RESUMO
PURPOSE: The unacceptable multiple gestation rate currently associated with in vitro fertilization (IVF) would be substantially alleviated if the routine practice of transferring more than one embryo were reconsidered. While transferring a single embryo is an effective method to reduce the clinical problem of multiple gestation, rigid adherence to this approach has been criticized for negatively impacting clinical pregnancy success in IVF. In general, single embryo transfer is viewed cautiously by IVF patients although greater acceptance would result from a more effective embryo selection method. METHODS: Selection of one embryo for fresh transfer on the basis of chromosomal normalcy should achieve the dual objective of maintaining satisfactory clinical pregnancy rates and minimizing the multiple gestation problem, because embryo aneuploidy is a major contributing factor in implantation failure and miscarriage in IVF. The initial techniques for preimplantation genetic screening unfortunately lacked sufficient sensitivity and did not yield the expected results in IVF. However, newer molecular genetic methods could be incorporated with standard IVF to bring the goal of single embryo transfer within reach. RESULTS: Aiming to make multiple embryo transfers obsolete and unnecessary, and recognizing that array comparative genomic hybridization (aCGH) will typically require an additional 12 h of laboratory time to complete, we propose adopting aCGH for mainstream use in clinical IVF practice. CONCLUSION: As aCGH technology continues to develop and becomes increasingly available at lower cost, it may soon be considered unusual for IVF laboratories to select a single embryo for fresh transfer without regard to its chromosomal competency. In this report, we provide a rationale supporting aCGH as the preferred methodology to provide a comprehensive genetic assessment of the single embryo before fresh transfer in IVF. The logistics and cost of integrating aCGH with IVF to enable fresh embryo transfer are also discussed.
Assuntos
Hibridização Genômica Comparativa , Diagnóstico Pré-Implantação , Transferência de Embrião Único , Feminino , Fertilização in vitro , Humanos , GravidezRESUMO
BACKGROUND: To report on relationships among baseline serum anti-Müllerian hormone (AMH) measurements, blastocyst development and other selected embryology parameters observed in non-donor oocyte IVF cycles. METHODS: Pre-treatment AMH was measured in patients undergoing IVF (n = 79) and retrospectively correlated to in vitro embryo development noted during culture. RESULTS: Mean (+/- SD) age for study patients in this study group was 36.3 ± 4.0 (range = 28-45) yrs, and mean (+/- SD) terminal serum estradiol during IVF was 5929 +/- 4056 pmol/l. A moderate positive correlation (0.49; 95% CI 0.31 to 0.65) was noted between basal serum AMH and number of MII oocytes retrieved. Similarly, a moderate positive correlation (0.44) was observed between serum AMH and number of early cleavage-stage embryos (95% CI 0.24 to 0.61), suggesting a relationship between serum AMH and embryo development in IVF. Of note, serum AMH levels at baseline were significantly different for patients who did and did not undergo blastocyst transfer (15.6 vs. 10.9 pmol/l; p = 0.029). CONCLUSIONS: While serum AMH has found increasing application as a predictor of ovarian reserve for patients prior to IVF, its roles to estimate in vitro embryo morphology and potential to advance to blastocyst stage have not been extensively investigated. These data suggest that baseline serum AMH determinations can help forecast blastocyst developmental during IVF. Serum AMH measured before treatment may assist patients, clinicians and embryologists as scheduling of embryo transfer is outlined. Additional studies are needed to confirm these correlations and to better define the role of baseline serum AMH level in the prediction of blastocyst formation.
