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To investigate the influence of the Single Nucleotide Polymorphisms (SNPs) TP53 rs1625895, TP73 rs3765730, MMP9 rs17576, and MTHFR rs868014 on ovarian reserve (OR) in infertile patients.A prospective cross-sectional study was carried out in 145 infertile women. The patients were divided into two groups according to ovarian reserve, characterized by association between AMH levels and AFC:After patient distribution, both groups were compared (LOR X NOR) regarding the genotypes of the SNPs TP53 T/C rs1625895, TP73 G/A rs3765730, MMP9 Gln/Arg rs17576, and MTHFR A/G rs868014.The frequency of the TP53-T/T genotype was greater in the LOR and the TP53-C/C genotype was more frequent in patients with NOR. This association was confirmed by the frequency of alleles, where the presence of the T allele was significantly higher in patients who exhibited LOR (P = 0.0003). The frequency of the TP73-G/G genotype and of the G allele was higher in the LOR group (P = 0.01). Considering the MMP9 gene, the frequency of the Gln/Gln genotype was higher in the LOR group. However, the Gln/Arg genotype and the Arg allele prevailed in the NOR group (P = 0.006). The frequency of the MTHFR-A/A genotype was higher in the LOR group, whereas that of the MTHFR-GG genotype was higher in the NOR group. The presence of allele A was significantly higher in the LOR group (P = 0.002). The regression analysis shows that patients who present the TP53-T/T, TP73-G/G, MMP9-Gln/Gln, and MTHFR-A/A genotypes are 3.6X, 3.1X, 3.2X, and 3.7X more likely of having LOR, respectively. In addition, the association of the TP53/TT + TP73/GG genotypes increased the chance of women being included in the LOR group in 5.7-fold.The genotypes TP53-T/T, TP73-G/G, MMP9-Gln/Gln, and MTHFR-A/A increase the chance of women to exhibit LOR. These polymorphisms could be useful as genetic markers of low ovarian reserve in infertile patients.

Objective To assess the viability of the early diagnosis of fetal gender in maternal plasma before 7 weeks of pregnancy by real-time polymerase chain reaction (real-time PCR), starting at 5 weeks of pregnancy. Method Peripheral blood was collected from pregnant women, starting at 5 weeks of gestation. After centrifugation, plasma was separated for fetal DNA extraction. DNA was analyzed by quantitative real-time PCR for two genomic regions, one on the Y chromosome (DYS-14) and the other shared by both sexes (s-globin), by the TaqMan Minor Groove Binder (MGB) probe assay. The results of the examinations were compared to fetal gender determined after delivery. Results A total of 79 examinations of fetal DNA in maternal plasma were performed for 52 pregnant women. Accuracy according to gestational age was 92.6% (25 of 27 cases) at 5 weeks, and 95.6% (22 of 23 cases) at 6 weeks. These results also demonstrate that fetal DNA is present at low concentrations in maternal plasma at 5 weeks (8.5 genome equivalents (GE)/mL) and 6 weeks (34.1 GE/mL) of pregnancy. Conclusion Quantitative real-time PCR and TaqMan MGB probes specific for the detection of fetal gender in maternal plasma starting at 5 weeks of gestation have good sensitivity and excellent specificity. Copyright  2006 John Wiley & Sons, Ltd.

Objetivos: atrasos no desenvolvimento do saco gestacional (SG), no tamanho do botão embrionário (CCN), assim como freqüências cardíacas embrionárias (FCE) baixas podem ser considerados fatores de mau prognóstico na evolução da gestação. O objetivo deste trabalho foi avaliar a utilização destes 3 parâmetros em conjunto, o que denominamos Teste Triplo Biofísico (TTB). Metodo: foram avaliadas 35 gestações únicas provenientes de fertilização assistida por injeção intracitoplasmática de espermatozóide (ICSI). Todos os exames de ultra-som foram realizados por um único examinador, após 4-5 semanas da transferência de embriões (6-7 semanas de gestação), com equipamento modelo Synergy da Diasonics, sonda transvaginal de 7,0 MHz. O SG foi medido em seu maior diâmetro transverso, o CCN foi medido no sentido sagital e a FCE pelo modo B-M e Doppler. Na análise estatística foi utilizado o teste de Fisher. Resultados: considerou-se como parâmetros alterados : SG < 15,4 mm; CCN < 3,9 mm e FCE < 100 bpm. Estes parâmetros foram calculados como média menos 1 desvio padrão das gestações em evolução (n = 32). As pacientes definidas com TTB positivo, isto é, as de risco para o aborto, foram aquelas que apresentaram pelo menos 2 parâmetros alterados. Das 35 gestações, o TTB foi positivo em 5, todas as 3 que abortaram e 2 que não abortaram. A diferença entre as que abortaram e as que evoluíram foi altamente significante (p = 0,0015; t-Fisher). A sensibilidade do método foi de 100%, com especificidade de 93,75%, o que resultou em uma eficácia de 96,87%. Conclusão: o TTB é um método ultra-sonográfico não-invasivo e apresenta uma alta eficácia na avaliação prognóstica da gestação inicial.

