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1.
Hum Reprod Open ; 2021(3): hoab024, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34322603

RESUMO

STUDY QUESTION: What are the trends and developments in pre-implantation genetic testing (PGT) in 2016-2017 as compared to previous years? SUMMARY ANSWER: The main trends observed in this 19th and 20th data set on PGT are that trophectoderm biopsy has become the main biopsy stage for PGT for aneuploidies (PGT-A) and that the implementation of comprehensive testing technologies is the most advanced with PGT-A. WHAT IS KNOWN ALREADY: Since it was established in 1997, the ESHRE PGT Consortium has been collecting and analysing data from mainly European PGT centres. To date, 18 data sets and an overview of the first 10 years of data collections have been published. STUDY DESIGN SIZE DURATION: The data for PGT analyses performed between 1 January 2016 and 31 December 2017 with a 2-year follow-up after analysis were provided by participating centres on a voluntary basis. Data were collected using a new online platform, which is based on genetic analysis as opposed to the former cycle-based format. PARTICIPANTS/MATERIALS SETTING METHODS: Data on biopsy method, diagnostic technology and clinical outcome were submitted by 61 centres. Records with analyses for more than one PGT for monogenic/single gene defects (PGT-M) and/or PGT for chromosomal structural rearrangements (PGT-SR) indication or with inconsistent data regarding the PGT modality were excluded. All transfers performed within 2 years after the analysis were included enabling the calculation of cumulative pregnancy rates. Data analysis, calculations, figures and tables were made by expert co-authors. MAIN RESULTS AND THE ROLE OF CHANCE: The current data collection from 2016 to 2017 covers a total of 3098 analyses for PGT-M, 1018 analyses for PGT-SR, 4033 analyses for PGT-A and 654 analyses for concurrent PGT-M/SR with PGT-A.The application of blastocyst biopsy is gradually rising for PGT-M (from 8-12% in 2013-2015 to 19% in 2016-2017), is status quo for PGT-R (from 22-36% in 2013-2015 to 30% in 2016-2017) and has become the preferential biopsy stage for PGT-A (from 23-36% in 2013-2015 to 87% in 2016-2017). For concurrent PGT-M/SR with PGT-A, biopsy was primarily performed at the blastocyst stage (93%). The use of comprehensive diagnostic technology showed a similar trend with a small increased use for PGT-M (from 9-12% in 2013-2015 to 15% in 2016-2017) and a status quo for PGT-SR (from 36-58% in 2013-2015 to 50% in 2016-2017). Comprehensive testing was the main technology for PGT-A (from 66-75% in 2013-2015 to 93% in 2016-2017) and for concurrent PGT-M/SR with PGT-A (93%). LIMITATIONS REASONS FOR CAUTION: The findings apply to the data submitted by 61 participating centres and do not represent worldwide trends in PGT. Details on the health of babies born were not provided in this manuscript. WIDER IMPLICATIONS OF THE FINDINGS: Being the largest data collection on PGT in Europe/worldwide, the data sets provide a valuable resource for following trends in PGT practice. STUDY FUNDING/COMPETING INTERESTS: The study has no external funding and all costs are covered by ESHRE. There are no competing interests declared. TRIAL REGISTRATION NUMBER: N/A.