Assuntos
Hormônio Antimülleriano/sangue , Blastocisto/fisiologia , Desenvolvimento Embrionário/fisiologia , Fertilização in vitro , Adulto , Blastocisto/citologia , Técnicas de Cultura Embrionária , Feminino , Humanos , Pessoa de Meia-Idade , Análise Multivariada , Gravidez , Taxa de Gravidez , Estudos RetrospectivosRESUMO
BACKGROUND: Guidelines for safe gamete donation have emphasised donor screening, although none exist specifically for testing oocyte recipients. Pre-treatment assessment of anonymous donor oocyte IVF treatment in Ireland must comply with the European Union Tissues and Cells Directive (Directive 2004/23/EC). To determine the effectiveness of this Directive when applied to anonymous oocyte recipients in IVF, we reviewed data derived from selected screening tests performed in this clinical setting. METHODS: Data from tests conducted at baseline for all women enrolling as recipients (n = 225) in the anonymous oocyte donor IVF programme at an urban IVF referral centre during a 24-month period were analysed. Patient age at programme entry and clinical pregnancy rate were also tabulated. All recipients had at least one prior negative test for HIV, Hepatitis B/C, chlamydia, gonorrhoea and syphilis performed by her GP or other primary care provider before reproductive endocrinology consultation. RESULTS: Mean (±SD) age for donor egg IVF recipients was 40.7 ± 4.2 yrs. No baseline positive chlamydia, gonorrhoea or syphilis screening results were identified among recipients for anonymous oocyte donation IVF during the assessment interval. Mean pregnancy rate (per embryo transfer) in this group was 50.5%. CONCLUSION: When tests for HIV, Hepatitis B/C, chlamydia, gonorrhoea and syphilis already have been confirmed to be negative before starting the anonymous donor oocyte IVF sequence, additional (repeat) testing on the recipient contributes no new clinical information that would influence treatment in this setting. Patient safety does not appear to be enhanced by application of Directive 2004/23/EC to recipients of anonymous donor oocyte IVF treatment. Given the absence of evidence to quantify risk, this practice is difficult to justify when applied to this low-risk population.
Assuntos
Fertilização in vitro/normas , Doação de Oócitos , Infecções Sexualmente Transmissíveis/diagnóstico , Adulto , Confidencialidade , Feminino , Fertilização in vitro/métodos , Humanos , Irlanda , Programas de Rastreamento/métodos , Programas de Rastreamento/normas , Guias de Prática Clínica como Assunto , Gravidez , Taxa de GravidezRESUMO
This analysis reports on Irish regulatory policies for in vitro fertilisation (IVF) from 2004-2009, in the context of membership changes within the Medical Council of Ireland. To achieve this, the current (2009) edition of the Guide to Professional Conduct & Ethics was compared with the immediately preceding version (2004). The statutory composition of the Medical Council from 2004-2009 was also studied. Content analysis of the two editions identified the following differences: 1) The 2004 guide states that IVF "should only be used after thorough investigation has failed to reveal a treatable cause of the infertility", while the 2009 guide indicates IVF "should only be used after thorough investigation has shown that no other treatment is likely to be effective"; 2) The 2004 stipulation stating that fertilized ovum (embryo) "must be used for normal implantation and must not be deliberately destroyed" is absent from the 2009 guidelines; 3) The option to donate "unused fertilised ova" (embryos) is omitted from the 2009 guidelines; 4) The 2009 guidelines state that ART should be offered only by "suitably qualified professionals, in appropriate facilities, and according to the international best practice"; 5) The 2009 guidelines introduce criteria that donations as part of a donor programme should be "altruistic and non-commercial". These last two points represent original regulatory efforts not appearing in the 2004 edition. The Medical Practitioners Act 2007 reduced the number of physicians on the Medical Council to 6 (of 25) members. The ethical guidelines from 2004 preceded this change, while the reconstituted Medical Council published the 2009 version. Between 2004 and 2009, substantial modifications in reproductive health policy were incorporated into the Medical Council's ethical guidelines. The absence of controlling Irish legislation means that patients and IVF providers in Ireland must rely upon these guidelines by default. Our critique traces the evolution of public policy on IVF during a time when the membership of the Medical Council changed radically; reduced physician contribution to decision-making was associated with diminished protection for IVF-derived embryos in Ireland. Considerable uncertainty on IVF practice in Ireland remains.