Submitted by Vitor Silverio Rodrigues (vitorsrodrigues@reitoria.unesp.br) on 2014-05-27T11:26:24Z No. of bitstreams: 0Bitstream added on 2014-05-27T14:47:37Z : No. of bitstreams: 1 2-s2.0-84859569822.pdf: 147395 bytes, checksum: f6fa5ba4e5a12693a3376cebc6a40b6d (MD5) Made available in DSpace on 2014-05-27T11:26:24Z (GMT). No. of bitstreams: 0 Previous issue date: 2012-03-01 PURPOSE: To compare the diagnostic accuracy of sonohysterography (HSN) and conventional transvaginal ultrasound (USG) in assessing the uterine cavity of infertile women candidate to assisted reproduction techniques (ART). METHODS: Comparative cross-sectional study with 120 infertile women candidate to ART, assisted at Centro de Reprodução Assistida (CRA) of Hospital Regional da Asa Sul (HRAS), Brasília-DF, from August 2009 to November 2010. Sonohysterography was performed with saline solution infusion in a close system. The sonohysterography finding was compared to previous USG results. The uterine cavity was considered abnormal whenthe endometrium was found to be thicker than expectedduring the menstrual cycle and whenan endometrial polyp, a submucous myoma and an abnormal shape of the uterine cavity were observed. The statistical analysis was doneusing absolute frequencies, percentage values and the χ 2, with the level of significance set at5%. RESULTS:HSN revealed that 92 (76.7%) infertile women candidate to ARThad anormal uterine cavity, while 28 (23.3%) had the following abnormalities: 15 polyps (12.5%). Serviço de Reprodução Humana da Unidade de Ginecologia e Obstetrícia do Hospital Regional da Asa Sul-HRAS Secretaria de Estado de Saúde do Distrito Federal-SES/DF, Brasília (DF) Curso de Medicina da Universidade Católica de Brasília-UCB, Brasília (DF) Programa de Pós-Graduação em Ginecologia, Obstetrícia e Mastologia da Faculdade de Medicina de Botucatu da Universidade Estadual Paulista úlio de Mesquita Filho-UNESP, Botucatu (SP) Departamento de Ginecologia e Obstetrícia da Faculdade de Medicina de Botucatu da Universidade Estadual Paulista Júlio de Mesquita Filho-UNESP, Botucatu (SP) Trabalho realizado no Serviço de Reprodução Humana-SRH Hospital Regional da Asa Sul-HRAS Secretaria de Estado de Saúde do Distrito Federal-SES/DF, Brasília (DF) Programa de Pós-Graduação em Ginecologia, Obstetrícia e Mastologia da Faculdade de Medicina de Botucatu da Universidade Estadual Paulista úlio de Mesquita Filho-UNESP, Botucatu (SP) Departamento de Ginecologia e Obstetrícia da Faculdade de Medicina de Botucatu da Universidade Estadual Paulista Júlio de Mesquita Filho-UNESP, Botucatu (SP)

