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PURPOSE: To determine whether embryo cryopreservation is associated with a difference in maternal serum analyte levels in singleton and twin pregnancies conceived via in vitro fertilization (IVF). METHODS: This was a retrospective cohort study of singleton and twin pregnancies conceived via IVF from a university health system from 01/2014 to 09/2019. Patients with available first and second trimester serum analyte data were included and analyzed separately. Multiple of the median (MoM) values for free ß-human chorionic gonadotropin (ß-hCG), pregnancy-associated plasma protein A, alpha-fetoprotein (AFP), Inhibin A, and unconjugated estriol (uE3) were compared between two groups: pregnancies conceived after the transfer of fresh embryos versus pregnancies conceived after the transfer of frozen-thawed embryos. Multiple linear regression of log MoM values with F test was performed to adjust for potential confounders. RESULTS: For singletons, fresh embryos were associated with a lower median first trimester free ß-hCG (1.00 MoM vs. 1.14 MoM; parameter estimate [PE] 0.90, 95% CI 0.82-0.99, p = .03) compared to frozen-thawed embryos. Fresh embryos were also associated with a lower median second trimester uE3 (0.93 MoM vs. 1.05 MoM; PE 0.88, CI 0.83-0.95, p = .0004) and AFP (1.02 MoM vs. 1.19 MoM; PE 0.91, CI 0.84-0.99, p = .02) compared to frozen-thawed embryos in singletons. There were no significant differences between median first and second trimester serum analytes in twin pregnancies compared between the two groups. CONCLUSION: Singleton pregnancies derived from fresh embryos had lower first (free ß-hCG) and second (uE3 and AFP) trimester analytes compared to frozen-thawed embryos. Twin pregnancies demonstrated no difference between the groups.
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Embarazo Gemelar , alfa-Fetoproteínas , Embarazo , Femenino , Humanos , Estudios Retrospectivos , Gonadotropina Coriónica Humana de Subunidad beta , Fertilización In VitroRESUMEN
OBJECTIVE: The objective of this study was to determine the prevalence, authorship and content type of third-party reproduction-related information shared on Instagram by hashtag analysis. METHODS: A list of 10 hashtags consisting of terms related to third-party reproduction was derived. Content analysis was performed in December 2021 on the most recent 100 posts for each hashtag to determine authorship and content type. RESULTS: Our search yielded 838,151 posts. The 3 most popular hashtags were 'surrogacy', 'surrogate' and 'surrogacy journey.' Authorship of the top posts were: patients (59.2%), professional society (14.2%), for-profit commercial groups (11.4%), allied health professional (9.4%), physicians (3.3%), and other (2.5%). Patient experiences accounted for the largest share of posts (39.4%), followed by personal posts unrelated to diagnosis (21.5%), outreach posts (19.5%), advertisements (14.2%) and educational (4.8%). Patients authored the majority of posts. CONCLUSIONS: The vast majority of Instagram posts related to third-party reproduction were authored by patients who shared their own personal experiences. Within surrogacy, both gestational carriers and intended parents shared their experiences providing perspective into the surrogacy process. Physician participation may improve the quality and quantity of educational posts and offer a low-cost platform for networking and connecting with patients.
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Background: Fumarase deficiency is an autosomal recessive condition characterized by severe neurologic abnormalities due to homozygous mutations in the fumarate hydratase (FH) gene. Heterozygous carriers of FH mutations have increased risk of developing uterine fibroids that can be associated with hereditary leiomyomatosis and renal cell cancer (HLRCC). The association between FH mutations and infertility remains uncertain. The objective of our study was to characterize the infertility diagnoses, treatments, and outcomes in women presenting to a fertility center who were found to be carriers of fumarase deficiency based on the presence of heterozygous FH mutations. Case Presentation: A retrospective case series was conducted including 10 women presenting to an academic fertility center who were found to be FH carriers based on genetic carrier screening. Of the 9 women who were engaged in further workup, 2 had imaging results consistent with uterine fibroids. One woman underwent hysteroscopic myomectomy prior to two courses of ovulation induction with timed intercourse (OI/TIC) followed by one successful cycle of IVF. Of the remaining patients, only 1 woman successfully delivered after a cycle of ovulation induction with intrauterine insemination (OI/IUI). Other patients pursuing OI/IUI, OI/TIC, or monitored natural cycles had unsuccessful experiences. Conclusion: Patients with infertility who are offered genetic testing should be screened for FH mutations, as the carriers are at risk of developing HLRCC-associated uterine fibroids, which can influence fertility and pregnancy. Additional research is needed to investigate the impacts of FH mutations on infertility.