RESUMO
The influence of host genotype on the expression of induced resistance was examined in several cultivars of spring barley (Hordeum vulgare). Induced resistance was activated using a combination of elicitors (acibenzolar- S-methyl, ß-aminobutyric acid, and cis-jasmone) shown in previous work to induce resistance effectively in barley. The barley cultivars examined were Cellar, Chalice, Decanter, Oxbridge, Tipple, Troon, and Westminster, which differed in their genetic resistance to two major pathogens of barley, Rhynchosporium secalis and Blumeria graminis f. sp. hordei. Controlled-environment studies showed that, although the elicitor combination reduced levels of R. secalis in all but one cultivar, the magnitude of the reduction differed among cultivars. Similar results were obtained in field experiments in 2007, 2008, and 2009, although there was inconsistency in cultivar effects between years, with the elicitor providing disease control in some cultivars in some years and not others. Use of the elicitor combination produced no significant effect on grain yield compared with untreated plants in most cases, although significant increases in grain yield were obtained with the elicitor treatment in two cultivars in 2007 and one cultivar in 2009. Analysis of the defense-related enzyme cinnamyl alcohol dehydrogenase in leaf samples from the field experiment in 2007 showed that activity of the enzyme was already high prior to elicitor application, although activity was increased further in one cultivar following elicitor treatment. It is possible, therefore, that these plants were already induced. Further work is required to confirm this and to determine whether prior induction has any bearing on the variable disease control obtained from elicitors in spring barley.
RESUMO
BACKGROUND: Premature ovarian failure (POF) remains a clinically challenging entity because in vitro fertilisation (IVF) with donor oocytes is currently the only treatment known to be effective. METHODS: A 33 year-old nulligravid patient with a normal karyotype was diagnosed with POF; she had a history of failed fertility treatments and had an elevated serum FSH (42 mIU/ml). Oocytes donated by her dizygotic twin sister were used for IVF. The donor had already completed a successful pregnancy herself and subsequently produced a total of 10 oocytes after a combined FSH/LH superovulation regime. These eggs were fertilised with sperm from the recipient's husband via intracytoplasmic injection and two fresh embryos were transferred to the recipient on day three. RESULTS: A healthy twin pregnancy resulted from IVF; two boys were delivered by caesarean section at 39 weeks' gestation. Additionally, four embryos were cryopreserved for the recipient's future use. The sister-donor achieved another natural pregnancy six months after oocyte retrieval, resulting in a healthy singleton delivery. CONCLUSION: POF is believed to affect approximately 1% of reproductive age females, and POF patients with a sister who can be an oocyte donor for IVF are rare. Most such IVF patients will conceive from treatment using oocytes from an anonymous oocyte donor. This is the first report of births following sister-donor oocyte IVF in Ireland. Indeed, while sister-donor IVF has been successfully undertaken by IVF units elsewhere, this is the only known case where oocyte donation involved twin sisters. As with all types of donor gamete therapy, pre-treatment counselling is important in the circumstance of sister oocyte donation.
