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1.
Ceska Gynekol ; 84(3): 177-183, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31324106

RESUMO

INTRODUCTION: A successful embryo implantation is crucial for a positive outcome of in vitro fertilization. But there is only a short period during which the endometrium is receptive for embryo, this so called implantation window can be detected by a molecular diagnostic method endometrial receptivity analysis (ERA). OBJECTIVE: To find out the percentage of patients with a non-receptive endometrium in the time of ERA and to learn what part of them got pregnant after the identification of their personalized implantation window. DESIGN: A retrospective study. SETTING: REPROMEDA Biology Park, Centre of Reproductive Medicine and Preimplantation Genetic Diagnosis, Brno. METHODS: A cohort of 85 patients undergoing ERA from August 2015 to October 2018 was studied. 74 patients experienced a previous implantation failure, the average number of preceding unsuccessful frozen embryo transfers was 2,5 in this group, 11 women went through ERA due to the preventive reason before the first FET. In all women one euploid embryo was transferred. 48 patients were prepared either for ERA or FET in a natural menstrual cycle, 37 women in HRT cycle. We were interested in a percentage of non-receptive patients in the time of ERA and wanted to discover what part of non-receptive women got pregnant after the identification of their personal implantation window. The average number of frozen embryo transfers needed to achieve the pregnancy was also calculated. RESULTS: 31 of 85 patients (36.5%) were found to have a non-receptive endometrium. In the natural cycle 13 of 48 (27.1%) were non-receptive: five were pre-receptive, three early receptive, two late receptive and three post-receptive. In the HRT cycle 18 of 37 patients (48.6%) were non-receptive: 12 were pre-receptive, four early receptive, one late receptive, one post-receptive. Personalized FET was done in 26 of total 31 initially non-receptive patients, 18 of them got pregnant (69.2%). In the natural cycle 6 of 11 (54.5%) achieved the pregnancy, in the HRT cycle 12 of 15 women (80.0%) got pregnant. To achieve the clinical pregnancy 1.5 frozen embryo transfer in average was needed. CONCLUSION: A displaced implantation window was found in more than 1/3 of patients undergoing an assisted reproductive treatment. After the personalized FET the clinical pregnancy was noticed in 69.2% of them. This result supports an individual approach to patients in IVF programme besides other at the timing of embryo transfer after the identification of pWOI.


Assuntos
Implantação do Embrião , Transferência Embrionária/métodos , Endométrio/fisiologia , Fertilização In Vitro/métodos , Infertilidade Feminina/terapia , Implantação do Embrião/fisiologia , Feminino , Humanos , Infertilidade Feminina/fisiopatologia , Gravidez , Taxa de Gravidez , Estudos Retrospectivos
2.
Ceska Gynekol ; 81(6): 437-443, 2016.
Artigo em Tcheco | MEDLINE | ID: mdl-27918162

RESUMO

OBJECTIVE: To present the results of molecular genetics analysis in men with reproductive disorders focusing on the DNA segments and genes which affect spermatogenesis. DESIGN: Original article. SETTING: Institute of Biology and Medical Genetics of the First Faculty of Medicine and General Teaching Hospital, Prague. METHODS: One hundred and twenty-three patients identified with a fertility disorder were screened for mutations of the CFTR gene. In all patients were performed cytogenic analysis and assessment of Y-chromosome microdeletions. In 107 patients where the fertility was not detected by routine examination we performed an analysis for X-chromosome microdeletions (CNV64, CNV67, CNV69) and in certain genes necessary for normal spermatogenesis (AGFG1, CAPZA3, CNTROB, HOOK1, GOPC, SPATA16). RESULTS: Our results did not reveal any negative efffects of X-chromosome microdeletion on spermatogenesis. Analysis of six genes showed in two patients in gene SPATA16 a homozygotic haplotype [1526C>T + 1577T>C] which can be most probably responsible for the fertility in two examined patients. CONCLUSION: According to our results we do not recommend introduction of X-chromosome microdeletions assays in areas CNV64 , CNV67 and CNV69 into routine diagnostic. Regarding the selected genes affecting spermatogenesis, our results showed that homozygotic haplotype [ 1526C>T + 1577T>C] in SPATA16 gene is very likely responsible for infertility in two of our patients. The above mentioned haplotype deserves attention in the investigation of male infertility.


