetarian PCOS women depict lowest median (interquartile range [IQR]) of serum B12 76.2(72.6) pgmL-1, holotranscobalamine (HTC) 37.9(11.3) and highest homocysteine (HCY) 40.32(6.0) µmolL-1, methylmalonic acid (MMA) 352.26(156.7) nmolL-1 with highest Homeostatic Model Assessment for Insulin Resistance (HOMA-IR) and IMs (Monocyte chemoattractant protein 1 (MCP-1), High sensitivity C-reactive protein (hs-CRP), Tumour Necrosis Factor alpha (TNF-α)and Interleukin 6 (IL-6)). Significant correlation of serum hs-CRP, TNF-α, and IL-6 with VB12 markers is observed. The VB12D is rampant among reproductive age women that gets exacerbated by PCOS or vegetarian diet. It is directly correlated with magnitude of proinflammatory markers. The results carry substantial implications for public health policies aimed at improving preconception maternal VB12 status for better future pregnancy and offspring outcomes.

Ending an Odyssey? The Psychosocial Experiences of Parents after the Genetic Diagnosis of a Mitochondrial Disease in Children.

Obtaining a genetic diagnosis of a primary mitochondrial disease (PMD) is often framed as a diagnostic odyssey. Yet, even after receiving a diagnosis, parents of affected children experience ongoing therapeutic and prognostic uncertainty and considerable psychosocial challenges. Semi-structured interviews (N = 24) were conducted with parents of 13 children (aged 2-19 years) with a genetically confirmed PMD. Paternal (N = 11) and maternal (N = 13) perspectives were obtained, and thematic analysis was performed on all interviews. A genetic diagnosis was valuable and empowering for parents, despite eliciting varied emotional responses. While the diagnosis helped focus management decisions, families often felt overwhelmed and unsupported in navigating the healthcare system. Most parents reported a serious impact on their romantic relationship. The sources of social support varied, with a preference for established friendship and family support networks over disease-specific community support groups. Most parents favored prenatal genetic testing in the event of a future pregnancy. This study provides insight into the lived experiences of parents after a genetic diagnosis of PMD in their children. The findings draw awareness to supportive care needs and highlight important gaps that should be addressed to ensure that parents feel supported within a holistic framework of management for PMDs.

Transcervical Fibroid Ablation (TFA): Update on Pregnancy Outcomes.

Background/Objectives: Transcervical fibroid ablation (TFA) is an incisionless method to treat symptomatic uterine fibroids. While safety regarding future pregnancy remains to be established, TFA does not preclude the possibility of pregnancy, and a previous 36-patient case series of post-TFA pregnancies reported normal outcomes. That prior series did not include postmarket cases in the United States, as the Sonata® System was initially cleared and used in Europe. This is a substantive update of known pregnancies with the Sonata System since June 2011, and includes pregnancies in Europe, Mexico, and the US. Methods: TFA was carried out under both clinical trial and postmarket use to treat symptomatic uterine fibroids. All post-TFA pregnancies reported by physicians with their patient's consent were included. Results: 89 pregnancies and 55 deliveries have occurred among 72 women treated with the Sonata System. This includes 8 women who conceived more than once after TFA. Completed pregnancies (n = 62 women) include 19 vaginal deliveries, 35 Cesarean sections, 5 therapeutic abortions, 1 ectopic pregnancy, and 1 delivery by an unknown route. Ten pregnancies are ongoing. Mean birthweight was 3276.7 ± 587.3 g. Ten women experienced 18 first-trimester spontaneous abortions (SAbs), with 10 of the 18 SAbs (55.6%) occurring between two patients with a history of recurrent abortion. The SAb rate was 22.8%, inclusive of these two patients, and 10.1% if they were excluded as outliers. There were no instances of uterine rupture, placenta accreta spectrum, or stillbirth. Conclusions: This case series, the largest to date for any hyperthermic ablation modality, suggests that TFA with the Sonata System could be a feasible, safe treatment option regarding eventual pregnancy in women with symptomatic uterine fibroids.