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Over the past several years, there has been a significant increase in the popularity of podcast use. The purpose of this study was to review the availability, content, and authorship of podcasts on the topic of fertility and to compare those hosted by physicians vs patients. A search for podcasts relating to the term 'fertility' was performed using 10 podcast platforms. Information relating to each podcast was recorded. Chi-square was used for comparison of proportions and the Mann-Whitney test for continuous variables. Of the 133 podcasts that met inclusion criteria, the most common subject was patient education (62%), followed by fertility awareness (30%), and Third Party Reproduction (13%). A majority of podcasts were hosted by patients (40%), holistic health professionals (28%), and physicians (16%). When comparing podcasts hosted by physicians vs. patients, there was no difference in overall content (p = 0.07), frequency of episodes (p = 0.77), number of episodes (p = 0.63) and number of listener ratings (p = 0.47). We conclude that many fertility podcasts exist with most hosted by patients describing their fertility experiences. Understanding the landscape of fertility podcasts will allow physicians to identify areas of interest and create content which educates and enhances connection with patients.
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Fertilidad , Infertilidad , Humanos , Infertilidad/terapia , ReproducciónRESUMEN
The purpose of this study was to evaluate whether there is a difference in procedure duration and time spent in the post anaesthesia care unit (PACU) between weekday (WD) and weekend (WE) oocyte retrievals (ORs). This was a retrospective cohort study of patients compared and stratified based on number of oocytes retrieved (1-10, 11-20, and >20). Student's t-test and linear regression models were used to assess the relationship between AMH, BMI, and a number of oocytes retrieved with the duration of procedure and total time spent in the PACU. 664 patients underwent OR of which 578 met inclusion criteria and were analyzed. There were 501 WD OR cases (86%) and 77 (13%) WE ORs. When stratified by number of oocytes retrieved, there was no difference in procedure duration or PACU time between WD vs. WE OR. Longer procedure times were associated with higher BMI (p = 0.04), AMH (p = 0.01) and oocytes retrieved (p < 0.01). Increased PACU times positively correlated with the number of oocytes retrieved (p = 0.04), but not AMH or BMI. While BMI, AMH, and number of oocytes retrieved are associated with longer intra-operative and post-operative recovery times, there is no difference in procedure or recovery time when comparing WD vs. WE procedures.
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Recuperación del Oocito , Oocitos , Humanos , Recuperación del Oocito/métodos , Estudios Retrospectivos , Fertilización In Vitro , Inducción de la Ovulación/métodosRESUMEN
OBJECTIVE: To determine whether preimplantation genetic testing (PGT) is associated with a change in maternal serum analyte levels in pregnancies conceived via in vitro fertilization (IVF). METHODS: Retrospective cohort of singleton and twin IVF pregnancies with available first- or second-trimester serum analyte data from 01/2014 to 09/2019. Multiple of the median (MoM) values for free ß-human chorionic gonadotropin (ß-hCG), pregnancy-associated plasma protein A (PAPP-A), alpha-fetoprotein (AFP), inhibin A, and unconjugated estriol, were compared between two groups: pregnancies conceived after transfer of PGT screened euploid embryos vs. those conceived after transfer of untested embryos. Multiple linear regression of log MoM values with F test was performed to adjust for potential confounders. RESULTS: Nine hundred and sixty-two singleton and 165 twin IVF pregnancies with serum analyte data available for analysis were included. PGT was associated with a higher median first- and second-trimester AFP compared to no PGT in singletons (1.23 MoM vs. 1.13 MoM; parameter estimate [PE] 1.08, 95% CI 1.00-1.17, p= .04, and 1.21 MoM vs. 1.07 MoM; PE 1.07, 95% CI 1.01-1.13, p= .01, respectively). PGT was also associated with a lower median PAPP-A compared to no PGT in twins (0.75 MoM vs. 1.18 MoM, PE 0.74, 95% CI 0.60-0.92, p= .006). CONCLUSIONS: Our data suggest that PGT is associated with higher maternal serum levels of second-trimester AFP in singleton and lower levels of first-trimester PAPP-A in twin pregnancies conceived via IVF.