Assuntos
Doação Dirigida de Tecido , Fertilização in vitro , Infertilidade Feminina/terapia , Prole de Múltiplos Nascimentos , Insuficiência Ovariana Primária/terapia , Irmãos , Adulto , Feminino , Fertilização in vitro/métodos , Humanos , Recém-Nascido , Masculino , Doação de Oócitos/métodos , Gravidez , Insuficiência Ovariana Primária/complicações , Gêmeos/fisiologiaRESUMO
BACKGROUND: This investigation describes features of patients undergoing in vitro fertilisation (IVF) and embryo transfer (ET) where both gametes were obtained from anonymous donors. METHODS: Gamete unsuitability or loss was confirmed in both members of seven otherwise healthy couples presenting for reproductive endocrinology consultation over a 12-month interval in Ireland. IVF was undertaken with fresh oocytes provided by anonymous donors in Ukraine; frozen sperm (anonymous donor) was obtained from a licensed tissue establishment. For recipients, saline-enhanced sonography was used to assess intrauterine contour with endometrial preparation via transdermal estrogen. RESULTS: Among commissioning couples, mean+/-SD female and male age was 41.9 +/- 3.7 and 44.6 +/- 3.5 yrs, respectively. During this period, female age for non dual anonymous gamete donation IVF patients was 37.9 +/- 3 yrs (p < 0.001). Infertility duration was >/=3 yrs for couples enrolling in dual gamete donation, and each had >/=2 prior failed fertility treatments using native oocytes. All seven recipient couples proceeded to embryo transfer, although one patient had two transfers. Clinical pregnancy was achieved for 5/7 (71.4%) patients. Non-transferred cryopreserved embryos were available for all seven couples. CONCLUSIONS: Mean age of females undergoing dual anonymous donor gamete donation with IVF is significantly higher than the background IVF patient population. Even when neither partner is able to contribute any gametes for IVF, the clinical pregnancy rate per transfer can be satisfactory if both anonymous egg and sperm donation are used concurrently. Our report emphasises the role of pre-treatment counselling in dual anonymous gamete donation, and presents a coordinated screening and treatment approach in IVF where this option may be contemplated.
RESUMO
PURPOSE: The impact of the advanced reproductive technologies on multiple gestation has been well documented in several large populations, but only infrequently in smaller countries, where its effects may be different. This study estimated domestic in vitro fertilisation (IVF) use and multiple gestation rate in Ireland based on two data-reporting platforms. METHODS: The number of IVF cycles completed in Ireland was extrapolated from statistics reported to the central European fertility registry (ESHRE) between 1999 and 2004. Multiple gestation data during this period were obtained from the National Perinatal Reporting System (NPRS). These datasets were interlocked to offer a method to track the impact of IVF activity on background multiple gestation rate in Ireland. RESULTS: Total Irish births registered increased from 54,307 in 1999 to 62,406 in 2004, and multiple gestation rate (per 1,000) fluctuated non-linearly from 27.2 to 31.4 during this time. Reported IVF activity increased from 972 in 1999 to 1,705 in 2004. Annual incidence of multiple gestation appeared strongly correlated with annual number of ETs although statistical significance was not reached (unadjusted Spearman correlation coefficient = 0.6; p = 0.21). CONCLUSION: Although IVF providers must continue to reduce multiple births by limiting the number of embryos transferred, this study places national IVF activity in the context of multiple gestations recorded in the general Irish population. These datasets suggest the number of patients undergoing IVF increased steadily in Ireland from 1999 to 2004, but a similar increase in multiple gestation was not observed in the overall Irish population during our study interval. While it is reassuring that increased use of IVF in Ireland did not significantly influence the multiple gestation rate, the absence of a formal data collection method hampers direct and comprehensive monitoring of this phenomenon here.
Assuntos
Coeficiente de Natalidade/tendências , Fertilização in vitro/estatística & dados numéricos , Fertilização in vitro/tendências , Prole de Múltiplos Nascimentos/estatística & dados numéricos , Gravidez Múltipla/estatística & dados numéricos , Adulto , Feminino , Humanos , Irlanda/epidemiologia , Idade Materna , Gravidez , Sistema de Registros/estatística & dados numéricosRESUMO
BACKGROUND: To present a diagnostic evaluation and treatment strategy for serous adenocarcinoma of the ovary discovered during an in vitro fertilisation (IVF) sequence, and report on reproductive outcome after tumour resection and embryo transfer. CASE PRESENTATION: Cycle monitoring in IVF identified an abnormal ovarian lesion which was subjected to ultrasound-guided needle aspiration. Cytology suggested malignancy, and unilateral oophorectomy was performed after formal staging. After surgery, the patient underwent an anonymous donor oocyte IVF cycle which established a viable twin intrauterine pregnancy. No recurrence of cancer has been detected in the >72 month follow-up interval; mother and twin daughters continue to do well. CONCLUSION: Suspicious adnexal structures noted during controlled ovarian hyperstimulation for IVF warrant assessment, and this report confirms the role of aspiration cytology in such cases. If uterine conservation is possible, successful livebirth can be achieved from IVF if donor oocyes are utilised, as described here.
