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1.
J Matern Fetal Neonatal Med ; 35(21): 4130-4136, 2022 Nov.
Article in English | MEDLINE | ID: mdl-33207999

ABSTRACT

OBJECTIVE: To use a questionnaire to determine the levels of maternal decision-related distress, clarity of the pros and cons, and certainty when considering prenatal genetic diagnostic testing; and to assess the relationship between these constructs and patient characteristics. METHOD: Cross-sectional study. Voluntary, anonymous questionnaires distributed 2017-2019 to women referred for invasive prenatal genetic testing. Excluded: English or Spanish illiterate. Maternal characteristics were collected. Questions evaluated distress, decisional certainty, and decisional clarity on a 5-point Likert scale (range: 0 = low/uncertain/unclear to 4 = high/certain/clear). Analysis: non-parametric Kruskal-Wallis, correlation statistics, and ANOVA. RESULTS: Forty-four female patients completed it. Most were married, white, Catholic, and multiparous. 58% had already made a testing decision. Patients expressed low distress levels (mean 1.18 ± 0.80) and expressed high decisional certainty (mean 3.28 ± 0.76) and clarity (mean 3.30 ± 0.99). Decisional certainty and clarity were positively correlated (r = 0.47, p < .01), whereas distress was negatively correlated with decisional certainty (r = -0.8136, p < .0005) and decisional clarity (r = -0.49, p = .007). No significant differences by religion or parity. Greater distress (p < .05) and less decisional clarity (p = .07) occurred between those still debating testing vs those who had decided. CONCLUSIONS: Higher maternal distress scores were associated with lower decisional certainty and decisional clarity in women considering prenatal genetic testing.


Subject(s)
Decision Making , Genetic Testing , Cross-Sectional Studies , Female , Humans , Pregnancy , Referral and Consultation , Surveys and Questionnaires
2.
J Genet Couns ; 31(1): 176-187, 2022 02.
Article in English | MEDLINE | ID: mdl-34279057

ABSTRACT

This study examined perspectives on the ethical implications of preimplantation genetic testing (PGT) among individuals who actually (not hypothetically) used or considered using PGT. Most of the prior patient-centered research on PGT ethics used qualitative designs (9 out of the 11 articles) and focused only on single gene testing. This cross-sectional study used an anonymous online questionnaire; 15 items assessed potential ethical concerns involved in PGT decision-making, including clinical indications for PGT, the greater implications of PGT for society, and unused embryo disposition. N = 207 individuals (mean female/male age 35.7/38.9 years, 21% Hispanic or non-White) who had recently used or considered using PGT for single gene (60%) or for chromosomal testing (40%) completed the questionnaire. Most respondents supported PGT screening for disease conditions with childhood or adult onset that are untreatable (64%-85% across items); most opposed PGT for trait selection (76%-81%). Most respondents agreed that PGT aids in parental decision-making (66%-67%), although some expressed concern over potential unforeseen consequences (25%-30%). Regarding disposition of embryos without known genetic abnormalities, most respondents favored freezing indefinitely (86%) or donating to another family (69%), while for embryos with genetic abnormalities, most respondents favored donating to research (78%) or destroying them (62%). Stratification by religious affiliation revealed several differences, such as less acceptance of PGT for diseases that occur in adulthood and have no treatment options among Protestants (p = .015) and greater willingness to donate surplus embryos to research among participants without a religious affiliation (p < .001). These results are limited by the relatively homogeneous sample of participants (mostly White, married, and predominantly college-educated). In summary, participants who considered/used PGT found PGT acceptable overall for screening for disease conditions; most opposed using PGT for trait selection. Our novel questionnaire provides a structured tool for assessing the ethical perspectives surrounding the use of PGT.