Assuntos
Infertilidade Masculina/etiologia , Espermatogênese/genética , Haplótipos , Proteínas de Homeodomínio/genética , Humanos , Masculino , Proteínas de Transporte Vesicular
3.
Ceska Gynekol ; 81(3): 234-240, 2016.
Artigo em Tcheco | MEDLINE | ID: mdl-27882769

RESUMO

INTRODUCTION: During the 25th symposium of assisted reproduction in Brno was lunch time organised as the lunch table discussion on the selected topics of assisted reproduction. More than 150 specialists reviewed themes related to gynecology and embryology.Discussed topics: Lunch table discussion covered the following topics: (1) Cross-border health care in assisted reproduction; (2) Indication for PGS (preimplantation genetic screening) in the context of actual information; (3) Does ovarian stimulation belong to the ambulance of registering gynecologists? (4) Therapy with clomifen - only for IVF specialists? (5) How and with whom should psychological support be directed during IVF? (6) Stimulation in women with low ovarian reserve; (7) Is basic semen analyses sufficient? (8) Time-lapse systems as relevant markers of embryonic development; (9) How to be oriented with choices of media and consumables in the IVF lab, and (10) "Freeze All" - is this new trend in cryopreservation suitable for all? CONCLUSIONS: Panel conclusions were presented during the afternoon session, which had great attendance, featured lively commentary, and produced some definitive consensus. Certain issues remained inconclusive, and these matters will be the subject of further discussion in the future. Specific summation of all deductions is presented in this paper.

4.
Klin Onkol ; 29 Suppl 1: S31-4, 2016.
Artigo em Tcheco | MEDLINE | ID: mdl-26691940

RESUMO

BACKGROUND: The PALB2 (FANCN) gene was identified as a component of endogenous BRCA2 complex that encodes a DNA repair protein participating along with BRCA1 and BRCA 2 proteins in DNA double-strand break repair. Hereditary PALB2 mutations are associated with an increased risk of breast and pancreatic cancers in heterozygotes. Breast cancer risk for PALB2 mutation carriers has recently been estimated at 33-58% depending on family history of breast cancer; pancreatic cancer risk in carriers of PALB2 mutations has not been precisely quantified, yet. MATERIALS AND RESULTS: Results of a study identifying PALB2 mutations in high-risk, BRCA1/2-negative, breast and/or ovarian cancer patients in the Czech Republic indicate that the frequency of hereditary PALB2 mutations in our population is quite high. Interestingly, almost 20% of all recognized mutations comprised large genomic rearrangements. The highest proportion of PALB2 mutations (comparable with the number of mutations reported for BRCA2) was found in a subgroup of hereditary breast cancer patients (5.5%). Frequency of mutations in an independent group of Czech unselected pancreatic cancer patients was approximately 1.3%. CONCLUSION: Considering the frequency of pathogenic, hereditary PALB2 mutations in our population, their phenotypic similarity to BRCA2, and expected risk of breast cancer associated with PALB2 mutations, its screen-ing (including large genomic rearrangements) should be encouraged in patients from hereditary breast cancer families. The follow-up of pathogenic PALB2 mutation carriers should be similar to that in BRCA2 mutation carriers, enabling early diagnosis, prevention, and possible targeted therapy. Preventive surgical interventions for the carriers could be considered in case of strong family cancer history and evident segregation of a pathogenic mutation with a tumor phenotype. Additional analysis of various cancer patient populations and further meta-analyses will be necessary for accurate assessment of PALB2 gene penetrance and its significance for the risk of pancreatic and other cancers.


Assuntos
Testes Genéticos , Mutação , Proteínas Nucleares/genética , Proteínas Supressoras de Tumor/genética , Neoplasias da Mama/genética , Proteína do Grupo de Complementação N da Anemia de Fanconi , Feminino , Humanos
5.
Klin Onkol ; 29 Suppl 1: S93-9, 2016.
Artigo em Tcheco | MEDLINE | ID: mdl-26691949