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Proteína Plasmática A Asociada al Embarazo , alfa-Fetoproteínas , Embarazo , Femenino , Humanos , Segundo Trimestre del Embarazo , alfa-Fetoproteínas/análisis , Estudios Retrospectivos , Proteína Plasmática A Asociada al Embarazo/análisis , Gonadotropina Coriónica Humana de Subunidad beta , Primer Trimestre del Embarazo , Pruebas Genéticas , BiomarcadoresRESUMEN
OBJECTIVES: To determine whether preimplantation genetic testing for aneuploidy (PGT-A) is associated with a reduced risk of abnormal conventional prenatal screening results in singleton pregnancies conceived using in vitro fertilization (IVF). METHODS: This was a retrospective cohort study of singleton IVF pregnancies conceived from a single tertiary care center between January 2014 and September 2019. Exclusion criteria included mosaic embryo transfers, vanishing twin pregnancies, and cycles with missing outcome data. Two cases of prenatally diagnosed aneuploidy that resulted in early voluntary terminations were also excluded. The primary outcome of abnormal first or second-trimester combined screening results was compared between two groups: pregnancy conceived after transfer of a euploid embryo by PGT-A vs. transfer of an untested embryo. Multivariable backwards-stepwise logistic regression with Firth method was used to adjust for potential confounders. RESULTS: Of the 419 pregnancies included, 208 (49.6%) were conceived after transfer of a euploid embryo by PGT-A, and 211 (50.4%) were conceived after transfer of an untested embryo. PGT-A was not associated with a lower likelihood of abnormal first-trimester (adjusted OR 1.64, 95% CI 0.82-3.39) or second-trimester screening results (adjusted OR 0.96, 95% CI 0.56-1.64). The incidences of cell-free DNA testing, fetal sonographic abnormalities, genetic counseling, and invasive prenatal diagnostic testing were similar between the two groups. CONCLUSIONS: Our data suggest that PGT-A is not associated with a change in the likelihood of abnormal prenatal screening results or utilization of invasive prenatal diagnostic testing. Counseling this patient population regarding the importance of prenatal screening and prenatal diagnostic testing, where appropriate, remains essential.
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Aneuploidia , Pruebas Genéticas , Diagnóstico Preimplantación , Adulto , Estudios de Cohortes , Femenino , Fertilización In Vitro , Humanos , Pruebas de Detección del Suero Materno/estadística & datos numéricos , Embarazo , Estudios Retrospectivos , Ultrasonografía Prenatal/estadística & datos numéricosRESUMEN
Patient attire is paramount to a patient's dignity and hospital experience. The traditional hospital gown is dehumanizing, anachronistic, and was designed for providers' convenience. In this descriptive, prospective follow-up to our previous pilot study, we evaluated male and female medical and surgical patients and provider preference and experience with a novel patient gowning system, the Patient Access Linen System (PALS). This study was conducted in 2 hospitals within our health system. Our objective was to assess patient and provider satisfaction, experience, and preference using the PALS. A multiple-choice, free response survey was administered to patients and providers following the use of an item. A total of 315 patients and 249 staff in 2 hospitals completed surveys regarding their experience using or providing care to patients using the PALS. Patients and providers had consistently positive experiences with the PALS, including questions about comfort and function. The data demonstrate a clear preference for the PALS compared to the traditional hospital gown and give additional supporting evidence that the comfort of hospital clothing is of paramount importance to patients.