Subject(s)
Aneuploidy , Preimplantation Diagnosis , Adult , Child , Cross-Sectional Studies , Female , Genetic Testing/methods , Humans , Male , Morals , Pregnancy
3.
Prenat Diagn ; 40(10): 1220-1227, 2020 09.
Article in English | MEDLINE | ID: mdl-32367519

ABSTRACT

OBJECTIVE: To analyze psychometric properties of two novel instruments assessing decisional distress and uncertainty experienced by individuals considering preimplantation genetic testing (PGT). METHODS: The new PGT Decisional Distress instrument (22 items) assesses negative/positive emotions. The new PGT Decisional Uncertainty instrument assesses Clarity about test benefits/disadvantages (5 items) and Certainty of having adequate information/support to make a good decision (7 items). Scales ranged from 0 to 4. Psychometrics (central tendencies, internal consistency reliability, and discriminant validity) were evaluated. Stratified analysis by decision stage was conducted. All participants had considered or used PGT in the previous 6 months. RESULTS: N = 106 females (mean age 36.5 ± 4.8 years; 16% non-Caucasian; 9% Hispanic) across 16 US states completed an online anonymous questionnaire. On average, respondents reported minimal distress (mean 0.96), high clarity (mean 3.26), and high certainty (mean 3.06), particularly those who had already decided compared to undecided women (P ≤ .02). Instruments had excellent internal consistency (Cronbach's α's 0.92-0.94) and displayed sufficient inter-individual variability (SD's 0.75-0.89). Correlations confirmed expected patterns of association between instruments (P's < .01), indicating discriminant validity. CONCLUSION: We document initial reliability and validity of new instruments to measure emotional distress and uncertainty in female patients who have recently considered PGT for single-gene or chromosomal disorders.


Subject(s)
Preimplantation Diagnosis/psychology , Psychological Distress , Psychometrics/methods , Uncertainty , Adult , Decision Making , Emotions , Female , Humans , Male , Middle Aged , Pregnancy , Reproducibility of Results , Surveys and Questionnaires , United States
4.
J Assist Reprod Genet ; 37(5): 1037-1055, 2020 May.
Article in English | MEDLINE | ID: mdl-32212026

ABSTRACT

PURPOSE: Twelve percent of women in the USA will develop invasive breast cancer in their lifetime, and that risk increases to 80% if they carry a BRCA1 or BRCA2 mutation. BRCA1/2 mutations are thought to potentially affect ovarian reserve and/or fertility. METHODS: PubMed and PubMed Central were searched for publications on ovarian reserve-related outcomes (i.e., AMH and response to controlled ovarian hyperstimulation (COH) protocols) that were reported in relation to BRCA1 and/or BRCA2 mutations from 1950 through May 2019. A meta-analysis was conducted to create forest plots and summary effect measures using Review Manager 5.3. RESULTS: This article reviews the 16 qualifying publications. There were several fundamental methodological differences in the study designs and outcome details reported in AMH studies. Summary statistics found no difference in AMH levels between BRCA1/2+ women as compared with controls (Z overall test effects p ≥ 0.45). Regarding responses to COH, there were overall non-significantly fewer total and mature numbers of oocytes retrieved in BRCA1/2+ cases as compared with controls (meta-analysis Z overall test effects p ≥ 0.40). CONCLUSIONS: While the summary measures indicate no significant differences in AMH levels between BRCA1/2+ cases and controls, readers should be aware that there are significant methodological differences in the AMH reports. Additionally, the response to COH protocols does not seem to be significantly lower in BRCA1/2 mutation carriers in the existing literature. Continued research on both of these clinical parameters would be beneficial for patient counseling.


Subject(s)
BRCA1 Protein/genetics , BRCA2 Protein/genetics , Breast Neoplasms/genetics , Ovarian Reserve/genetics , Anti-Mullerian Hormone/genetics , Breast Neoplasms/pathology , Female , Fertility/genetics , Humans , Mutation/genetics , Oocytes/growth & development , Oocytes/metabolism
5.
J Clin Endocrinol Metab ; 105(4)2020 04 01.
Article in English | MEDLINE | ID: mdl-31965189

ABSTRACT

BACKGROUND: A test that helps predict the time to the final menstrual period (FMP) has been sought for many years. OBJECTIVE: To assess the ability of antimullerian hormone (AMH) measurements to predictions the time to FMP. DESIGN: Prospective longitudinal cohort study. SETTING: The Study of Women's Health Across the Nation. PARTICIPANTS AND MEASUREMENTS: AMH and FSH were measured in 1537 pre- or early perimenopausal women, mean age 47.5 ±â€…2.6 years at baseline, then serially until 12 months of amenorrhea occurred. AMH was measured using a 2-site ELISA with a detection limit of 1.85 pg/mL. MAIN OUTCOME MEASURE: Areas under the receiver operating curves (AUC) for AMH-based and FSH-based predictions of time to FMP, stratified by age. Probabilities that women would undergo their FMP in the next 12, 24, or 36 months across a range of AMH values were assessed. RESULTS: AUCs for predicting that the FMP will occur within the next 24 months were significantly greater for AMH-based than FSH-based models. The probability that a woman with an AMH <10 pg/mL would undergo her FMP within the next 12 months ranged from 51% at h<48 years of age to 79% at ≥51 years. The probability that a woman with an AMH >100 pg/mL would not undergo her FMP within the next 12 months ranged from 97% in women <48 years old to 90% in women ≥51 years old. CONCLUSIONS: AMH measurement helps estimate when a woman will undergo her FMP, and, in general, does so better than FSH.