2.
Hum Reprod Open ; 2020(4): hoaa043, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33033756

RESUMO

STUDY QUESTION: What are the trends and developments in preimplantation genetic testing (PGT) in 2013-2015 as compared to previous years? SUMMARY ANSWER: The main trends observed in the retrospective data collections 2013-2015, representing valuable data on PGT activity in (mainly) Europe, are the increased application of trophectoderm biopsy at the cost of cleavage stage biopsy and the continuing expansion of comprehensive testing technology in PGT for chromosomal structural rearrangements and for aneuploidies (PGT-SR and PGT-A). WHAT IS KNOWN ALREADY: Since it was established in 1997, the ESHRE PGT Consortium has been collecting data from international PGT centres. To date, 15 data sets and an overview of the first 10 years of data collections have been published. STUDY DESIGN SIZE DURATION: Collection of (mainly) European data by the PGT Consortium for ESHRE. The data for PGT cycles performed between 1 January 2013 and 31 December 2015 were provided by participating centres on a voluntary basis. For the collection of cycle, pregnancy and baby data, separate, pre-designed MS Excel tables were used. PARTICIPANTS/MATERIALS SETTING METHODS: Data were submitted by 59, 60 and 59 centres respectively for 2013, 2014 and 2015 (full PGT Consortium members). Records with incomplete or inconsistent data were excluded from the calculations. Corrections, calculations, figures and tables were made by expert co-authors. MAIN RESULTS AND THE ROLE OF CHANCE: For data collection XVI/XVII/XVIII, 59/60/59 centres reported data on 8164/9769/11 120 cycles with oocyte retrieval: 5020/6278/7155 cycles for PGT-A, 2026/2243/2661 cycles for PGT for monogenic/single gene defects, 1039/1189/1231 cycles for PGT-SR and 79/59/73 cycles for sexing for X-linked diseases. From 2013 until 2015, the uptake of biopsy at the blastocyst stage was mainly observed in cycles for PGT-A (from 23% to 36%) and PGT-SR (from 22% to 36%), alongside the increased application of comprehensive testing technology (from 66% to 75% in PGT-A and from 36% to 58% in PGT-SR). LIMITATIONS REASONS FOR CAUTION: The findings apply to the 59/60/59 participating centres and may not represent worldwide trends in PGT. Data were collected retrospectively and no details of the follow-up on PGT pregnancies and babies born were provided. WIDER IMPLICATIONS OF THE FINDINGS: Being the largest data collection on PGT worldwide, detailed information about ongoing developments in the field is provided. STUDY FUNDING/COMPETING INTERESTS: The study has no external funding and all costs are covered by ESHRE. There are no competing interests declared. TRIAL REGISTRATION NUMBER: N/A.

3.
Hum Reprod ; 32(10): 1974-1994, 2017 10 01.
Artigo em Inglês | MEDLINE | ID: mdl-29117384

RESUMO

STUDY QUESTION: How does the data collection XIV-XV of the European Society of Human Reproduction and Embryology (ESHRE) PGD Consortium compare with the cumulative data for data collections I-XIII? SUMMARY ANSWER: The 14th and 15th retrospective collection represents valuable data on PGD/PGS cycles, pregnancies and children: the main trend observed is the increased application of array technology at the cost of FISH testing in PGS cycles and in PGD cycles for chromosomal abnormalities. WHAT IS KNOWN ALREADY: Since 1999, the PGD Consortium has collected, analysed and published 13 previous data sets and an overview of the first 10 years of data collections. STUDY DESIGN, SIZE, DURATION: Data were collected from each participating centre using a FileMaker Pro database (versions 5-12). Separate predesigned FileMaker Pro files were used for the cycles, pregnancies and baby records. The study documented cycles performed during the calendar years 2011 and 2012 and follow-up of the pregnancies and babies born which resulted from these cycles (until October 2013). PARTICIPANTS/MATERIALS, SETTINGS, METHOD: Data were submitted by 71 centres (full PGD Consortium members). Records with incomplete or inconsistent data were excluded from the calculations. Corrections, calculations and tables were made by expert co-authors. MAIN RESULTS AND THE ROLE OF CHANCE: For data collection XIV-XV, 71 centres reported data for 11 637 cycles with oocyte retrieval (OR), along with details of the follow-up on 2147 pregnancies and 1755 babies born. A total of 1953 cycles to OR were reported for chromosomal abnormalities, 144 cycles to OR for sexing for X-linked diseases, 3445 cycles to OR for monogenic diseases, 6095 cycles to OR for PGS and 38 cycles to OR for social sexing. From 2010 until 2012, the use of arrays for genetic testing increased from 4% to 20% in PGS and from 6% to 13% in PGD cycles for chromosomal abnormalities; the uptake of biopsy at the blastocyst stage (from <1% up to 7%) was only observed in cycles for structural chromosomal abnormalities, alongside the application of array comparative genomic hybridization. LIMITATIONS, REASONS FOR CAUTION: The findings apply to the 71 participating centres and may not represent worldwide trends in PGD. WIDER IMPLICATIONS OF THE FINDINGS: The annual data collections provide an important resource for data mining and for following trends in PGD/PGS practice. STUDY FUNDING/COMPETING INTEREST(S): None.