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BACKGROUND: Due to the coronavirus disease 2019 (COVID-19) pandemic, all Obstetrics and Gynecology fellowship interviews were held virtually for the 2020 fellowship match cycle. The aim of this study was to describe our initial experience with virtual Obstetrics and Gynecology fellowship interviews and evaluate its effectiveness in assessing candidates. METHODS: This was a cross-sectional survey study that included all interviewing attending physicians and fellows from five Obstetrics and Gynecology subspecialties at a single academic institution following the 2020-2021 fellowship interview season. The survey consisted of 19 questions aimed to evaluate each subspecialty's virtual interview process, including its feasibility and performance in evaluating applicants. The primary outcome was the subjective utility of virtual interviews. Secondary outcomes included a comparison of responses from fellows and attending physicians. RESULTS: Thirty-six attendings and fellows completed the survey (36/53, 68% response rate). Interviewers felt applicants were able to convey themselves adequately during the virtual interview (92%) and the majority (70%) agreed that virtual interviews should be offered in future years. Attending physicians were more likely than fellows to state that the virtual interview process adequately assessed the candidates (Likert Scale Mean: 4.4 vs. 3.8, respectively, p = 0.02). Respondents highlighted decreased cost, time saved, and increased flexibility as benefits to the virtual interview process. CONCLUSION: The use of virtual interviews provides a favorable method for conducting fellowship interviews and should be considered for use in future application cycles. Most respondents were satisfied with the virtual interview process and found they were an effective tool for evaluating applicants.
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COVID-19 , Ginecología , Internado y Residencia , Obstetricia , Estudios Transversales , Becas , Ginecología/educación , Humanos , Obstetricia/educación , Pandemias , SARS-CoV-2 , Encuestas y CuestionariosRESUMEN
PURPOSE: To analyze donor oocyte (DE) data across 6 years for oocyte usage efficiency, trends, and whether changes impacted outcomes. METHODS: From 2014 to 2019, 323 DE embryo transfers were completed in 200 recipients using oocytes derived of 163 donors. We assessed data for oocytes being freshly retrieved (FRESH-EGG) vs. purchased frozen (FROZEN-EGG); embryos transferred fresh (FRESH-ET) vs. frozen (FROZEN-ET); cycles SHARED (two recipients) vs. SOLE (one recipient); single (SET) vs. double (DET) embryo transfers and usage of PGT-A. Primary outcome was ongoing pregnancy plus live birth (OP/LB) rate. RESULTS: A total of 229 FRESH-EGG (70%) and 94 FROZEN-EGG (30%) cycles were completed. Overall, the use of FRESH-EGG yielded a higher OP/LB compared to FROZEN-EGG (49% vs. 30%, p = 0.001); within the FRESH-EGG group, OP/LB was similar when comparing FRESH-ET vs. FROZEN-ET (58% vs. 45%, p = 0.07). Within the FRESH-ET group, those using FRESH-EGG had a higher OP/LB than those using FROZEN-EGG (58% vs. 27%, p < 0.001). SHARED vs. SOLE cycles (p = 0.6), donor age (21-32 years; p = 0.4), and age of intended parents (maternal p = 0.3, paternal p = 0.2) did not significantly impact OP/LB. Notably, the use of PGT-A did not improve odds for an OP/LB (p = 0.7). CONCLUSION: The use of FRESH-EGG with FRESH-ET without PGT-A remains superior to newer DE treatment combinations. Specifically, the use of FROZEN-EGG and PGT-A did not improve outcomes. Although changing DE practices may enhance experience and affordability, patients and providers must appreciate that choices do not always favorably impact success. Additionally, newly available genetic-ancestry testing may pose longer-term ramifications mandating change in treatment and/or counseling.