Subject(s)
Anti-Mullerian Hormone/blood , Biomarkers/blood , Menopause , Menstrual Cycle , Reproduction , Adult , Female , Follow-Up Studies , Humans , Longitudinal Studies , Middle Aged , Prognosis , Prospective Studies , United States , Women's Health
6.
Reprod Biomed Online ; 38(4): 560-569, 2019 Apr.
Article in English | MEDLINE | ID: mdl-30711457

ABSTRACT

FMR1 CGG trinucleotide repeat expansions are associated with Fragile X syndrome (full mutations) and primary ovarian insufficiency (premutation range); the effect of FMR1 on the success of fertility treatment is unclear. The effect of FMR1 CGG repeat lengths on IVF outcomes after ovarian stimulation was reviewed. PubMed was searched for studies on IVF-related outcomes reported by FMR1 trinucleotide repeat length published between 2002 and December 2017. For women with CGG repeats in the normal (<45 CGG), intermediate range (45-54 CGG), or both, research supports a minimal effect on IVF outcomes, including pregnancy rates; although one study reported lower oocyte yields after IVF stimulation in women with lower CGG repeat lengths and normal ovarian reserve. Meta-analysis revealed no association within subcategories of normal repeat length (<45 CGG) and IVF pregnancy rates (summary OR 1.0, 95% CI 0.87 to 1.15). Premutation carriers (CGG 55-200) may have reduced success with IVF treatment (lower oocyte yield) than women with a normal CGG repeat length or a full mutation, although findings are inconsistent. Direct implications of the repeat length on inheritance and the risk of Fragile X syndrome have been observed. Patients may require clinical and psychological counselling, and further preimplantation genetic testing options should be considered. Thus, there are clinical and psychological counseling implications for patients and potential further patient decisions regarding preimplantation genetic testing options.


Subject(s)
Fertilization in Vitro , Fragile X Mental Retardation Protein/genetics , Trinucleotide Repeat Expansion , Trinucleotide Repeats , Adult , Female , Fertility , Fragile X Syndrome/genetics , Genotype , Heterozygote , Humans , Infertility, Female/genetics , Male , Maternal Age , Middle Aged , Oocyte Retrieval , Ovarian Reserve , Ovulation Induction , Pregnancy , Pregnancy Rate , Primary Ovarian Insufficiency/genetics , Treatment Outcome
7.
J Assist Reprod Genet ; 35(1): 17-23, 2018 Jan.
Article in English | MEDLINE | ID: mdl-28971280

ABSTRACT

There are large variations in the number of oocytes within each woman, and biologically, the total quantity is at its maximum before the woman is born. Scientific knowledge is limited about factors controlling the oocyte pool and how to measure it. Within fertility clinics, there is no uniform agreement on the diagnostic criteria for each common measure of ovarian reserve in women, and thus, studies often conflict. While declining oocyte quantity/quality is a normal physiologic occurrence as women age, some women experience diminished ovarian reserve (DOR) much earlier than usual and become prematurely infertile. Key clinical features of DOR are the presence of regular menstrual periods and abnormal-but-not-postmenopausal ovarian reserve test results. A common clinical challenge is counseling patients with conflicting ovarian reserve test results. The clinical diagnosis of DOR and the interpretation of ovarian reserve testing are complicated by changing lab testing options and processing for anti-mullerian hormone since 2010. Further, complicating the diagnostic and research scenario is the existence of other distinct yet related clinical terms, specifically premature ovarian failure, primary ovarian insufficiency, poor ovarian response, and functional ovarian reserve. The similarities and differences between the definitions of DOR with each of these four terms are reviewed. We recommend greater medical community involvement in terminology decisions, and the addition of DOR-specific medical subject-heading search terms.