RESUMO

BACKGROUND: Assisted reproduction, as well as pregnancy itself, in patients with breast cancer or other hereditary type of cancer, is a widely discussed topic. In the past, patients treated for breast cancer were rarely involved in the discussion about reproductive possibilities or infertility treatment. However, current knowledge suggests, that breast cancer is neither a contraindication to pregnancy, nor to assisted reproduction techniques. On the contrary, assisted reproduction and preimplantation genetic diagnosis methods might prevent the transmission of genetic risks to the fetus. AIM: In this review we summarize data concerning pregnancy risks in patients with increased risk of breast cancer. In addition, we introduce current possibilities and approaches to fertility preservation prior to assisted reproduction treatment as well as novel methods improving the safety of fertility treatment. In the second part of this review, we focus on karyomapping--an advanced molecular genetic tool for elimination of germinal mutations in patients with predisposition to cancer. Moreover, the rapid development of preimplantation genetic diagnosis methods contributes to detection of both chromosomal aneuploidy and causal mutations in a relatively short time-span.


Assuntos
Neoplasias da Mama/genética , Predisposição Genética para Doença , Testes Genéticos , Diagnóstico Pré-Implantação , Técnicas de Reprodução Assistida , Neoplasias da Mama/diagnóstico , Feminino , Humanos
6.
Hum Reprod ; 29(5): 880-903, 2014 May.
Artigo em Inglês | MEDLINE | ID: mdl-24619432

RESUMO

STUDY QUESTION: How do data in the 12th annual data collection (Data XII) of the European Society of Human Reproduction and Embryology Preimplantation Genetic Diagnosis (PGD) Consortium compare with the cumulative data for collections I-XI? SUMMARY ANSWER: Since the beginning of the data collections, there has been a steady increase in the number of cycles, pregnancies and babies reported annually. WHAT IS KNOWN ALREADY: The PGD Consortium has collected, analysed and published 11 previous data sets since 1997. STUDY DESIGN, SIZE, DURATION: Data were collected from each participating centre using a pre-designed FileMaker Pro database (versions 5-10). Separate FileMaker Pro files were used for the cycles, pregnancies and baby records. The study documented cycles performed during the calendar year 2009 and follow-up of the pregnancies and babies born which resulted from these cycles (until October 2010). PARTICIPANTS/MATERIALS, SETTING, METHODS: Data were submitted by 60 centres (full PGD Consortium members), and the blank files were distributed to each PGD Consortium member centre at the end of 2008. The submitted data were thoroughly analysed to identify incomplete data entries and corrections were requested from the participating centres. Records remaining with incomplete data were excluded from the calculations. Corrections, tables and calculations were made by expert co-authors. MAIN RESULTS AND THE ROLE OF CHANCE: For data collection XII, 60 centres reported data for 6160 cycles with oocyte retrieval (OR), along with details of the follow-up on 1607 pregnancies and 1238 babies born. A total of 870 OR were reported for chromosomal abnormalities, 113 OR for sexing for X-linked diseases, 1597 OR for monogenic diseases, 3551 OR for preimplantation genetic screening and 29 OR for social sexing. LIMITATIONS, REASONS FOR CAUTION: These data cannot include every PGD cycle performed annually, and only indicate the trends in PGD worldwide. WIDER IMPLICATION OF THE FINDINGS: The annual data collections provide an extremely valuable resource for data mining and for following trends in PGD practice. STUDY FUNDING/COMPETING INTEREST(S): None.


Assuntos
Bases de Dados Genéticas , Doenças Genéticas Inatas/diagnóstico , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , Taxa de Gravidez , Diagnóstico Pré-Implantação/métodos , Coleta de Dados , Feminino , Seguimentos , Humanos , Recuperação de Oócitos , Gravidez , Resultado da Gravidez
7.
Ceska Gynekol ; 78(4): 392-8, 2013 Aug.
Artigo em Tcheco | MEDLINE | ID: mdl-24040990

RESUMO

INTRODUCTION: Participants of the lunch table discussion held during the 22nd symposium of assisted reproduction in Brno discussed some current topics of assisted reproduction. DISCUSSED TOPICS: More than 150 participants at round tables discussed 10 topics: 1. IVF in native AR cycle,2. observation of the embryo development dynamics, 3. evaluation and support of endometrial receptivity,4. increased number of elective single embryo transfers (eSET), 5. transport of gametes and embryos in the Czech Republic and between the Czech Republic and abroad, 6. National registry of assisted reproduction,7. new view on sperm pathology, 8. problems with the SAR membership records, 9. surogacy motherhood and 10. preimplantation genetic diagnosis and preimplantation genetic screening. CONCLUSIONS: All findings were presented in the afternoon session. Some of the topics brought concrete results. Some topics could not be clearly concluded and will be the subject of further discussions. A brief summary of those discussion conclusions presents this paper.