Assuntos
Hibridização Genômica Comparativa , Recuperação de Oócitos , Taxa de Gravidez , Diagnóstico Pré-Implantação/métodos , Coleta de Dados , Bases de Dados Factuais , Feminino , Seguimentos , Testes Genéticos , Humanos , Masculino , Gravidez , Resultado da Gravidez , Estudos Retrospectivos
4.
Nature ; 534(7609): 662-6, 2016 06 30.
Artigo em Inglês | MEDLINE | ID: mdl-27324847

RESUMO

Hot Jupiters are giant Jupiter-like exoplanets that orbit their host stars 100 times more closely than Jupiter orbits the Sun. These planets presumably form in the outer part of the primordial disk from which both the central star and surrounding planets are born, then migrate inwards and yet avoid falling into their host star. It is, however, unclear whether this occurs early in the lives of hot Jupiters, when they are still embedded within protoplanetary disks, or later, once multiple planets are formed and interact. Although numerous hot Jupiters have been detected around mature Sun-like stars, their existence has not yet been firmly demonstrated for young stars, whose magnetic activity is so intense that it overshadows the radial velocity signal that close-in giant planets can induce. Here we report that the radial velocities of the young star V830 Tau exhibit a sine wave of period 4.93 days and semi-amplitude 75 metres per second, detected with a false-alarm probability of less than 0.03 per cent, after filtering out the magnetic activity plaguing the spectra. We find that this signal is unrelated to the 2.741-day rotation period of V830 Tau and we attribute it to the presence of a planet of mass 0.77 times that of Jupiter, orbiting at a distance of 0.057 astronomical units from the host star. Our result demonstrates that hot Jupiters can migrate inwards in less than two million years, probably as a result of planet­disk interactions.

5.
Hum Reprod ; 30(8): 1763-89, 2015 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-26071418

RESUMO

STUDY QUESTION: How do data in the 13th annual data collection (Data XIII) of the European Society of Human Reproduction and Embryology (ESHRE) PGD Consortium compare with the cumulative data for collections I-XII? SUMMARY ANSWER: The 13th retrospective collection represents valuable data on PGD/PGS cycles, pregnancies and children: the main trend observed is the decrease in the routine implementation of PGS. WHAT IS KNOWN ALREADY: Since 1999, the PGD Consortium has collected, analysed and published 12 data sets and an overview of the first 10 years of data collections. STUDY DESIGN, SIZE, DURATION: Data were collected from each participating centre using a FileMaker Pro database (versions 5-11). Separate predesigned FileMaker Pro files were used for the cycles, pregnancies and baby records. The study documented cycles performed during the calendar year 2010 and follow-up of the pregnancies and babies born which resulted from these cycles (until October 2011). PARTICIPANTS/MATERIALS, SETTING, METHODS: Data were submitted by 62 centres (full PGD Consortium members). The submitted data were thoroughly analysed to identify incomplete data entries and corrections were requested from the participating centres. Records remaining with incomplete or inconsistent data were excluded from the calculations. Corrections, calculations and tables were made by expert co-authors. MAIN RESULTS AND THE ROLE OF CHANCE: For data collection XIII, 62 centres reported data for 5780 cycles with oocyte retrieval (OR), along with details of the follow-up on 1503 pregnancies and 1152 babies born. A total of 1071 OR were reported for chromosomal abnormalities, 108 OR for sexing for X-linked diseases, 1574 OR for monogenic diseases, 2979 OR for preimplantation genetic screening and 48 OR for social sexing. LIMITATIONS, REASONS FOR CAUTION: The findings apply to the 62 participating centres and may not represent worldwide trends in PGD. WIDER IMPLICATIONS OF THE FINDINGS: The annual data collections provide an important resource for data mining and for following trends in PGD practice. STUDY FUNDING/COMPETING INTERESTS: None.