Subject(s)
Diagnostic Techniques, Endocrine , Diagnostic Techniques, Obstetrical and Gynecological , Ovarian Diseases/diagnosis , Ovarian Reserve/physiology , Primary Ovarian Insufficiency/classification , Female , Humans , Infertility, Female/diagnosis , Infertility, Female/etiology , Ovarian Diseases/classification , Primary Ovarian Insufficiency/diagnosis , Reproduction/physiology , Terminology as Topic
8.
Fertil Steril ; 108(1): 161-167, 2017 07.
Article in English | MEDLINE | ID: mdl-28579416

ABSTRACT

OBJECTIVE: To examine the magnitude and predictors of emotional reactions to an infertility diagnosis in two groups of women: those with diminished ovarian reserve (DOR), and those clinically diagnosed with an anatomical cause of infertility (ACI). DESIGN: Cross-sectional study. SETTING: Academic and private fertility clinics. PATIENT(S): Women diagnosed with DOR (n = 51) and women diagnosed with ACI (n = 51). INTERVENTION(S): Not applicable. MAIN OUTCOME MEASURE(S): Fertility Problem Inventory (infertility distress), Rosenberg Self-Esteem Scale, Health Orientation Scale (emotional reactions to receiving a diagnosis). RESULT(S): Women with DOR had statistically significantly higher infertility distress scores than women with ACI and higher scores on subscales assessing distress from social concerns, sexual concerns, and a need for parenthood. In both groups, higher self-esteem was associated with lower infertility distress. Hierarchical multiple regression analyses revealed that for women with DOR and those with ACI lower infertility distress but not self-esteem predicted a more positive emotional reaction toward receiving a fertility diagnosis. CONCLUSION(S): Women diagnosed with DOR have greater infertility distress but similar self-esteem and emotional reactions to their diagnosis compared with women who have an anatomical cause of infertility. These results suggest that for both groups distress surrounding infertility itself may influence the way women respond to learning the cause of their infertility.


Subject(s)
Infertility/epidemiology , Infertility/psychology , Primary Ovarian Insufficiency/epidemiology , Primary Ovarian Insufficiency/psychology , Stress, Psychological/epidemiology , Stress, Psychological/psychology , Adult , Age Distribution , Causality , Comorbidity , Emotions , Female , Humans , Infertility/diagnosis , Marital Status/statistics & numerical data , Prevalence , Risk Factors , Self Concept , Stress, Psychological/diagnosis , United States/epidemiology , Women's Health/statistics & numerical data
9.
Fertil Steril ; 107(1): 205-211.e1, 2017 01.
Article in English | MEDLINE | ID: mdl-27816231

ABSTRACT

OBJECTIVE: To study whether reported, but inconsistent, associations between the FMR1 CGG repeat lengths in the intermediate, high normal, or low normal range differentiate women diagnosed with diminished ovarian reserve (DOR) from population controls and whether associations vary by race/ethnic group. DESIGN: Case-control study. SETTING: Academic and private fertility clinics. PATIENT(S): DOR cases (n = 129; 95 Whites, 22 Asian, 12 other) from five U.S. fertility clinics were clinically diagnosed, with regular menses and no fragile X syndrome family history. Normal fertility controls (n = 803; 386 Whites, 219 African-Americans, 102 Japanese, 96 Chinese) from the United States-based SWAN Study had one or more menstrual period in the 3 months pre-enrollment, one or more pregnancy, no history of infertility or hormone therapy, and menopause ≥46 years. Previously, the SWAN Chinese and Japanese groups had similar FMR1 CGG repeat lengths, thus they were combined. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): FMR1 CGG repeat lengths. RESULT(S): Median CGG repeats were nearly identical by case/control group. DOR cases had fewer CGG repeats in the shorter FMR1 allele than controls among Whites, but this was not significant among Asians. White cases had fewer CGG repeats in the shorter allele than Asian cases. No significant differences were found in the high normal/intermediate range between cases and controls or by race/ethnic group within cases in the longer allele. CONCLUSION(S): This study refutes prior reports of an association between DOR and high normal/intermediate repeats and confirms an association between DOR and low normal repeats in Whites.


