RESUMO
PURPOSE: To present a case describing the birth of a healthy female after the replacement of vitrified biopsied embryos after Preimplantation Genetic Diagnosis. METHOD: A descriptive case report of a single patient. RESULTS: Our patient carrier of an X-linked disease became pregnant and as a result a healthy girl was born. CONCLUSIONS: This report shows that blastocysts obtained from biopsied embryos can be successfully cryopreserved by a simple, secure and low-cost vitrification method using a Hemi-straw support.
Assuntos
Blastocisto/citologia , Criopreservação , Resultado da Gravidez , Adulto , Biópsia , Feminino , Triagem de Portadores Genéticos , Humanos , Masculino , Distrofia Muscular de Duchenne/genética , GravidezRESUMO
BACKGROUND: This study aims to report the experiences and attitudes of patients who have undergone preimplantation genetic diagnosis (PGD). The extent to which this technique is acceptable to the individuals for whom it is intended is relatively unexplored, and remains a crucial issue that may ultimately determine the value of PGD as an alternative to prenatal diagnosis in high-risk couples. METHODS: An information sheet and questionnaire was distributed to 67 couples who had been treated at the Hammersmith Hospital, London and the Dexeus Institute, Barcelona. RESULTS: One-third of patients had an affected child, over half had previous experience of conventional prenatal diagnosis and over one-third had had terminations of pregnancy because of a genetic risk. Patients perceive the main advantage of PGD to be that only unaffected embryos are transferred to the uterus and thus therapeutic termination of pregnancy can be avoided; the main disadvantage is the low success rate. A total of 41% of patients found the treatment cycle extremely stressful, and, of the 20 patients who had experienced both prenatal diagnosis and PGD, 40% of patients found PGD less stressful, although 35% experienced more stress. Of those couples who contemplated a further pregnancy 76% would choose PGD, 16% would opt for prenatal diagnosis, and 8% no tests at all. CONCLUSIONS: The experience of prenatal diagnosis and termination of pregnancy can be an unwelcome memory and this leads to a demand for an alternative approach. Our data suggest that PGD is acceptable to patients and is a valuable alternative to prenatal diagnosis.
Assuntos
Conhecimentos, Atitudes e Prática em Saúde , Pacientes , Diagnóstico Pré-Implantação , Aborto Induzido , Adulto , Feminino , Humanos , Aceitação pelo Paciente de Cuidados de Saúde , Gravidez , Resultado da Gravidez , Diagnóstico Pré-Implantação/efeitos adversos , Diagnóstico Pré-Natal/efeitos adversos , Estresse Fisiológico/etiologiaRESUMO
OBJECTIVE: To compare the efficacy and efficiency of recombinant FSH (rFSH) and urinary FSH (uFSH). DESIGN: Retrospective case controlled analysis. SETTING: An assisted reproduction unit at a university center. PATIENT(S): 1388 patients undergoing long protocol in vitro fertilization/embryo transfer (IVF-ET) using buserelin acetate from day 2 of the cycle and either rFSH (follitropin beta) (n = 694) or uFSH (n = 694) with equal number of ampules started (rFSH: 50 IU, uFSH: 75 IU). INTERVENTION(S): Patients were included in the two groups of treatment after matching for similarity in age and type of treatment (IVF or intracytoplasmic sperm injection). MAIN OUTCOME MEASURE(S): Total dose of FSH, ovarian response, and IVF outcome. RESULT(S): Patients who received uFSH experienced a shorter period of stimulation, and a higher number of oocytes were collected. The total FSH used was lower in the rFSH group, and they required a lower FSH dose per oocyte retrieved. The implantation and pregnancy rates were similar between the uFSH and rFSH groups. In both groups implantation and pregnancy rates were higher when intracytoplasmic sperm injection was performed as compared with IVF. CONCLUSION(S): The implantation and pregnancy rates are similar when either rFSH or uFSH is used (when compared on an ampule-to-ampule basis, rFSH: 50 IU, and uFSH: 75 IU). However, a significantly lower total FSH dose was used in the rFSH group with a lower FSH dose per oocyte collected.