Assuntos
Cistadenocarcinoma Seroso/cirurgia , Fertilização in vitro , Neoplasias Ovarianas/cirurgia , Complicações Neoplásicas na Gravidez/cirurgia , Adulto , Cistadenocarcinoma Seroso/diagnóstico , Feminino , Humanos , Neoplasias Ovarianas/diagnóstico , Gravidez , Complicações Neoplásicas na Gravidez/diagnósticoRESUMO
BACKGROUND: This study sought to describe patient features before beginning fertility treatment, and to ascertain their perceptions relative to risk of twin pregnancy outcomes associated with such therapy. METHODS: Data on readiness for twin pregnancy outcome from in vitro fertilisation (IVF) was gathered from men and women before initiating fertility treatment by anonymous questionnaire. RESULTS: A total of 206 women and 204 men were sampled. Mean (+/- SD) age for women and men being 35.5 +/- 5 and 37.3 +/- 7 yrs, respectively. At least one IVF cycle had been attempted by 27.2% of patients and 33.9% of this subgroup had initiated >/=3 cycles, reflecting an increase in previous failed cycles over five years. Good agreement was noted between husbands and wives with respect to readiness for twins from IVF (77% agreement; Cohen's K = 0.61; 95% CI 0.53 to 0.70). CONCLUSION: Most patients contemplating IVF already have ideas about particular outcomes even before treatment begins, and suggests that husbands & wives are in general agreement on their readiness for twin pregnancy from IVF. However, fertility patients now may represent a more refractory population and therefore carry a more guarded prognosis. Patient preferences identified before IVF remain important, but further studies comparing pre- and post-treatment perceptions are needed.
RESUMO
BACKGROUND: A complete reproductive immunophenotype is poorly described, with most focus on peripheral blood natural killer cells rather than uterine populations. There is debate regarding normal endometrial levels, with no consensus, and much controversy on correlation with implantation/miscarriage. AIMS: Development and validation of a rapid endometrial assessment flow cytometry (FCM) technique, allowing determination of local lymphocyte subset ranges, comparison to peripheral blood, and patient subgroup analysis. METHODS: Prospective pilot, assessing patients with prior implantation, failure offered endometrial biopsy before subsequent ART cycle, functioning as therapeutic scratch. HRT regime administered to standardise environment, and progesterone-primed mid-luteal biopsy (five completed days progestogen, P+5) analysed using comprehensive flow panel to identify lymphocyte subsets. RESULTS: Two hundred patients were recruited in a tertiary university-affiliated ART centre. FCM identified differing lymphocyte ranges between peripheral blood and biopsy. Uterine/decidual natural killer cells are the dominant endometrial subtype. Patients with repeated implantation failure had higher uNK levels (52.4 vs 43.7%, p = 0.01). Conversely, B lymphocytes (0.87 vs 0.72%, p = 0.032), pNK (1.21 vs 0.8%, p = 0.041), and NK-T (2.68 vs 2.26, p = 0.031) cells were higher in recurrent pregnancy loss. CONCLUSION: FCM is widely used to assess cellular populations, but not typically employed for endometrial evaluation. FCM provides a rapid, detailed, and quantitative analysis and reduces inter-observer subjectivity bias. Detailed understanding of the normal endometrial immunophenotype, and associated deviations, may provide insight into the aetiology of infertile patients labelled "unexplained". Failure despite transfer of high grade, or proven euploid blastocysts, is a difficult problem, and endometrial profiling may help identify research areas to determine potential future therapeutic interventions for this difficult to treat population.