Subject(s)
Asian/genetics , Black or African American/genetics , Fragile X Mental Retardation Protein/genetics , Hispanic or Latino/genetics , Infertility, Female/ethnology , Infertility, Female/genetics , Ovarian Reserve/genetics , White People/genetics , Adult , Case-Control Studies , Female , Gene Frequency , Genetic Association Studies , Genetic Predisposition to Disease , Humans , Infertility, Female/diagnosis , Infertility, Female/physiopathology , Middle Aged , Phenotype , Risk Factors , Trinucleotide Repeats , United States/epidemiology
10.
Reprod Sci ; 23(9): 1225-33, 2016 09.
Article in English | MEDLINE | ID: mdl-26905421

ABSTRACT

FMR1 premutation carriers (55-199 CGG repeats), and potentially women with high normal (35-44) or low normal (<28) CGG repeats, are at risk of premature ovarian aging. The scarcity of population data on CGG repeats <45 CGG, and variation in race-ethnicity, makes it difficult to determine true associations. DNA was analyzed for FMR1 CGG repeat lengths from 803 women (386 caucasians, 219 African Americans, 102 Japanese, and 96 Chinese) from the US-based Study of Women's Health Across the Nation (SWAN). Participants had ≥1 menses in the 3 months before enrollment, ≥1 pregnancy, no history of infertility or hormonal therapy, and menopause ≥46 years. Statistical analyses used Fisher exact tests. Among these women with normal reproductive histories, significant FMR1 repeat length differences were found across race-ethnicity for both the longer (P = .0002) and the shorter (P < .0001) alleles. The trinucleotide length variance was greater for non-Asian than Asian women (P < .0001), despite identical median values. Our data indicate that short allele lengths <25 CGG on one or both alleles are more common in non-Asian than Asian women. We confirm the minor allele in the 35 to 39 CGG range among Asians as reported previously. Only 2 (0.3%) premutation carriers were identified. These data demonstrate that FMR1 distributions do vary by race-ethnicity, even within the "normal" range. This study indicates the need to control for race-ethnicity in FMR1 ovarian aging research and provides race-ethnic population data for females separated by allele.


Subject(s)
Asian/genetics , Black or African American/genetics , Fragile X Mental Retardation Protein/genetics , White People/genetics , Adult , Cohort Studies , Female , Fertility/genetics , Genetic Predisposition to Disease , Humans , Middle Aged , Reference Values , Trinucleotide Repeats , United States , Women's Health/ethnology
11.
Fertil Res Pract ; 1: 3, 2015.
Article in English | MEDLINE | ID: mdl-28620508

ABSTRACT

BACKGROUND: There is a need to identify an inexpensive, effective method to prevent postoperative adhesion formation. The objective of this study was to create a novel model for studying omentum as a pelvic adhesion barrier. Randomized, prospective, controlled surgical intervention with serial follow-up in 16 female rabbits at a University-based Center for Comparative Medicine. Interventions included bilateral hysterotomy incision and repair. The left hysterotomy was randomized into coverage with an omental flap or graft; the right hysterotomy remained uncovered. Adhesions were scored via laparoscopy on postoperative days 2, 4, 8, and 12; postmortem evaluation and scoring took place on postoperative day 16. Statistical tests consisted of Kappa tests of agreement between adhesion scorers and Kruskal-Wallis nonparametric tests for the comparison of adhesion scores by intervention arm and by uterine horn. RESULTS: All omental flaps and grafts survived. The only significant difference in mean adhesion scores was seen in non-hysterotomy-associated adhesions, where grafts had a lower score than flaps (p = 0.03). CONCLUSIONS: Survival of all omental flaps and grafts demonstrates that this is a practical model for studying omentum as a pelvic adhesion barrier. Determining the efficacy of omentum as a pelvic adhesion barrier will require further investigation.