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Tasa de Natalidad/tendencias , Confidencialidad , Fertilización In Vitro/métodos , Donación de Oocito/normas , Oocitos/crecimiento & desarrollo , Índice de Embarazo/tendencias , Donantes de Tejidos/provisión & distribución , Adulto , Conducta de Elección , Criopreservación , Transferencia de Embrión , Femenino , Preservación de la Fertilidad/estadística & datos numéricos , Humanos , Masculino , Persona de Mediana Edad , Donación de Oocito/psicología , Recuperación del Oocito , Embarazo , Estudios Retrospectivos , Adulto JovenRESUMEN
OBJECTIVE: To determine whether preimplantation genetic testing (PGT) is associated with an increase in adverse maternal or neonatal outcomes in singleton and twin live births conceived via in vitro fertilization (IVF). METHOD: Retrospective cohort of live births resulting from IVF within a university health system between January 2014 and August 2019. Adverse maternal outcomes (e.g., hypertensive disorders of pregnancy, abnormal placentation, and preterm birth), and adverse neonatal outcomes were compared in singleton and twin pregnancies conceived after transfer of one or two PGT-screened euploid embryos versus untested embryos in separate analyses. Multivariate backwards-stepwise logistic regression was used to adjust for potential confounders. RESULTS: Of 1160 live births, 539 (46.5%) resulted from PGT-screened embryos, 1015 (87.5%) were singletons, and 145 (12.5%) were twins. After adjusting for potential confounders, there were no significant differences between the two groups with respect to hypertensive disorders of pregnancy, fetal growth restriction, preterm birth, and adverse neonatal outcomes in both analyses, as well as abnormal placentation for singletons. CONCLUSION: Our data suggest that IVF with PGT is not associated with an increased risk of adverse maternal or neonatal outcomes compared to IVF without PGT. Further research utilizing larger cohorts are needed before drawing definitive conclusions.
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Fertilización In Vitro/métodos , Resultado del Embarazo/epidemiología , Diagnóstico Preimplantación/normas , Adulto , Estudios de Cohortes , Femenino , Fertilización In Vitro/estadística & datos numéricos , Pruebas Genéticas/métodos , Pruebas Genéticas/tendencias , Humanos , Embarazo , Diagnóstico Preimplantación/métodos , Diagnóstico Preimplantación/estadística & datos numéricos , Estudios RetrospectivosRESUMEN
PURPOSE: To analyze the content of websites of ACGME-accredited REI fellowship programs in the USA and to determine whether there are differences in content across geographic regions. METHODS: All ACGME-accredited REI fellowship websites active as of September 2020 were evaluated and reviewed using 20 criteria in the following nine domains: program overview, contact information, application information, curriculum, current fellows, research, alumni, faculty, and fellowship benefits. Website content was compared across geographic regions (Northeast, Midwest, South, and West) of the USA. Analyses were completed using chi-squared univariate tests with p < 0.05 considered statistically significant. RESULTS: Out of the 49 accredited REI fellowship programs, 45 (92%) had a dedicated website. The most commonly available information included a program description (88%), clinical sites (84%), and application requirements (78%). Programs less commonly shared information regarding research requirements and didactics (65% for each). Current fellows were featured in 55% of websites with their pictures displayed in 41% and ongoing research in 20%. Salary and alumni information were included in only 14% and 12% of sites, respectively. When comparing content by geographic region, programs in the South had less information regarding application requirements (p < 0.001), interview dates (p = 0.03), and clinical sites (p = 0.04) compared to all other regions. CONCLUSIONS: REI fellowship websites have significant variability in content available to applicants, and many are lacking information about core fellowship requirements. An informative and well-constructed website has the potential to improve perception of a graduate program.
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Endocrinología/tendencias , Infertilidad/genética , Reproducción/genética , Curriculum/tendencias , Becas/tendencias , Femenino , Humanos , Infertilidad/epidemiología , Internet/tendencias , Masculino , Estados Unidos/epidemiologíaRESUMEN
OBJECTIVE: To determine the prevalence, authorship, and types of fertility-related information shared on Instagram targeted toward a new patient interested in fertility options using hashtag and content analysis. Secondary outcomes included comparison of post content stratified by author type (physicians versus patients). METHODS: A list of ten hashtags consisting of fertility terms for the new patient was derived. Content analysis was performed in April 2019 on the top 50 and most recent 50 posts for each hashtag to determine authorship and content type. The distribution of fertility terms in posts made by physicians was compared to that of patients and differences in use of terms were analyzed. RESULTS: Our search yielded 3,393,636 posts. The two most popular hashtags were IVF (N = 912,049), and Infertility (N = 852,939). Authorship of the top posts for each hashtag (N = 1000) were as follows: patients (67 %), physicians (10 %), for-profit commercial groups (6.0 %), allied health professional (4.5 %), professional societies (1 %), and other (11 %). Of these posts, 60 % related to patient experiences, 10 % advertisements, 10 % outreach, and 8 % educational. Physicians were more likely to author posts related to oocyte cryopreservation compared to IVF, while patients were more likely to author posts about IVF (p < 0.0001). CONCLUSIONS: Over 3 million posts related to fertility were authored on Instagram. A majority of fertility posts are being mobilized by patients to publicly display and share their personal experiences. Concurrent with the rising utilization of planned oocyte cryopreservation, there is a trend toward physicians educating their patients about the process using social media as a platform. Physician participation on social media may offer a low-cost platform for networking and connecting with patients. Future studies examining the educational quality of posts by author type should be explored.