Assuntos
Infertilidade Feminina , Sistema de Registros , Reprodução , Técnicas de Reprodução Assistida/tendências , Congressos como Assunto , República Tcheca/epidemiologia , Feminino , Humanos , Infertilidade Feminina/epidemiologia , Infertilidade Feminina/genética , Infertilidade Feminina/terapia , Morbidade , Gravidez , Diagnóstico Pré-Implantação
8.
Hum Reprod ; 26(1): 25-32, 2011 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-20966461

RESUMO

In 2005, the European Society for Human Reproduction and Embryology (ESHRE) PGD Consortium published a set of Guidelines for Best Practice PGD to give information, support and guidance to potential, existing and fledgling PGD programmes. The subsequent years have seen the introduction of new technologies as well as evolution of current techniques. Additionally, in light of recent advice from ESHRE on how practice guidelines should be written and formulated, the Consortium believed it was timely to revise and update the PGD guidelines. Rather than one document that covers all of PGD, the new guidelines are separated into four new documents that apply to different aspects of a PGD programme, i.e. organization of a PGD centre, fluorescence in situ hybridization (FISH)-based testing, amplification-based testing and polar body and embryo biopsy for PGD/preimplantation genetic screening (PGS). Here, we have updated the sections that pertain to FISH-based PGD. PGS has become a highly controversial technique. Opinions of laboratory specialists and clinicians interested in PGD and PGS have been taken into account here. Whereas some believe that PGS does not have a place in clinical medicine, others disagree; therefore, PGS has been included. This document should assist everyone interested in PGD/PGS in developing the best laboratory and clinical practice possible. Topics covered in this guideline include inclusion/exclusion criteria for FISH-based PGD testing, referrals and genetic counselling, preclinical validation of tests, FISH-based testing methods, spreading of cells for analysis, set-up of local IVF centre and transport PGD centres, quality control/ quality assurance and diagnostic confirmation of untransferred embryos.


Assuntos
Transtornos Cromossômicos/diagnóstico , Hibridização in Situ Fluorescente/métodos , Diagnóstico Pré-Implantação/métodos , Blastocisto , Aberrações Cromossômicas , Humanos , Controle de Qualidade , Análise para Determinação do Sexo , Manejo de Espécimes/normas
10.
Hum Reprod ; 25(4): 1051-65, 2010 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-20097923

RESUMO

Accreditation according to an internationally recognized standard is increasingly acknowledged as the single most effective route to comprehensive laboratory quality assurance, and many countries are progressively moving towards compulsory accreditation of medical testing laboratories. The ESHRE PGD Consortium and some regulatory bodies recommend that all PGD laboratories should be accredited or working actively towards accreditation, according to the internationally recognized standard ISO 15189, 'Medical laboratories-Particular requirements for quality and competence'. ISO 15189 requires comprehensive quality assurance. Detailed management and technical requirements are defined in the two major chapters. The management requirements address quality management including the quality policy and manual, document control, non-conformities and corrective actions, continual improvement, auditing, management review, contracts, referrals and resolution of complaints. Technical requirements include personnel competence (both technical and medical), equipment, accommodation and environment, and pre-analytical, analytical and post-analytical processes. Emphasis is placed on the particular requirements of patient care: notably sample identification and traceability, test validation and interpretation and reporting of results. Quality indicators must be developed to monitor contributions to patient care and continual improvement. We discuss the implementation of ISO 15189 with a specific emphasis on the PGD laboratory, highlight elements of particular importance or difficulty and provide suggestions of effective and efficient ways to obtain accreditation. The focus is on the European environment although the principles are globally applicable.