Assuntos
Imunofenotipagem/métodos , Células Matadoras Naturais/imunologia , Contagem de Linfócitos/métodos , História Reprodutiva , Útero/irrigação sanguínea , Útero/imunologia , Adulto , Feminino , Humanos , Projetos Piloto , Gravidez , Estudos ProspectivosRESUMO
Essure (Bayer) received approval from the U.S. Food and Drugs Administration as a permanent non-hormonal contraceptive implant in November 2002. While the use of Essure in the management of hydrosalpinx prior to in vitro fertilization (IVF) remains off-label, it has been used specifically for this purpose since at least 2007. Although most published reports on Essure placement before IVF have been reassuring, clinical experience remains limited, and no randomized studies have demonstrated the safety or efficacy of Essure in this context. In fact, no published guidelines deal with patient selection or counseling regarding the Essure procedure specifically in the context of IVF. Although Essure is an irreversible birth control option, some patients request the surgical removal of the implants for various reasons. While these patients could eventually undergo hysterectomy, at present no standardized technique exists for simple Essure removal with conservation of the uterus. This article emphasizes new aspects of the Essure procedure, as we describe the first known association between the placement of Essure implants and the subsequent development of fluid within the uterine cavity, which resolved after the surgical removal of both devices.
Assuntos
Imunoglobulina G/uso terapêutico , Imunoglobulinas Intravenosas/uso terapêutico , Imunossupressores/uso terapêutico , Receptores do Fator de Necrose Tumoral/uso terapêutico , Fator de Necrose Tumoral alfa/antagonistas & inibidores , Adulto , Cesárea , Etanercepte , Feminino , Humanos , Recém-Nascido , Masculino , Gravidez , RecidivaRESUMO
The ability of the resistance elicitors acibenzolar-S-methyl (ASM), ß-aminobutyric acid (BABA), cis-jasmone (CJ), and a combination of the three products, to control infection of spring barley by Rhynchosporium commune was examined under glasshouse conditions. Significant control of R. commune was provided by ASM and CJ, but the largest reduction in infection was obtained with the combination of the three elicitors. This elicitor combination was found to up-regulate the expression of PR-1b, which is used as a molecular marker for systemic acquired resistance (SAR). However, the elicitor combination also down-regulated the expression of LOX2, a gene involved in the biosynthesis of jasmonic acid (JA). In field experiments over 3 consecutive years, the effects of the elicitor combination were influenced greatly by crop variety and by year. For example, the elicitor combination applied on its own provided significant control of powdery mildew (Blumeria graminis f.sp. hordei) and R. commune in 2009, whereas no control on either variety was observed in 2007. In contrast, treatments involving both the elicitor combination and fungicides provided disease control and yield increases which were equal to, and in some cases better than that provided by the best fungicide-only treatment. The prospects for the use of elicitor plus fungicide treatments to control foliar pathogens of spring barley in practice are discussed.
RESUMO
OBJECTIVE: To measure Irish opinion on a range of assisted human reproduction (AHR) treatments. METHODS: A nationally representative sample of Irish adults (n=1,003) were anonymously sampled by telephone survey. RESULTS: Most participants (77%) agreed that any fertility services offered internationally should also be available in Ireland, although only a small minority of the general Irish population had personal familiarity with AHR or infertility. This sample finds substantial agreement (63%) that the Government of Ireland should introduce legislation covering AHR. The range of support for gamete donation in Ireland ranged from 53% to 83%, depending on how donor privacy and disclosure policies are presented. For example, donation where the donor agrees to be contacted by the child born following donation, and anonymous donation where donor privacy is completely protected by law were supported by 68% and 66%, respectively. The least popular (53%) donor gamete treatment type appeared to be donation where the donor consents to be involved in the future life of any child born as a result of donor fertility treatment. Respondents in social class ABC1 (58%), age 18 to 24 (62%), age 25 to 34 (60%), or without children (61%) were more likely to favour this donor treatment policy in our sample. CONCLUSION: This is the first nationwide assessment of Irish public opinion on the advanced reproductive technologies since 2005. Access to a wide range of AHR treatment was supported by all subgroups studied. Public opinion concerning specific types of AHR treatment varied, yet general support for the need for national AHR legislation was reported by 63% of this national sample. Contemporary views on AHR remain largely consistent with the Commission for Assisted Human Reproduction recommendations from 2005, although further research is needed to clarify exactly how popular opinion on these issues has changed. It appears that legislation allowing for the full range of donation options (and not mandating disclosure of donor identity at a stipulated age) would better align with current Irish public opinion.
