RESUMEN
DESIGN: This study surveyed patients with stored frozen embryos and developed and tested an intervention through a randomized trial to support subjects to consider embryo disposition options (EDOs), especially donation for family building. METHODS: Based on a review of literature on EDOs, the authors developed and mailed a 2-page anonymous survey to 1,053 patients in Massachusetts (USA) to elicit their feelings about their stored embryos. Target patients had embryos cryopreserved for ≥1 year and had not indicated an EDO. Survey respondents were next randomized between usual care (control arm) or an offer of complimentary counseling and educational support regarding EDOs. These counseling sessions were conducted by a licensed mental health professional specializing in infertility treatment. RESULTS: Despite telephone reminders, only 21.3% of patients responded, likely reflecting most patients' reluctance to address EDOs. Respondents endorsed an average of 2 of the 5 EDOs, with the following percentages supporting each option: store for future attempts (82%), continue storage (79%), donate to research (29%), discard (14%), and donate for family building (13%). When asked their opinions towards embryo donation to another couple, 78% of patients agreed that donation is a way to help another couple, 48% would consider embryo donation to another family if they had a better understanding of the process, and 38% would be willing to consider donation if they were not going to use the embryos themselves, but 73% expressed discomfort with donation. In the randomized trial, 7.8% of intervention subjects (n = 8) obtained counseling sessions compared to 0.0% (none) of usual care subjects (p = 0.0069). Counseling participants valued not only discussing EDOs, but also assistance in expressing their feelings and differences with their partners. CONCLUSION: Improvement in counseling rates over the control arm suggests that free professional counseling is a small, but likely effective, step towards deciding on an EDO. ClinicalTrials.gov Identifier: NCT01883934 (Frozen embryo donation study).
Asunto(s)
Consejo , Criopreservación , Destinación del Embrión , Fertilización In Vitro , Adulto , Femenino , Humanos , MassachusettsRESUMEN
Menopause and the associated declines in ovarian function are major health issues for women. Despite the widespread health impact of this process, the molecular mechanisms underlying the aging-specific decline in ovarian function are almost completely unknown. To provide the first gene-protein analysis of the ovarian transition to menopause, we have established and contrasted RNA gene expression profiles and protein localization and content patterns in healthy young and perimenopausal mouse ovaries. We report a clear distinction in specific mRNA and protein levels that are noted prior to molecular evidence of steroidogenic failure. In this model, ovarian reproductive aging displays similarities with chronic inflammation and increased sensitivity to environmental cues. Overall, our results indicate the presence of mouse climacteric genes that are likely to be major players in aging-dependent changes in ovarian function.
Asunto(s)
Menopausia/genética , Ovario/metabolismo , Envejecimiento , Animales , Femenino , Perfilación de la Expresión Génica , Regulación de la Expresión Génica , Genómica , Menopausia/metabolismo , Ratones , Ratones Endogámicos C57BL , Ovario/anatomía & histología , Perimenopausia , Proteínas/metabolismo , Proteómica , ARN Mensajero/metabolismo , Distribución TisularRESUMEN
OBJECTIVE: Formin-2 (Fmn2) mutant mice produce oocytes with meiosis I arrest. Our aim was to describe the human FORMIN-2 (FMN2) gene and to identify DNA sequence polymorphisms in patients with unexplained infertility and multiple failed IVF cycles. DESIGN: Institutional review board-approved observational case-control study. SETTING: Infertility center and university hospital. PATIENT(S): Sixty-two fertile controls and seven subjects with unexplained infertility. INTERVENTION(S): BLASTP (www.ncbi.nlm.nih.gov) was used to map the genomic DNA and complementary DNA sequence of FMN2. Genomic DNA was extracted from blood leukocyte samples. The polymerase chain reaction was used to amplify FMN2 gene exons for analysis by denaturing gradient gel electrophoresis. MAIN OUTCOME MEASURE(S): Characterization of the FMN2 gene and identification of fragment melting polymorphisms (FMPs). RESULT(S): FMN2 includes 411,960 base pairs (bp) of DNA with 6,204 bp in 18 exons. There was no difference in FMN2 FMP allele frequencies between the controls and subjects. One patient was homozygous for one FMP. CONCLUSION(S): The human FMN2 gene is conserved between evolutionarily diverse vertebrates. It is likely that FMN2 has the same function as Fmn2 in the mouse (i.e., maintenance of the meiotic spindle). Prospective identification of patients with meiosis I arrest is necessary to determine whether FMN2 mutations are a cause of unexplained infertility.
Asunto(s)
Genes/fisiología , Infertilidad Femenina/genética , Proteínas del Tejido Nervioso/genética , Adulto , Animales , Estudios de Casos y Controles , Análisis Mutacional de ADN/métodos , Femenino , Frecuencia de los Genes/genética , Humanos , Infertilidad Femenina/diagnóstico , Infertilidad Femenina/patología , Meiosis/genética , Ratones , Proteínas del Tejido Nervioso/química , Reacción en Cadena de la Polimerasa/métodosRESUMEN
UNLABELLED: To determine the risk of death in pregnant women with Turner syndrome who were treated with oocyte donation, and to ascertain the prevalence of preconception cardiac screening in these patients. DESIGN: Survey and literature review. SETTING: Academic infertility center. PARTICIPANT(S): All 258 donor-egg programs in the 1997 Assisted Reproductive Technology Success Rates publication from the Society for Artificial Reproductive Technology were surveyed by fax or telephone. MAIN OUTCOME MEASURE(S): Death in pregnancy conceived through oocyte donation and proportion of patients prescreened with echocardiography. RESULTS: One hundred thirty-four (52%) programs reported 146 Turner patients treated, resulting in 101 pregnancies. One patient died from aortic rupture while awaiting treatment; 72 (49.3%) patients were pre- screened with echocardiography. No deaths in pregnancy were reported. A literature review identified four case reports of Turner patients who died during pregnancy in the United States during the same time period. CONCLUSION(S): The maternal risk of death from rupture or dissection of the aorta in pregnancy may be 2% or higher. Patients with Turner syndrome have not been adequately screened with echocardiography before treatment. Specialists who treat patients with Turner syndrome need to be aware of their cardiac risk and its potential exacerbation from the increased cardiac demands of pregnancy.