Assuntos
Aberrações Cromossômicas/estatística & dados numéricos , Recuperação de Oócitos/estatística & dados numéricos , Resultado da Gravidez , Taxa de Gravidez , Técnicas de Reprodução Assistida/estatística & dados numéricos , Adulto , Coleta de Dados , Bases de Dados Factuais , Europa (Continente) , Feminino , Seguimentos , Testes Genéticos , Humanos , Gravidez , Diagnóstico Pré-Implantação/métodos , Estudos Retrospectivos
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.
Hum Reprod ; 27(7): 1887-911, 2012 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-22572107

RESUMO

The 11th report of the European Society of Human Reproduction and Embryology Preimplantation Genetic Diagnosis Consortium is presented, documenting cycles collected for the calendar year 2008 and follow-up of the pregnancies and babies born until October 2009 which resulted from these cycles. Since the beginning of the data collections, there has been a steady increase in the number of cycles, pregnancies and babies reported annually. For data collection XI, 53 centres have participated, reporting on 5641 cycles to oocyte retrieval (OR), along with details of the follow-up on 1418 pregnancies and 1169 babies born. A total of 774 OR were reported for chromosomal abnormalities, 96 OR for sexing for X-linked diseases, 1363 OR for monogenic diseases, 3401 OR for preimplantation genetic screening and 5 OR for social sexing. Data XI is compared with the cumulative data for data collections I-X.


Assuntos
Diagnóstico Pré-Implantação/métodos , Técnicas de Reprodução Assistida/tendências , Aberrações Cromossômicas , Coleta de Dados , Europa (Continente) , Feminino , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , Heterozigoto , Humanos , Hibridização in Situ Fluorescente , Masculino , Recuperação de Oócitos , Gravidez , Resultado da Gravidez , Análise para Determinação do Sexo , Fatores Sexuais , Sociedades Médicas , Resultado do Tratamento
8.
Hum Reprod Update ; 18(3): 234-47, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22343781

RESUMO

BACKGROUND: Since it was established in 1997, the ESHRE PGD Consortium has been collecting data from international preimplantation genetic diagnosis (PGD) centres. Ten papers have been published, including data from January 1997 to December 2007. METHODS: The data collection originally used a hard-copy format, then an excel database and finally a FileMaker Pro database. The indications are divided into five categories: PGD for chromosome abnormalities, sexing for X-linked disease, PGD for single gene defects, preimplantation genetic screening (PGS) and PGD for social sexing. The main end-points are pregnancy outcome and follow-up of deliveries. RESULTS: In data collection I, 16 centres contributed data, which increased to 57 centres by data X (average of 39 centres per data collection). These centres contributed data on over 27 000 cycles that reached oocyte retrieval. Of these cycles, 61% were for aneuploidy screening, 17% for single gene disorders, 16% for chromosomal abnormalities, 4% for sexing of X-linked disease and 2% for social sexing. Cumulatively, 5187 clinical pregnancies gave rise to 4140 deliveries and 5135 newborns (singletons: 3182, twins: 921, triplets: 37). CONCLUSIONS: In this paper, we present an overview of the first 10 years of PGD data, highlighting trends. These include the introduction of laser-assisted biopsy, an increase in polar body and trophectoderm biopsy, new strategies, methodologies and technologies for diagnosis, including recently arrays, and the more frequent use of freezing biopsied embryos. The Consortium data reports represent a valuable resource for information about the practice of PGD.


Assuntos
Aberrações Cromossômicas , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , Diagnóstico Pré-Implantação/métodos , Aneuploidia , Coleta de Dados , Bases de Dados Factuais , Feminino , Genes Ligados ao Cromossomo X , Testes Genéticos , Humanos , Gravidez , Resultado da Gravidez , Diagnóstico Pré-Implantação/estatística & dados numéricos
9.
Hum Reprod ; 26(1): 33-40, 2011 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-20966462

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 a number of new technologies as well as the 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, as in the original publication, these 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-based testing, Amplification-based testing and Polar Body and Embryo Biopsy for PGD/preimplantation genetic screening. Here, we have updated the sections that pertain to amplification-based PGD. Topics covered in this guideline include inclusion/exclusion criteria for amplification-based PGD testing, preclinical validation of tests, amplification-based testing methods, tubing 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
Técnicas de Amplificação de Ácido Nucleico , Diagnóstico Pré-Implantação/métodos , Contaminação por DNA , Análise Mutacional de DNA/métodos , Análise Mutacional de DNA/normas , Humanos , Laboratórios/organização & administração , Laboratórios/normas , Técnicas de Amplificação de Ácido Nucleico/instrumentação , Diagnóstico Pré-Implantação/instrumentação , Diagnóstico Pré-Implantação/normas , Análise de Célula Única
10.
Hum Reprod ; 25(11): 2685-707, 2010 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-20813804