Assuntos
Acreditação/normas , Testes Genéticos/normas , Laboratórios/normas , Diagnóstico Pré-Implantação/normas , Europa (Continente) , Feminino , Humanos , Agências Internacionais , Gravidez , Garantia da Qualidade dos Cuidados de Saúde/normas
11.
Clin Genet ; 76(2): 195-204, 2009 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-19780766

RESUMO

UNLABELLED: SURF1 gene mutations are the most common cause of Leigh syndrome (LS), a rare progressive neurodegenerative disorder of infancy, characterized by symmetric necrotizing lesions and hypervascularity in the brainstem and basal ganglia, leading to death before the age of 4 years. Most of the reported mutations create premature termination codons, whereas missense mutations are rare. The aim of the study was to characterize the natural history of LS patients carrying at least one missense mutation in the SURF1 gene. Nineteen such patients (8 own cases and 11 reported in the literature) were compared with a reference group of 20 own c.845_846delCT homozygous patients, and with other LS(SURF-) cases described in the literature. Disease onset in the studied group was delayed. Acute failure to thrive and hyperventilation episodes were rare, respiratory failure did not appear before the age of 4 years. Dystonia, motor regression and eye movement dissociation developed slowly. The number of patients who survived 7 years of life totaled 9 out of 15 (60%) in the 'missense group' and 1 out of 26 (4%) patients with mutations leading to truncated proteins. IN CONCLUSION: (i) The presence of a missense mutation in the SURF1 gene may correlate with a milder course and longer survival of Leigh patients, (ii) normal magnetic resonance imaging (MRI) findings, normal blood lactate value, and only mild decrease of cytochrome c oxidase (COX) activity are not sufficient reasons to forego SURF1 mutation analysis in differential diagnosis.


Assuntos
Doença de Leigh/genética , Proteínas de Membrana/genética , Proteínas Mitocondriais/genética , Mutação de Sentido Incorreto/genética , Adolescente , Adulto , Western Blotting , Estudos de Casos e Controles , Extratos Celulares , Pré-Escolar , Análise Mutacional de DNA , Grupo com Ancestrais do Continente Europeu/genética , Feminino , Heterozigoto , Homozigoto , Humanos , Lactente , Doença de Leigh/patologia , Imagem por Ressonância Magnética , Masculino , Proteínas de Membrana/deficiência , Proteínas Mitocondriais/deficiência , Músculos/patologia , Linhagem , Fenótipo , Proteômica
12.
J Inherit Metab Dis ; 32 Suppl 12009 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-19688606

RESUMO

UNLABELLED: Congenital disorders of glycosylation (CDG) represent an expanding group of inherited diseases. One of them, ALG8 deficiency (CDG Ih), leads to protein N-glycosylation defects caused by malfunction of glucosyltransferase 2 (Dol-P-Glc:Glc1-Man(9)-GlcNAc(2)-P-P-Dol glucosyltransferase) resulting in inefficient addition of the second glucose residue onto lipid-linked oligosaccharides. So far, only five patients have been described with ALG8 deficiency. We present a new patient with neonatal onset. The girl was born at the 29th week of gestation complicated by oligohydramnios. Although the early postnatal adaptation was uneventful (Apgar score 8 and 9 at 5 and 10 min), generalized oedema, multifocal myoclonic seizures, and bleeding due to combined coagulopathy were present from the first day. Diarrhoea progressing to protein-losing enteropathy with ascites and pericardial effusion developed in the third week of life. Pharmacoresistant seizures and cortical, cerebellar and optic nerve atrophy indicated neurological involvement. No symptoms of liver disease except coagulopathy were observed; however, steatofibrosis with cholestasis was found at autopsy. The girl died at the age of 2 months owing to the progressive general oedema, bleeding and cardio-respiratory insufficiency. Molecular analysis revealed two heterozygous mutations in the ALG8 gene: c.139A>C (p.T47P) and the novel mutation c.1090C>T (p.R364X). CONCLUSION: The prognosis of patients with ALG8 deficiency is unfavourable. The majority of affected children have early onset of the disease with heterogeneous symptoms including multiple organ dysfunction, coagulopathy and protein-losing enteropathy. Neurological impairment is not a general clinical symptom, but it has to be taken into consideration when thinking about ALG8 deficiency.