Oh My GAD: Evaluating Anxiety in Current Pregnant Patients Who Have Had a Prior Termination Abortion [ID 2683438

INTRODUCTION: An estimated 31.1% of U.S. adults experience anxiety disorders at some point in their lives. Studies have shown that prior pregnancy loss such as miscarriage is associated with increased anxiety in future pregnancies. We aim to look at the effect of abortion on anxiety in future pregnancies carried to term. METHODS: This is a cross-sectional study in which current pregnant patients seeking obstetric care at the George Washington Medical Faculty Associates were surveyed via the BabyScripts application. The survey was sent out via the application and text message and included demographics, obstetric history, and the Generalized Anxiety Disorder-7 (GAD-7). The primary outcome was anxiety levels in patients who are currently pregnant and have previously undergone abortion. RESULTS: One hundred seventy-nine patients completed the survey thus far; the study is ongoing. Of these, 72 patients reported a history of anxiety. Race distribution between those with a history of anxiety versus those without were similar. Of those who have had a prior pregnancy, those with a history of abortion were more likely to have severe anxiety with a GAD-7 score greater than 15 in this current pregnancy (18.2% versus 4.5%; P=.01). CONCLUSION: Our study shows that multiparous patients who have had a prior abortion and are currently pregnant are more likely to have severe anxiety as compared to patients without a history of abortion. Patients who have experienced abortion therefore have specific needs for prenatal care that are currently unmet. Furthermore, as GAD-7 is not routinely administered in pregnancy, these patients may be underdiagnosed with anxiety that then goes untreated.

Role of L-type Ca2+ channels in the differential response to oxytocin of uteri from virgin and proven breeder rats

Introduction: The experience of pregnancy affects uterine function well beyond delivery. For instance, the likelihood of accelerated parturitions, spontaneous delivery, and risk of hemorrhage in future pregnancies is increased with parity. While epidemiological evidence for these phenomena is abundant, mechanistic explanations of these and other changes are still being investigated. We previously demonstrated that the response to oxytocin is more robust in the uteri of proven breeder rats and that T-type calcium channels, although slightly more expressed in proven breeder samples had a rather limited impact in this mechanism. Hypothesis: Here, we tested the hypothesis that voltage gated L-type calcium channels contribute more significantly than T-type calcium channels in the differential response to oxytocin in the myometrium from virgin (V) and proven breeder (PB) rats. Methods: V and PB non pregnant female 18-week-old rats were euthanized at proestrus. Uterine strips were suspended in a tissue bath containing Krebs solution (in mM, NaCl 117, KCl 4.7, NaHCO3 25, MgCl2 1.2, KH2PO4 1.2, CaCl2 2.5, glucose 11, pH= 7.4) at 37°C in 95% O2 and 5% CO2. Dose response curves to the L-type calcium channel blocker Verapamil (10E-8 to 10E-5 M) and dose responses to oxytocin in the presence of either 10 E-6 or 10E-5 Verapamil were recorded. Area under the curve, frequency, amplitude, and duration of contractions were measured. L-type channels expression was evaluated with qRT-PCR. T-tests and ANOVA two ways were used for statistical analysis. Results: Compared to control, both doses of Verapamil suppressed 100% of spontaneous and 50% of oxytocin-evoked contractility in V and PB samples. The maximal response to oxytocin was significantly stronger in PB than in V (p&lt;0.001). Thus, blocking L-type Ca2+ channels does not alter the differential response to oxytocin observed in the absence of verapamil. The difference in Expression of the L-type calcium channel revealed a 2-fold increase in PB compared to V uteri. These findings closely align with oxytocin dose response data in the presence of the T-type calcium channels blocker Mibefradil and with the T-type channels expression. Conclusions: Neither L-type or T-type Ca2+ channels appear to be key players in the differential response to oxytocin of V and PB uteri. Instead, it is more likely that other elements of the intracellular calcium control are involved in this phenomenon. Acknowledgements: This study was supported by a Kenneth Suarez Fellowship to RP and an MWU intramural fund to MP. This is the full abstract presented at the American Physiology Summit 2024 meeting and is only available in HTML format. There are no additional versions or additional content available for this abstract. Physiology was not involved in the peer review process.