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PURPOSE: To study the incidence of tumor suppressor gene (TSG) mutations in men and women with impaired gametogenesis. METHODS: Gene association analyses were performed on blood samples in two distinct patient populations: males with idiopathic male infertility and females with unexplained diminished ovarian reserve (DOR). The male study group consisted of men with idiopathic azoospermia, oligozoospermia, asthenozoospermia, or teratozoospermia. Age-matched controls were men with normal semen analyses. The female study group consisted of women with unexplained DOR with anti-Müllerian hormone levels ≤ 1.1 ng/mL. Controls were age-matched women with normal ovarian reserve (> 1.1 ng/mL). RESULTS: Fifty-seven male cases (mean age = 38.4; mean sperm count = 15.7 ± 12.1; mean motility = 38.2 ± 24.7) and 37 age-matched controls (mean age = 38.0; mean sperm count = 89.6 ± 37.5; mean motility = 56.2 ± 14.3) were compared. Variants observed in CHD5 were found to be enriched in the study group (p = 0.000107). The incidence of CHD5 mutation c.*3198_*3199insT in the 3'UTR (rs538186680) was significantly higher in cases compared to controls (p = 0.0255). 72 DOR cases (mean age = 38.7; mean AMH = 0.5 ± 0.3; mean FSH = 11.7 ± 12.5) and 48 age-matched controls (mean age = 37.6; mean AMH = 4.1 ± 3.0; mean FSH = 7.1 ± 2.2) were compared. Mutations in CHD5 (c.-140A>C), RB1 (c.1422-18delT, rs70651121), and TP53 (c.376-161A>G, rs75821853) were found at significantly higher frequencies in DOR cases compared to controls (p ≤ 0.05). In addition, 363 variants detected in the DOR patients were not present in the control group. CONCLUSION: Unexplained impaired gametogenesis in both males and females may be associated with genetic variation in TSGs. TSGs, which play cardinal roles in cell-cycle control, might also be critical for normal spermatogenesis and oogenesis. If validated in larger prospective studies, it is possible that TSGs provide an etiological basis for some patients with impaired gametogenesis.
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Infertilidad Femenina/genética , Infertilidad Masculina/genética , Reserva Ovárica/genética , Espermatogénesis/genética , Adulto , ADN Helicasas/genética , Femenino , Gametogénesis/genética , Genes Supresores de Tumor , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Humanos , Infertilidad Femenina/patología , Infertilidad Masculina/patología , Masculino , Mutación/genética , Proteínas del Tejido Nervioso/genética , Proteínas de Unión a Retinoblastoma/genética , Recuento de Espermatozoides , Motilidad Espermática/genética , Espermatozoides/patología , Proteína p53 Supresora de Tumor/genética , Ubiquitina-Proteína Ligasas/genéticaRESUMEN
BACKGROUND: Vaginal cuff dehiscence is a rare complication of hysterectomy. Those who choose to undergo controlled ovarian stimulation (COS) and oocyte cryopreservation following hysterectomy must be aware that elevated abdominal pressure from stimulation as well as transvaginal ultrasound use during monitoring may increase the risk of cuff dehiscence. CASE: We present a case of a 25-year-old patient who had undergone a hysterectomy four months prior for endometrial cancer who was found to have vaginal cuff dehiscence which was recognized at the time of egg retrieval after COS. Prompt recognition and appropriate management led to successful treatment. CONCLUSION: Patients presenting for oocyte cryopreservation following hysterectomy are at risk for cuff dehiscence. Providers should allow ample time for proper cuff healing prior to COS and oocyte cryopreservation.