Assuntos
Defeitos Congênitos da Glicosilação/enzimologia , Defeitos Congênitos da Glicosilação/genética , Glucosiltransferases/deficiência , Glucosiltransferases/genética , Mutação de Sentido Incorreto , Substituição de Aminoácidos , Defeitos Congênitos da Glicosilação/diagnóstico , Análise Mutacional de DNA , Evolução Fatal , Fígado Gorduroso/enzimologia , Fígado Gorduroso/genética , Feminino , Heterozigoto , Humanos , Lactente , Recém-Nascido , Proteínas Mutantes/genética
13.
Fetal Diagn Ther ; 22(4): 254-8, 2007.
Artigo em Inglês | MEDLINE | ID: mdl-17369690

RESUMO

OBJECTIVE: To measure levels of total plasma cysteine, homocysteine, cysteinylglycine and glutathione of normotensive primiparous pregnant women in the second and the third trimester. METHODS: Two consecutive blood samples were taken from 65 healthy primiparous women in the 19th to 21st weeks of pregnancy and then in the 30th to 32nd weeks. Plasma total cysteine, homocysteine, cysteinylglycine and glutathione were determined by HPLC method. Women were followed until delivery. Sixty-two pregnant women were normotensive throughout the pregnancy and 3 developed pre-eclampsia. Median levels of thiols in the second and the third trimesters were compared using paired t test. RESULTS: Levels (median [range], micromol/l) of plasma total cysteine in normotensive pregnant women were significantly lower in the third than in the mid-trimester (176.1 [163.0, 189.4] vs. 187.4 [178.7, 205.2], p < 0.001). Concentrations of total homocysteine, cysteinylglycine and glutathione were not different. CONCLUSION: Plasma total cysteine (t-Cys) is significantly lower in the third compared to the second trimester. Urinary excretion of t-Cys does not differ in the second compared to the third trimester. The decrease of t-Cys might indicate that cysteine is essential for the fetus.


Assuntos
Cisteína/sangue , Dipeptídeos/sangue , Glutationa/sangue , Homocisteína/sangue , Pré-Eclâmpsia/sangue , Gravidez/sangue , Adolescente , Adulto , Biomarcadores/sangue , Pressão Sanguínea , Cromatografia Líquida de Alta Pressão , Feminino , Humanos , Pré-Eclâmpsia/fisiopatologia , Segundo Trimestre da Gravidez/sangue , Terceiro Trimestre da Gravidez/sangue , Estudos Prospectivos
14.
Hum Reprod ; 22(2): 323-36, 2007 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-17132677

RESUMO

The sixth report of the ESHRE PGD Consortium is presented, relating to cycles collected for the calendar year 2003 and follow-up of the pregnancies and babies born up to October 2004. Since the beginning of the data collections, there has been a steady rise in the number of cycles, pregnancies and babies reported. For this report, 50 centres participated, reporting on 2984 cycles, 501 pregnancies and 373 babies born. Five hundred and twenty-nine cycles were reported for chromosomal abnormalities, 516 cycles were reported for monogenic diseases, 137 cycles were reported for sexing for X-linked diseases, 1722 cycles were reported for preimplantation genetic screening (PGS) and 80 cycles were reported for social sexing. Data VI is compared to the cumulative data for data collections I-V.


Assuntos
Doenças Genéticas Inatas/diagnóstico , Taxa de Gravidez , Diagnóstico Pré-Implantação , Aborto Espontâneo/diagnóstico , Aberrações Cromossômicas , Feminino , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , Humanos , Recém-Nascido , Masculino , Gravidez , Resultado da Gravidez , Pré-Seleção do Sexo
15.
Hum Reprod ; 21(1): 3-21, 2006 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-16172150

RESUMO

The fifth report of the ESHRE PGD Consortium is presented (data collection V). For the first time, the cycle data were collected for one calendar year (2002) in the following October, so that data collection was complete for pregnancies and babies. The data were collected using a Filemaker Pro database and divided into referrals, cycles, pregnancies and babies. There are currently 66 active centres registered with the consortium; however, the data presented here were obtained from 43 centres and included 1603 referrals, 2219 cycles, 485 pregnancies and 382 babies born. The cycle data were divided into preimplantation genetic diagnosis (PGD) for inherited disorders (including chromosome abnormalities, sexing for X-linked disease and monogenic disorders), aneuploidy screening (PGS) and the use of PGD for social sexing. Data collection V is compared with the previous cumulative data collection (I-IV), which comprised 4058 PGD/PGS cycles that reached oocyte retrieval.