OBJETIVO: avaliar a incidência e tipos de malformações congênitas maiores (MCM) em crianças concebidas por injeção intracitoplasmática de espermatozóides (ICSI) e nascidas vivas. MÉTODOS: um total de 680 crianças nasceram vivas de 511 casais submetidos à ICSI no período de janeiro de 1999 a dezembro de 2002. A coleta de dados das crianças foi procedida por meio de questionário padronizado e exame clínico. Dos 511 casais, 366 foram contatados para amostragem de 371 gestações. Das 680 crianças nascidas vivas, 520 foram avaliadas, 250 delas (48,1%) por meio de questionário e 270 (51,9%) por questionário e exame físico. Duzentas e cinqüenta crianças foram de gestação única e 270 de gestação múltipla. Na análise das malformações congênitas foi empregada a 10ª Revisão da Classificação Internacional de Doenças. Nesse estudo foram analisadas apenas as MCM. A incidência de MCM foi comparada à da população geral obtida pelo Estudo Colaborativo Latino-Americano de Malformações Congênitas. A análise estatística foi feita usando o teste do chi2 (nível de significância p0,05), que teve 2,6% de incidência de MCM. As malformações mais freqüentes foram as de origem cardíaca (quatro isoladas e duas associadas), correspondendo a 40% do total. Os outros tipos de MCM foram: renal (três), defeito de fechamento do tubo neural (dois), defeito do crânio (um), lábio leporino (um), genital (um), síndrome de Down (associada à cardiopatia) (dois) e músculo-esquelética (um). Seis MCM ocorreram em crianças provenientes de gestações únicas e nove de gestações múltiplas. CONCLUSÃO: as crianças concebidas por ICSI e nascidas vivas apresentaram incidência de malformações congênitas maiores (2,9%) próximo ao esperado para a população geral (2,6%). Entretanto, para estabelecer com precisão os riscos de MCM é necessária continuidade na avaliação das crianças concebidas por ICSI. PURPOSE: to evaluate the incidence and types of major congenital malformations (MCM) in liveborn children conceived by intracytoplasmic sperm injection (ICSI). METHODS: a total of 680 liveborn children resulted from 511 couples submitted to ICSI from January, 1999 to December, 2002. Data collection of the children was performed through standardized questionnaire and clinical examination. Of the 511 couples, 366 had been contacted for a sampling of 371 gestations. Of the 680 liveborn, 520 had been evaluated, 250 of them (48.1%) through questionnaire and 270 (51.9%) through questionnaire and physical examination. Two hundred and fifty children were from singleton pregnancies and 270 from multiple pregnancies. Malformations were classified according to the 10th revision of the International Statistical Classification of Diseases and Related Health. Only MCM were analyzed in this study. The incidence of MCM was compared with that of the general population obtained by the Latin American Collaborative Study of Congenital Malformations. The statistical analysis was performed by the c² test (level of significance p0.05), which showed 2.6% incidence of MCM. The most frequent malformations were of cardiac origin (four isolated and two associated), corresponding to 40% of the total. The other types of MCM were: renal (three), neural tube (two), skull (one), cleft lip (one), genital (one), Down syndrome (associated with cardiac malformations) (two), and musculoskeletal (one). Six MCM occurred in children from singleton pregnancies and nine in children from multiple pregnancies. CONCLUSION: the liveborn children conceived by ICSI presented incidence of major congenital malformations (2.9%) near to the expected for the general population (2.6%). However, to establish the risks of MCM with precision it is necessary to continue the evaluation of the children conceived by ICSI.

OBJETIVO: avaliar a possibilidade do diagnóstico precoce do sexo fetal no plasma materno pela técnica da reação em cadeia da polimerase em tempo real (PCR em tempo real) a partir da 5ª semana de gestação. MÉTODOS: nesse estudo prospectivo foi coletado sangue periférico de gestantes com feto único a partir da 5ª semana de gestação. Após centrifugação do sangue, 0,4 mL de plasma foi separado para extração de DNA fetal. O DNA foi analisado em duplicata por PCR em tempo real para duas regiões genômicas (uma do cromossomo Y e outra comum a ambos os sexos) pelo método de TaqMan®, o qual utiliza um par de primers e uma sonda fluorescente. Foram excluídos da amostragem os casos que evoluíram para aborto. Para o cálculo da sensibilidade e especificidade, usamos o método de comparação com padrão-ouro, que foi o sexo ao nascimento. RESULTADOS: foram realizados 79 exames de DNA fetal no plasma materno de 52 gestantes. O resultado dos exames foi comparado com o sexo da criança após o parto. O índice de acerto conforme a idade gestacional foi de 92,6% (25 de 27 casos) na 5ª semana, conferindo sensibilidade de 87% e 95,6% (22 de 23 casos) na 6ª semana, com sensibilidade de 92%. A partir da 7ª semana de gestação o acerto foi em 100% (29 de 29 casos). A especificidade foi de 100% independente da idade gestacional. CONCLUSÕES: a técnica de PCR em tempo real para detecção do sexo fetal a partir da 5ª semana no plasma materno possui boa sensibilidade e excelente especificidade. Houve concordância do resultado em 100% dos casos em que o diagnóstico foi masculino, independente da idade gestacional, e no caso de feminino, a partir da 7ª semana de gestação. PURPOSE: to verify the viability of early diagnosis of fetal gender in maternal plasma by the real-time polymerase chain reaction (real-time PCR) starting at the 5th week of pregnancy. METHODS: peripheral blood was collected from pregnant women with single fetus starting at the 5th week of gestation. After centrifugation, 0.4 mL plasma was separated for fetal DNA extraction. The DNA was analyzed in duplicate by real-time PCR for two genomic regions, one of the Y chromosome and the other common to both sexes, through the TaqMan® method, which uses a pair of primers and a fluorescent probe. Patients who aborted were excluded. RESULTS: a total of 79 determinations of fetal DNA in maternal plasma were performed in 52 pregnant women. The results of the determinations were compared to fetal gender after delivery. Accuracy according to gestational age was 92.6% (25 of 27 cases) at 5 weeks with 87% sensitivity, and 95.6% (22 of 23 cases) at 6 weeks with 92% sensitivity. Starting at the 7th week of pregnancy, accuracy was 100% (29 of 29 cases). Specificity was 100% regardless of gestational age. CONCLUSION: real-time PCR for the detection of fetal gender in maternal plasma starting at the 5th week of gestation has good sensitivity and excellent specificity. There was agreement of the results in 100% of the cases in which male gender was diagnosed, regardless of gestational age, and from the 7th week of gestation for female gender diagnosis.