RESUMO
OBJECTIVE: Anonymous oocyte donation and participation in organ and blood/tissue donation programmes were studied specifically among Irish fertility patients. METHODS: An anonymous questionnaire measured patient perceptions of, and participation in, blood/organ/tissue donor programmes, and to record opinion on anonymous donor oocyte compensation. RESULTS: A total of 337 patents were sampled; 56.7% had no children. None had participated in a donor oocyte programme either as donor or recipient. At baseline, 19.6% had previous in vitro fertilisation experience, more than one-third (35.9%) had donated blood anonymously, 19.9% were organ/tissue donors and 52.2% indicated that anonymous oocyte donors should receive some compensation. We found patients with infertility for extended periods were more likely to view oocyte donation favourably, compared to those with infertility of shorter durations (p = 0.022, by Krusksal-Wallis Rank Sum test). Average recommended compensation for anonymous oocyte donor was euro 2177 (range euro 200-euro 9500), and most (77.2%) favoured confidential protections for recipient and donor identity. CONCLUSION: This is the first investigation of blood and organ/tissue donation features among fertility patients in Ireland; the rate of blood donation in this group was more than 10 times higher than in the general Irish population. Protection of anonymity for both donors and recipients was supported by most patients, even opponents of compensated anonymous donation. Further studies should clarify patient perceptions about oocyte donation as a function of involvement in organ/tissue procurement programmes and blood banks.
Assuntos
Conhecimentos, Atitudes e Prática em Saúde , Infertilidade Feminina , Doação de Oócitos , Adulto , Doadores de Sangue , Feminino , Humanos , Irlanda , Inquéritos e Questionários , Obtenção de Tecidos e ÓrgãosRESUMO
Ethylmalonic encephalopathy (EE) is an autosomally recessive inherited disorder with a relentlessly progressive decline in neurological function, usually fatal by the age of ten. It is characterised by generalised hypotonia, psychomotor regression, spastic tetraparesis, dystonia, seizures and, eventually, global neurological failure. Approximately 50 reports have been published worldwide describing this devastating disease, most involving patients of Mediterranean or Arab origin. The fundamental defect in EE likely involves the impairment of a mitochondrial sulphur dioxygenase coded by the ETHE1 gene responsible for the catabolism of sulphide, which subsequently accumulates to toxic levels. A diagnosis of EE should initiate careful genetic evaluation and counselling, particularly if the parents intend to have additional offspring. The present report describes the diagnosis of EE in a reproductive endocrinology context, where both members of a non-consanguineous couple were confirmed to be carriers of an identical Aâ·G mutation. This previously unknown mutation at nucleotide position c.494 resulted in an amino acid substitution, p.Asp165Gly. Although consideration was given to in vitro fertilisation, embryo biopsy and single gene pre-implantation genetic diagnosis, the couple decided to first utilise a less aggressive therapeutic approach with donor sperm insemination. Pregnancy with a low risk of EE was indeed achieved; however, the infant was affected with a different anomaly (hypoplastic left heart). As this case demonstrates, prior to the initiation of fertility therapy, genetic analysis may be used to provide a confirmatory diagnosis when EE is suspected.
RESUMO
These data suggest that the physiologic stress associated with two consecutive freeze-thaw processes is likely minor. Dual freeze-thaw of embryos does not appear to adversely impact delivery rate in IVF; a livebirth delivery rate of 35.7% per transfer was observed in our population.