Assuntos
Doenças Genéticas Inatas/diagnóstico , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , Taxa de Gravidez , Diagnóstico Pré-Implantação , Aneuploidia , Aberrações Cromossômicas , Feminino , Seguimentos , Humanos , Recém-Nascido , Masculino , Gravidez , Resultado da Gravidez
16.
Prenat Diagn ; 25(12): 1079-83, 2005 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-16231295

RESUMO

BACKGROUND: In this prospective study, we assessed the feasibility of fetal RH genotyping by analysis of DNA extracted from maternal plasma samples of alloimmunized pregnant women using real-time PCR and primers and probes targeted toward RHD (exon 7 and exon 10) and RHCE (intron 2 and exon 5) genes. METHODS: We analysed 23 alloimmunized pregnant women (16 anti-D, 5 anti-D + C, 2 anti-E) at risk of haemolytic disease of the newborn (HDN) within 11th and 37th week of pregnancy and correlated the results with serological analysis of cord blood. RESULTS AND CONCLUSION: Detection of the presence of the RHD gene, the C and/or E alleles of the RHCE gene in maternal plasma samples is highly accurate and enables implementation in a clinical diagnostic algorithm for following pregnancies at risk for HDN. The absence of RHD gene, the C and/or E alleles of RHCE gene in the current pregnancy excludes the risk of HDN caused by anti-D, anti-C and/or anti-E alloantibodies and the performance of invasive fetal-blood sampling.


Assuntos
Eritroblastose Fetal/diagnóstico , Eritroblastose Fetal/genética , Diagnóstico Pré-Natal/métodos , Isoimunização Rh/diagnóstico , Sistema do Grupo Sanguíneo Rh-Hr/genética , DNA/sangue , Eritroblastose Fetal/sangue , Feminino , Genótipo , Idade Gestacional , Humanos , Fenótipo , Reação em Cadeia da Polimerase , Gravidez , Estudos Prospectivos , Isoimunização Rh/sangue
17.
Physiol Res ; 54(3): 295-303, 2005.
Artigo em Inglês | MEDLINE | ID: mdl-15588157

RESUMO

Although several genetic factors have been implicated as determinants of blood folate concentration in various populations, their effect on folate status in the Czech population has not yet been examined. We explored whether blood folate concentrations in healthy Czech population are associated with polymorphisms in 5,10-methylenetetrahydrofolate reductase (MTHFR), folate hydrolase 1 (FOLH1), reduced folate carrier (RFC), and folate receptor (FOLR1) genes. In a cross-sectional study of 591 control subjects we determined genotypes by PCR-RFLP or ARMS-PCR methods, and plasma and erythrocyte folates by MEIA. The effect of different genotypes on folate status was examined by non-parametric tests and by regression analysis. The prevalence of the MTHFR 677C>T, MTHFR 1298A>C, FOLH1 1561C>T, RFC 80G>A and FOLR1 480G>C variant alleles was 0.34, 0.33, 0.05, 0.44 and 0.00, respectively. Only the MTHFR 677C>T variant was significantly associated with plasma folate concentrations (median 14.7, 14.0 and 12.2 nmol/l for the CC, CT and TT genotypes, respectively). Our study showed that among the five studied allelic variants, only the 677C>T polymorphism in the MTHFR gene is a significant genetic determinant of plasma folate concentrations in Czech population.


Assuntos
Hidrocarboneto de Aril Hidroxilases/genética , Ácido Fólico/administração & dosagem , Ácido Fólico/sangue , Neoplasias Pulmonares/enzimologia , Neoplasias Pulmonares/epidemiologia , Metilenotetra-Hidrofolato Desidrogenase (NAD+)/sangue , Metilenotetra-Hidrofolato Desidrogenase (NAD+)/genética , Medição de Risco/métodos , República Tcheca/epidemiologia , Análise Mutacional de DNA/métodos , Suplementos Nutricionais , Feminino , Predisposição Genética para Doença/epidemiologia , Testes Genéticos/métodos , Humanos , Neoplasias Pulmonares/genética , Masculino , Pessoa de Meia-Idade , Polimorfismo Genético , Fatores de Risco
18.
Acta Paediatr ; 93(10): 1312-7, 2004 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-15499950