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BACKGROUND: Patient attire is paramount to patient's dignity and overall experience. In this pilot study and in concert with a designer and clinician, we developed, patented, tested, and evaluated patient and provider preference and experience with a novel patient gowning system. Our objective was to survey obstetrics and gynecology hospital inpatients' and providers' experience with a novel hospital attire system; the patient access linen system (PALS). METHODS: Patients were provided a PALS item at the beginning of a provider's shift or at the start of an outpatient visit. Following their use of the PALS item, the patients and providers completed a separate multiple-choice and free-response question survey. Surveys were completed by patients each time a PALS item was returned to the provider for processing. RESULTS: Patients and providers had a significantly positive experience with the PALS. The majority of patients had positive responses to each question about comfort and function of the PALS system, showed consistent preference for the PALS in comparison to a traditional hospital gown and demonstrated that comfort of hospital clothing is a priority for patients. The majority of providers found PALS easy to use when compared to the traditional gown with regard to clinical examinations. CONCLUSION: Patients in our pilot prioritized hospital attire as a key element in their overall hospital experience, and both patients and providers preferred the PALS system over the traditional hospital gown. Further study is needed on patient attire and evaluation of the potential clinical impact of the PALS.
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RESEARCH QUESTION: What are the factors contributing to similarities and differences in carrier rates between two expanded carrier screening (ECS) panels? DESIGN: Retrospective cross-sectional study. A total of 7700 infertility patients who underwent ECS from one of two genetic testing laboratories (Panel A or Panel B) using a genotyping microarray were included in the study. Individuals presenting to the Centre between June 2013 and July 2015 underwent screening via Panel A. Those presenting between August 2015 and April 2017 underwent screening via Panel B. Self-reported ethnicity was recorded. Panel content, carrier rates for the overall study population and for comparable self-reported ethnicities, carrier couple rates, and the top 10 identified disorders were compared. RESULTS: Of 4232 individuals screened by Panel A, 1243 were identified as carriers (29.4%). Panel B identified 1503 carriers among the 3468 (43.3%) participants (P < 0.0001). Carrier couple rate also varied between panels (1.2% versus 3.1%; Pâ¯=â¯0.0017). A total of 311 disorders covering 2746 mutations were observed across the two ECS panels, with 372 (13.5%) shared mutations. Carrier rates did not differ for the shared mutations overall and across ethnicities. Significant differences were observed when comparing unique content in the overall population (P < 2 .2â¯×â¯10-16) and across ethnicities (P < 2.2â¯×â¯10-16 to 0.0010). CONCLUSIONS: Carrier rates in the overall population and across ethnicities vary widely based on panel content, and highlight the need to expand panel content as well as incorporate preconception carrier screening coupled with genetic counselling into routine assisted reproduction practice.
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Tamización de Portadores Genéticos/métodos , Asesoramiento Genético , Infertilidad/genética , Mutación , Adulto , Estudios Transversales , Femenino , Humanos , Masculino , Estudios RetrospectivosRESUMEN
PURPOSE: To evaluate the efficiency of expanded carrier screening (ECS) compared with ethnicity-based screening in identifying carriers. METHODS: A total of 4232 infertility patients underwent ECS from a single genetic testing laboratory at our center between June 2013 and July 2015. Self-reported ethnicity was recorded. Carrier rates based on ECS were calculated. In addition, carrier status was determined for two other screening panels: ethnicity-based guidelines or the ECS panel recommended by the American College of Obstetricians and Gynecologists (ACOG) using ECS results. Carrier rate and carrier couple rates were compared in the overall study population and in each self-reported ethnicity. RESULTS: The ECS panel used to screen the patient population identified 1243 carriers (29.4%). For the same population, ethnicity-based screening and the ACOG panel would have identified 359 (8.5%) and 659 carriers (15.6%), respectively, representing statistically significant differences. Differences in identifying carriers across self-reported ethnicities varied. In 15 couples (1.2%), both partners carried pathogenic variants for the same genes, 47% of whom would have been missed had screening been ethnicity-based. CONCLUSION: We propose that all reproductive-aged women should be offered ECS. Carrier couple rates would likely increase further with expansion of the panel, playing a pivotal role in preventing genetic disease in fertility clinics.