12.
Front Genet ; 5: 195, 2014.
Article in English | MEDLINE | ID: mdl-25071825

ABSTRACT

The strongest association between FMR1 and the ovary in humans is the increased risk of premature ovarian failure (POF) in women who carry the premutation level of CGG repeats (55-199 CGGs). Research on the FMR1 gene has extended to other endpoints of relevance in the OB/GYN setting for women, including infertility and ovarian hormones. After reviewing the nomenclature changes that have occurred in recent years, this article reviews the evidence linking the length of the FMR1 repeat length to fertility and ovarian hormones (follicle stimulating hormone and anti-mullerian hormone as the primary methods to assess ovarian reserve in clinical settings). The literature is inconsistent on the association between the FMR1 trinucleotide repeat length and infertility. Elevated levels of follicle stimulating hormone have been found in women who carry the premutation; however the literature on the relationship between anti-mullerian hormone and the CGG repeat length are too disparate in design to make a summary statement. This article considers the implications of two transgenic mouse models (FXPM 130R and YAC90R) for theories on pathogenesis related to ovarian endpoints. Given the current screening/testing recommendations for reproductive age females and the variability of screening protocols in clinics, future research is recommended on pretest and posttest genetic counseling needs. Future research is also needed on ovarian health measurements across a range of CGG repeat lengths in order to interpret FMR1 test results in reproductive age women; the inconsistencies in the literature make it quite challenging to advise women on their risks related to FMR1 repeat length.

13.
J Assist Reprod Genet ; 31(10): 1295-301, 2014 Oct.
Article in English | MEDLINE | ID: mdl-24938362

ABSTRACT

PURPOSE: We explored whether AMH, as a surrogate for oocyte supply, varies by FMR1 genotype in women diagnosed with diminished ovarian reserve (DOR), a subset of the Primary Ovarian Insufficiency phenotype. Research is inconsistent on the relationship between AMH and FMR1 repeat length, controlling for age. METHOD: Seventy-nine cycling women diagnosed with DOR, and without a family history of fragile X syndrome, provided blood for FMR1 and AMH testing. DOR was defined as elevated FSH and/or low AMH and/or low antral follicle count, with regular menses. FMR1 CGG repeats were stratified by the larger allele <35 repeats (n = 70) v. ≥35 repeats (n = 9). Quadratic and linear models were fit to predict log (AMH) controlling for age. The AMH sample used as the outcome variable was drawn at a later date than the diagnostic AMH. RESULTS: Serum AMH concentration median was 0.30 ng/mL; Ages ranged from 26-43 years. A quadratic model (including age(2)) did not show a relationship with FMR1 CGG level (p-value = 0.25). A linear model of log (AMH), corresponding to an exponential decline of AMH with increasing age, was significantly different, and had a steeper slope, for women with ≥ 35 CGG repeats than women with < 35 repeats (p = 0.035). CONCLUSION: Findings suggest a greater rate of follicular loss that starts at later ages in women with DOR and ≥ 35 CGG repeats.


Subject(s)
Anti-Mullerian Hormone/biosynthesis , Fragile X Mental Retardation Protein/genetics , Ovarian Reserve/genetics , Trinucleotide Repeat Expansion/genetics , Adult , Female , Follicle Stimulating Hormone/blood , Fragile X Syndrome/genetics , Fragile X Syndrome/metabolism , Genotype , Humans , Oocytes/metabolism , Ovary/metabolism , Primary Ovarian Insufficiency/blood , Primary Ovarian Insufficiency/genetics
14.
J Genet Couns ; 23(6): 968-75, 2014 Dec.
Article in English | MEDLINE | ID: mdl-24788194

ABSTRACT

Diminished ovarian reserve (DOR) and premature ovarian failure are associated with elevated FMR1 CGG repeat alleles. We assessed pretest attitudes about potentially carrying the FMR1 premutation (FXP) (>55 CGG repeats) among reproductive age women compared with attitudes after learning their non-carrier status. Ninety-two women with DOR, regular menses and no family history of Fragile X Syndrome underwent FMR1 testing and completed attitudinal questionnaires before (T1) and 3 months after learning the test results (T2). The analysis utilized signed rank tests and α = 0.05. Very few women thought they were likely to have a FXP (6.6%). More participants thought FMR1 premutations were "serious" at T2 (62.9%) than at T1 (46.1%, p < 0.0003). When asked at T1 to "describe your feelings when you consider that you are potentially a carrier" of a FXP, 10% had negative feelings, 50% felt ambivalent, and 40% had positive feelings. At T2, feelings about not being a carrier were significantly more favorable (p < 0.0001): negative (0%), ambivalent (6.5%), positive (93%). Corroborating prior reports, few women had a negative view of FXP, perhaps anticipating that carrying the FXP explains their infertility. Perception of the seriousness of FXP increased after learning they did not carry the FXP, which would be predicted by health belief models.