RESUMO

BACKGROUND AND AIM: Cytochrome c oxidase (COX) deficiency represents a heterogeneous group of disorders. Numerous proteins are required for efficient COX assembly and maintenance. In 26 children with isolated COX deficiency, we studied mutations in the SCO2 gene, which is involved in the copper transport into the inner mitochondrial membrane, and we analysed the clinical and biochemical consequences of SCO2 mutations. METHODS: The activities of respiratory chain complexes were measured spectrophotometrically in isolated mitochondria and/or crude cell extracts in all available tissues. Two-dimensional polyacrylamide electrophoresis (2D-PAGE) was used to separate the complexes and their subunits. The mutations were detected by sequencing and RFLP analysis. RESULTS: Mutations in the SCO2 gene were found in six children. Early neonatal onset of hypertrophic cardiomyopathy and encephalopathy were observed in one boy with compound heterozygous mutations C1280T and G1541A. In all five children with homozygous mutation G1541A, progressive encephalopathy developed between 2 and 6 mo of age. Isolated COX deficiency was found in the skeletal muscle, heart, liver and brain but not in fibroblasts. 2D-PAGE in the skeletal muscle showed markedly decreased amounts of all COX subunits. CONCLUSION: Our results suggest that mutations in the SCO2 gene are not rare, at least in our population. Although clinical symptoms may rely on the type of SCO2 mutation, the prognosis is unfavourable in all patients.


Assuntos
Deficiência de Citocromo-c Oxidase/genética , Proteínas/genética , Encefalopatias/genética , Cardiomiopatia Hipertrófica/genética , Proteínas de Transporte , Criança , Complexo de Proteínas da Cadeia de Transporte de Elétrons/análise , Eletroforese em Gel Bidimensional , Humanos , Mitocôndrias/química , Proteínas Mitocondriais , Mutação
19.
Ceska Gynekol ; 68(2): 89-94, 2003 Mar.
Artigo em Tcheco | MEDLINE | ID: mdl-12749176

RESUMO

OBJECTIVE: Presentation of preimplantation genetic diagnosis and the set of laboratory processes like aspiration, preparation and evaluation of polar bodies, sperm cells and blastomeres using FISH method (fluorescent in situ hybridization) in ART. DESIGN: Review. SETTING: Sanatorium REPROMEDA, Brno, Veterinary Research Institute, Brno. METHODS: Overview of published data and own clinical experience with the cell aspiration methods, evaluated sample preparation and the proper chromosomes visualisation using FISH method. CONCLUSION: The review brings an overview of conditions and methods including sample obtaining, FISH analysis preparation and implementation, processed during PGD.


Assuntos
Transtornos Cromossômicos/diagnóstico , Hibridização in Situ Fluorescente/métodos , Diagnóstico Pré-Implantação/métodos , Feminino , Humanos , Gravidez
20.
Clin Nutr ; 21(2): 151-6, 2002 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-12056788

RESUMO

BACKGROUND: Methionine loading test is commonly used to detect hyperhomocysteinemia in patients with arteriosclerosis and other conditions. As administration of methionine causes endothelial dysfunction in laboratory examinations, we explored whether loading with this compound leads to clinically relevant adverse effects, especially in vasculature. METHODS AND RESULTS: When studying genetic factors in arteriosclerosis we recorded acute complications during a standard methionine loading test (with a dose of 100 mg/kg bw) and assessed a 30-day mortality in a group of 296 patients with coronary artery or peripheral arterial disease and in 591 controls. Acute complications were observed in 33% of the women and 16.5% of the men. For each sex, the patients and controls exhibited the same proportion of complications. The most common symptom, dizziness, was attributable to methionine loading. In addition, isolated sleepiness, nausea, polyuria and decreased or increased blood pressure were observed in part of the subjects. None of the 887 individuals died within the 30-day period following the test. CONCLUSION: Our study suggests that although standard loading with L-methionine frequently causes transitory complications impairing perception and vigilance, the test does not have serious adverse effects on vasculature and may be considered a safe procedure.


Assuntos
Arteriosclerose/complicações , Homocisteína/metabolismo , Hiper-Homocisteinemia/diagnóstico , Metionina/efeitos adversos , Pressão Sanguínea/efeitos dos fármacos , Estudos de Coortes , Tontura/etiologia , Estudos Epidemiológicos , Feminino , Humanos , Hiper-Homocisteinemia/etiologia , Masculino , Pessoa de Meia-Idade , Náusea/etiologia , Polímeros , Segurança
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