To determine whether the use of ultrasound (US) to guide embryo transfer (ET) in a population previously defined as likely to have easy transfer would change the implantation and pregnancy rates in an ICSI program.A total of 100 patients identified as likely to have easy transfer after mock transfer were divided into two groups: Group I, US-guided ET (N = 50) and Group II, ET without the aid of US (N = 50).Implantation and pregnancy rates were similar (p = 0.51, p = 0.29) for Group I (19.6%, 42%) and Group II (16.3%, 30%), as also was the abortion rate (p = 0.55) (Group I: 1/21; Group II: 2/15).As long as previous mock transfers are routinely performed during a cycle preceding assisted reproduction and the clinician considers transfer to be easy, ultrasound does not benefit the process of embryo transfer.

A total of 7 cycles of embryo transfer by oocyte donation were performed on 5 patients with premature ovary failure (POF). All donors were under 35 of age and the recipients average age was 38.6 years. For synchronization between donor and recipient a semi programmed menstrual cycle was used by means of oral contraceptive followed by ovarian stimulation of donor with clomiphene citrate and human menopausal gonadotrophin. The recipients were easily adjusted to the donors by a flexible model of gradually increasing doses of estradiol valerianate. The average number of oocytes donated was 3.14 and average embryo cleavage rate was 80.2%. The average number of embryos transferred was 2.57. Embryo implantation rate was 22.2%. Clinical gestations occurred in 57.1% of the cycles. This series is probably the first one in Brazilian literature on oocyte donation as treatment for infertility in patients with premature ovarian failure. Um total de 7 ciclos de transferência de embriões provenientes da doação de oócitos foram realizados em 5 pacientes portadoras de insuficiência ovariana precoce. As doadoras possuíam idade inferior a 35 anos, e as receptoras, apresentavam idade média de 38.6 anos. No esquema de sincronização entre doadora e receptora usou-se um ciclo semiprogramado com pílula, seguido de estimulação da doadora com citrato de clomifeno e gonadotrofina menopausal humana. As receptoras foram facilmente acopladas com as doadoras através de um modelo flexível de doses crescentes de valerianato de estradiol. O número médio de oócitos doados foi de 3.14, a taxa de clivagem embrionária média de 80.2%, sendo o número médio de embriões transferidos de 2.57. A taxa de implantação embrionária foi de 22,2%. As gestações clínicas ocorreram em 57,1% dos ciclos. Provavelmente, essa série é a primeira apresentada na literatura nacional sobre a doação de oócitos no tratamento da infertilidade em pacientes com insuficiência ovariana precoce.

In view of the contradictory results of IUI reported in the literature, the present study was undertaken to determine whether the volume of material injected into the uterus can affect the delivery site of the sperm. Ten infertile women scheduled for HSG were submitted to intrauterine injection of different volumes of radiopaque dye (0.2 mL to 1.0 mL) before the procedure to mimic IUI. An x ray taken immediately after injection showed that volumes of > or = 0.4 mL reached the uterus and tubes, whereas the 0.2-mL volume did not reach the tube. These data show that volume injected is an important variable in IUI.