Subject(s)
Attitude to Health , Fragile X Mental Retardation Protein/genetics , Fragile X Syndrome/genetics , Ovarian Reserve/genetics , Primary Ovarian Insufficiency/genetics , Adult , Alleles , Female , Humans , Primary Ovarian Insufficiency/psychology , Surveys and Questionnaires , Young Adult
15.
J Am Assoc Nurse Pract ; 26(10): 555-61, 2014 Oct.
Article in English | MEDLINE | ID: mdl-24170685

ABSTRACT

PROBLEM: Cardiovascular disease (CVD) is clinically unique in women and is often underdiagnosed and undertreated. Chronic diseases account for 75% of healthcare expenditures in the United States, of which 70% are preventable through lifestyle changes and active medical management. Lifestyle modification is difficult in the context of the traditional medical visit. DESIGN: The Club Red Clinic uses a novel approach to enhance the care of women at risk for or with CVD. Through shared medical appointments (SMAs) and a multidisciplinary team approach, Club Red provides lifestyle training in addition to evidence-based practice to reduce CVD risk factors in women. In Club Red, nurse practitioners function independently and effectively in delivering lifestyle intervention for the management and prevention of CVD. SETTING: The clinic functions within an academic medical school at the University of Virginia. KEY MEASURES FOR IMPROVEMENT: Patient access, patient satisfaction, provider efficiency, and frequency of cardiovascular visits. EFFECTS OF CHANGE: Process improvements include reduced appointment wait times, improved provider efficiency (more patients seen with the SMAs), high patient satisfaction (96%), and improved adherence to recommended medical monitoring (3.8 visits/year). LESSONS LEARNED: Club Red improved patient access, patient satisfaction, medical and behavioral management, and health promotion education for women with or at risk for CVD.


Subject(s)
Appointments and Schedules , Cardiovascular Diseases/prevention & control , Disease Management , Patient Satisfaction , Process Assessment, Health Care/methods , Female , Group Processes , Humans , United States
16.
J Genet Couns ; 23(1): 97-107, 2014 Feb.
Article in English | MEDLINE | ID: mdl-23764957

ABSTRACT

About 10 % of infertile/subfertile women are diagnosed with diminished ovarian reserve (DOR), of which < 5 % will become pregnant spontaneously. Fragile X (FMR1) genetic testing may provide a reason for her early ovarian aging and/or have reproductive implications. Seven women with DOR (genetic study subset) and the male partners of six of these women were separately interviewed about the experience of being asked to undergo this unanticipated genetic test. Three interviews were conducted (before, within 1 week after, and 3 months after learning the test results). None of the participants carried the FMR1 premutation (largest FMR1 allele 27-50 CGG repeats). For women, their pregnancy-seeking journey was long and exhausting. Women understood the reproductive implications of carrying the FMR1 premutation, and hoped for a negative result. Being offered a genetic test caused women to pause and re-think their future reproductive plans. Husbands viewed the infertility journey as filled with unknowns, of which the genetic test results would be one more puzzle piece. The expense of fertility testing/treatment was mentioned by both spouses, though more notably by husbands. The introduction of a possible genetic cause of infertility, with additional potential health consequences for future biological children, caused women to re-think their quest for pregnancy. In contrast, the genetic test was viewed as an additional source of information for their husbands as opposed to raising concern regarding potential reproductive ramifications.


Subject(s)
Fragile X Syndrome/diagnosis , Mutation , Adult , Female , Fragile X Syndrome/genetics , Humans , Interviews as Topic , Longitudinal Studies
17.
J Reprod Med ; 59(11-12): 579-84, 2014.
Article in English | MEDLINE | ID: mdl-25552131

ABSTRACT

OBJECTIVE: To assess the impact on staff communication of a standardized checklist for timeout for patients undergoing a trial of labor after cesarean section and/or elective induction at term. STUDY DESIGN: A comparison of presurvey and postsurvey questionnaire results for labor and delivery personnel assessing communication before and after checklist implementation. RESULTS: From October 2011 through March 2012, 52.9% (N=37) of 70 eligible patients had the standardized checklist for timeout performed. Prior to implementation of the checklist, 66% of respondents (48.8% of nurses, 100% of residents, 90% of attendings) slightly or strongly agreed that their opinions were heard versus 83% of respondents during the study period (73.7% of nurses, 100% of residents, 100% of attendings). Following the intervention, nurses reported that they were more likely to feel as though their opinions were heard (p = 0.05). CONCLUSION: Implementation of a formalized obstetric timeout improved the subjective perception of communication among obstetric staff. This tool has the potential to improve patient safety in labor and delivery.