Assuntos
Hormônio Foliculoestimulante/farmacologia , Indução da Ovulação/métodos , Adulto , Fatores Etários , Estudos de Casos e Controles , Transferência Embrionária , Estradiol/sangue , Feminino , Fertilização in vitro , Hormônio Foliculoestimulante/administração & dosagem , Hormônio Foliculoestimulante/urina , Humanos , Folículo Ovariano/fisiologia , Gravidez , Proteínas Recombinantes/administração & dosagem , Proteínas Recombinantes/farmacologia , Estudos Retrospectivos , Injeções de Esperma IntracitoplásmicasRESUMO
OBJECTIVE: To determine whether the time taken to achieve ovarian suppression has an impact on ovarian responsiveness and the outcome of IVF-ET. DESIGN: Retrospective analysis. SETTING: An assisted reproduction unit at a university center. PATIENT(S): Patients undergoing a long protocol of IVF-ET that included buserelin acetate therapy initiated on day 2 of the cycle and recombinant FSH. INTERVENTION(S): Patients were divided into two groups according to the duration of buserelin acetate therapy required to achieve pituitary and ovarian suppression (group 1 = 2 weeks, n = 172; group 2 = > or =3 weeks, n = 337). MAIN OUTCOME MEASURE(S): Number of recombinant FSH ampules administered, duration of ovarian stimulation (days), ovarian response, and IVF outcome. RESULT(S): The patients in group 2 had lower mean E2 levels after 5 days and 9 days of stimulation than the patients in group 1. The number of recombinant FSH ampules administered and the number of days of stimulation required were higher in group 2 than in group 1. These differences were prominent in the subgroups of older patients (> or =36 years) and patients who had no evidence of polycystic ovaries on ultrasound examination. The number of oocytes retrieved and fertilized, the cancelation rate, and the pregnancy rate were similar in the two groups. CONCLUSION(S): Prolonged administration of a GnRH agonist to achieve suppression leads to a reduced ovarian response, particularly in women > or =36 years of age, but does not affect the success rate of IVF-ET.
Assuntos
Busserrelina/uso terapêutico , Fármacos para a Fertilidade Feminina/uso terapêutico , Fertilização in vitro , Hormônio Foliculoestimulante/uso terapêutico , Infertilidade Feminina/terapia , Ovário/fisiologia , Adulto , Feminino , Hormônio Liberador de Gonadotropina/agonistas , Humanos , Idade Materna , Ciclo Menstrual/efeitos dos fármacos , Ciclo Menstrual/fisiologia , Oócitos/efeitos dos fármacos , Oócitos/fisiologia , Ovário/efeitos dos fármacos , Gravidez , Taxa de Gravidez , Proteínas Recombinantes/uso terapêutico , Estudos Retrospectivos , Estatísticas não Paramétricas , Resultado do TratamentoRESUMO
Research in the field of preimplantation genetic diagnosis (PGD) has concentrated on increasing the number of diseases diagnosed, different strategies for single cell analysis and improving efficiency and reliability. Of equal importance are clinical issues such as the demand for and cost of PGD. This study assesses patient awareness of PGD and its potential benefits; additionally the awareness, attitudes and referral patterns of Assisted Conception Units, Regional Genetics Centres and Health Authorities (funding bodies) have been analysed to establish the demand for PGD within the United Kingdom. The licensed units are able to perform 128 cycles of PGD annually, however 256 cases were referred within the last year. It is clear that the currently licensed units operating at their present capacity are unable to meet the demand for PGD in the U.K. Concerns raised by this study include the unequal geographical distribution of PGD services and the lack of a uniform funding policy by Health Authorities. The investment in personnel and technology to establish a PGD service is considered and a costing provided. We estimate an initial investment in the region of 139,000 Pounds with annual running costs of 55,000 Pounds. This information should contribute towards an appropriate allocation of resources at a national level in the U.K.