Feasibility and effectiveness of preconception check-ups at workplaces in Japan.

Despite the recent increase in infertility and perinatal complications, preconception care is not commonly available in Japan. Working women are considered to have the greatest need for preconception care, as increasingly they marry and have children later in life. This study aimed to assess the feasibility and effectiveness of preconception check-ups in the workplace. We provided 51 female employees aged 18-39years with free preconception check-ups, including additional blood tests and an online medical questionnaire, during mandatory health check-ups at their workplace. A doctor provided online counseling based on the check-up results. We assessed fertility knowledge using the Cardiff Fertility Knowledge Scale (CFKS-J) and childbearing desire pre- and postintervention. Preconception check-ups revealed various potential risk factors for future pregnancies, including underweight (12%), obesity (20%), Chlamydia trachomatis IgG antibody positivity (22%), low rubella IgG antibody levels (47%), iron deficiency (12%), and 25-hydroxyvitamin D levels <30ng/mL (98%). Postintervention, the participants reported high satisfaction with the check-ups and significantly advanced their reproductive plans (P = .008). Furthermore, 95% of the participants indicated an intention to seek medical attention or make lifestyle changes. The postintervention CFKS-J score (mean [SD]) was higher than the preintervention score (71.7 [19.3] vs 63.0 [22.0]; P = .006). We developed a preconception check-up package that can be integrated into workplace health examinations, complemented by tailored counseling. This novel check-up package is a feasible and effective approach for improving preconception health and fertility awareness.

Ovarian ectopic pregnancy: clinical characteristics, ultrasound diagnosis and management.

To compare the clinical, ultrasound and biochemical characteristics of ovarian ectopic pregnancy (OEP) with those of tubal ectopic pregnancy (TEP). This was a retrospective case-control study of women with OEP and those with TEP seen at a single center between December 2010 and February 2021. OEP was defined as a pregnancy located completely or partially within the ovarian parenchyma, seen separately to a corpus luteum, if a corpus luteum was present within the ipsilateral ovary. We compared demographic features, risk factors, clinical presentation, ultrasound findings and outcomes, such as blood loss at surgery, need for blood transfusion, length of hospital stay, follow-up and future pregnancy outcome, between cases of OEP and TEP. Overall, 20 women with OEP were identified and compared to 100 women with TEP. A total of15/20(75%) OEPs were diagnosed correctly on the first ultrasound scan. There was no difference between the groups in terms of maternal age, gestational age, gravidity, parity or risk factors. Compared with TEP, OEP was more likely to present with abdominal pain without vaginal bleeding (12/20 (60%) vs 13/100 (13%); odds ratio (OR), 10.0 (95% CI, 3.45-29.20); P < 0.01), contain an embryo with cardiac activity (3/20 (15%) vs 2/100 (2%); OR, 8.7 (95% CI, 1.34-55.65); P = 0.02) and have severe hemoperitoneum on ultrasound (9/20 (45%) vs 8/100 (8%); OR, 9.4 (95% CI, 3.01-29.40); P < 0.01), and had a higher volume of blood loss at surgery (median, 700 mL vs 100 mL; P < 0.01). All surgically managed OEPs had successful laparoscopic treatment (18 excisions, one wedge resection) with preservation of the ovary. Only one (5%) case of OEP required a blood transfusion. OEP is more likely than TEP to contain an embryo and to present with severe hemoperitoneum. In a dedicated early pregnancy setting, the majority of OEPs were detected on an ultrasound scan at the initial visit, facilitating optimal minimally invasive surgical management, reducing the risk of blood transfusion and oophorectomy. Our findings can be used as a reference for clinicians who may not otherwise encounter this rare condition. © 2023 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.