Assuntos
Criopreservação/métodos , Criopreservação/estatística & dados numéricos , Transferência Embrionária/métodos , Fertilização in vitro/métodos , Resultado da Gravidez , Taxa de Gravidez , Adulto , Feminino , Humanos , Gravidez , Estudos RetrospectivosRESUMO
BACKGROUND: This study assessed pharmacy performance and satisfaction as reported by patients during ovulation induction therapy. MATERIALS AND METHODS: Patients (n = 1269) receiving gonadotropin prescriptions for intrauterine insemination or in vitro fertilisation-embryo transfer in 2007-2008 were prospectively interviewed by nurses and/or completed a structured questionnaire to evaluate pharmacy performance. "Community" (n = 12) and "specialty" (n = 2) pharmacy status (C vs. S) was defined by each pharmacy, and all pharmacies were selected by patients before cycle start. Patient comments about their pharmacy were classified into five types: i) Dispensing error-gonadotropin, ii) Dispensing error-non gonadotropin, iii) Mistake in prescribed medical equipment/supplies, iv) Counselling/communication inaccuracy, and v) Inventory problem or other. RESULTS: 391 pharmacy concerns were reported from 150 fertility patients during the study period. The majority (75.9%) of patients selected a S pharmacy to fill their prescriptions, and this pharmacy type was identified in 2.8% of adverse pharmacy encounters (p < 0.0001). Non-gonadotropin prescriptions filled at C pharmacies accounted for 40.2% of all complaints, followed by problems with prescriptions for supplies (20.2%) and gonadotropins (18.7%) at C pharmacies. Patient conflict involving S pharmacies was limited (n = 11), and related to operating hours and medication delivery logistics. CONCLUSION: Fertility patients reported a disproportionate and significantly higher number of adverse pharmacy encounters from C pharmacies compared to S pharmacies. Although no licensing mechanism in Ireland currently recognises special training or certification in any area of pharmacy practice, informal self-designations by pharmacies remain a useful discriminator. Level of familiarity with fertility medicines and availability of inventory are important characteristics to be considered when counselling fertility patients about pharmacy choice. Those who select a C pharmacy should be advised to allow extra time for inventory verification, order confirmation, and additional counselling. Additional study is needed to determine if a minimum volume of fertility-related prescriptions is necessary to assure competence in this particular field of pharmacy practice.
RESUMO
Aims: Exposure to a structured curriculum in reproductive medicine during medical school is helpful given the high frequency of fertility and pregnancy-related issues that future physicians will encounter. This study sought to evaluate a new reproductive medicine module for medical students. Study Design: Prospective cohort study. Place and Duration of Study: Dublin, Ireland; 2008-2010. Methodology: A new educational module in reproductive medicine for upper-level medical students was initiated in 2008 at the Royal College of Surgeons in Ireland (RCSI). The module included reproductive endocrinology lectures, laboratory sessions, and direct observation of clinical consultations as a required component of an obstetrics and gynaecology rotation. Students were assigned to this module on the basis of random allocation by departmental administration. The current investigation used an anonymous questionnaire and a MCQ exam to measure academic performance and student acceptance of this module, at launch and again two years later. The first sampling was from the pilot class in 2008 and a second group was evaluated in 2010. No student was in both groups. Results: 42 of 66 students completed the evaluation in 2008, and 71 of 98 did so in 2010. Mean±SD medical student age and average examination scores were comparable for the two groups. In both samples, most students (95.5%) had no prior lectures on reproductive endocrinology, and most indicated improvement in their level of understanding after the module. Both laboratory and clinical features were scored highly by students. Conclusion: At present, there is no standardised medical student curriculum for reproductive medicine in Ireland. This report is the first to describe a structured learning experience in this subspecialty area for medical students in Ireland. Additional studies are planned to track knowledge acquisition and career impact specific to reproductive medicine based on this module.