Subject(s)
Checklist/methods , Checklist/standards , Communication , Nurse-Patient Relations , Patient Safety/standards , Trial of Labor , Vaginal Birth after Cesarean/methods , Vaginal Birth after Cesarean/standards , Female , Humans , Nurses , Pilot Projects , Pregnancy , Quality Improvement , Surveys and Questionnaires , Vaginal Birth after Cesarean/nursing
18.
Fertil Steril ; 99(7): 2037-44.e3, 2013 Jun.
Article in English | MEDLINE | ID: mdl-23498890

ABSTRACT

OBJECTIVE: To measure the level of distress and its relationship with other psychologic factors in women with diminished ovarian reserve (DOR) who participated in a fragile X genetics study. DESIGN: Longitudinal data analyzed with structural equation modeling. SETTING: Four U.S. private and academic fertility centers. PATIENT(S): Sixty-two infertile patients with DOR. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Fertility Problem Inventory, Coping Scale for Infertile Couples, Rosenberg Self-Esteem, Health Orientation Scale. RESULT(S): Nineteen percent had low fertility distress, 56% had average fertility distress, and 24% had high fertility distress. Thirty-six percent self-reported a "favorable" or "very favorable" emotional response to potentially being a fragile X carrier (termed "emotions"), 53% were "ambivalent," and 11% had an unfavorable reaction. Three months after learning that they were not a carrier, these percentages were 91%, 9%, and 0%, respectively. Emotions at this second time point were significantly more positive than at pretesting. At baseline, higher self-esteem was a significant predictor of reduced fertility distress both directly and indirectly through emotions. Fertility distress was not associated with coping. Self-esteem, fertility distress, pretesting emotions, and coping were unrelated to posttesting emotions. CONCLUSION(S): The potential of having an explanation for one's DOR condition may have a beneficial impact on women's psychologic states during the process of genetic testing, and this appeared to be especially true for women with higher self-esteem. Psychologic interventions targeted to women with low self-esteem may reduce distress and improve reactions to genetic testing.


Subject(s)
Adaptation, Psychological , Cost of Illness , Fertility/genetics , Fragile X Syndrome/psychology , Genetic Testing , Heterozygote , Infertility, Female/psychology , Primary Ovarian Insufficiency/psychology , Self Concept , Stress, Psychological/psychology , Adult , Emotions , Female , Fragile X Syndrome/diagnosis , Fragile X Syndrome/genetics , Fragile X Syndrome/physiopathology , Genetic Carrier Screening , Genetic Counseling , Genetic Predisposition to Disease , Genetic Testing/methods , Humans , Infertility, Female/diagnosis , Infertility, Female/genetics , Infertility, Female/physiopathology , Longitudinal Studies , Phenotype , Primary Ovarian Insufficiency/diagnosis , Primary Ovarian Insufficiency/genetics , Primary Ovarian Insufficiency/physiopathology , Psychometrics , Surveys and Questionnaires , United States
20.
Article in English | MEDLINE | ID: mdl-22966246

ABSTRACT

Others have studied acupuncture treatment for polycystic ovary syndrome (PCOS). Anti-müllerian hormone (AMH) is positively correlated with the ovarian follicle pool, thus making it a useful ovarian reserve measure. AMH is elevated in women with PCOS and has been suggested as a diagnostic tool. This study examined the impact of electroacupuncture on AMH concentration in women with PCOS. Seventy-one women with PCOS participated in a randomized, double-blind, sham-controlled clinical trial of acupuncture. Three longitudinal AMH samples over the 5-month protocol were compared with objective ovulation parameters primarily using nonparametric statistics. Results indicated that AMH levels in PCOS were higher than published norms in women without PCOS. There was no difference between the true and sham acupuncture arms in the change in AMH longitudinally. Baseline AMH, but not the change in AMH over time, was inversely correlated with ovulation and menstrual cycle frequencies in both arms combined (P < 0.001). In conclusion, AMH correlated with an increased likelihood of monthly ovulation, as expected from the literature on women without PCOS. The lack of difference by intervention in AMH was consistent with the underlying clinical trial. AMH may be clinically useful to predict which PCOS women are more likely to respond to an intervention.

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