RESUMO

The 10th report of the European Society of Human Reproduction and Embryology (ESHRE) PGD Consortium is presented, documenting cycles collected for the calendar year 2007 and follow-up of the pregnancies and babies born until October 2008 which resulted from these cycles. Since the beginning of the data collections there has been a steady increase in the number of cycles, pregnancies and babies reported annually. For data collection X, 57 centres participated, reporting on 5887 cycles to oocyte retrieval (OR), along with details of the follow-up on 1516 pregnancies and 1206 babies born. A total of 729 OR were reported for chromosomal abnormalities, 110 OR for sexing for X-linked diseases, 1203 OR for monogenic diseases, 3753 OR for preimplantation genetic screening and 92 OR for social sexing. Data X is compared with the cumulative data for data collections I-IX.


Assuntos
Taxa de Gravidez , Diagnóstico Pré-Implantação/estatística & dados numéricos , Europa (Continente) , Feminino , Genes Ligados ao Cromossomo X , Testes Genéticos , Humanos , Hibridização in Situ Fluorescente , Recuperação de Oócitos , Gravidez , Resultado da Gravidez , Análise para Determinação do Sexo , Sociedades Médicas
11.
Nature ; 464(7287): 384-7, 2010 Mar 18.
Artigo em Inglês | MEDLINE | ID: mdl-20237564

RESUMO

Of the over 400 known exoplanets, there are about 70 planets that transit their central star, a situation that permits the derivation of their basic parameters and facilitates investigations of their atmospheres. Some short-period planets, including the first terrestrial exoplanet (CoRoT-7b), have been discovered using a space mission designed to find smaller and more distant planets than can be seen from the ground. Here we report transit observations of CoRoT-9b, which orbits with a period of 95.274 days on a low eccentricity of 0.11 +/- 0.04 around a solar-like star. Its periastron distance of 0.36 astronomical units is by far the largest of all transiting planets, yielding a 'temperate' photospheric temperature estimated to be between 250 and 430 K. Unlike previously known transiting planets, the present size of CoRoT-9b should not have been affected by tidal heat dissipation processes. Indeed, the planet is found to be well described by standard evolution models with an inferred interior composition consistent with that of Jupiter and Saturn.

12.
Hum Reprod ; 24(8): 1786-810, 2009 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-19403563

RESUMO

The ninth report of the European Society of Human Reproduction and Embryology Preimplantation Genetic Diagnosis Consortium is presented documenting cycles collected for the calendar year 2006 and follow-up of the pregnancies and babies born until October 2007, which resulted from these cycles. Since the beginning of the data collections there has been a steady increase in the number of cycles, pregnancies and babies reported annually. For data collection IX, 57 centres have participated, reporting on 5858 cycles to oocyte retrieval (OR), along with details of the follow-up on 1437 pregnancies and 1206 babies born. Eight hundred and twelve ORs were reported for chromosomal abnormalities, 133 ORs for sexing for X-linked diseases, 931 ORs for monogenic diseases, 3900 ORs for preimplantation genetic screening and 82 ORs for social sexing. Data IX are compared with the cumulative data for data collections I-VIII.


Assuntos
Diagnóstico Pré-Implantação , Aberrações Cromossômicas , Transferência Embrionária , Europa (Continente) , Feminino , Doenças Genéticas Inatas/diagnóstico , Testes Genéticos/métodos , Humanos , Recuperação de Oócitos , Gravidez , Resultado da Gravidez , Taxa de Gravidez , Análise para Determinação do Sexo , Sociedades Médicas , Injeções de Esperma Intracitoplásmicas
13.
Astrobiology ; 9(1): 1-22, 2009.
Artigo em Inglês | MEDLINE | ID: mdl-19203238

RESUMO

The discovery of extrasolar planets is one of the greatest achievements of modern astronomy. The detection of planets that vary widely in mass demonstrates that extrasolar planets of low mass exist. In this paper, we describe a mission, called Darwin, whose primary goal is the search for, and characterization of, terrestrial extrasolar planets and the search for life. Accomplishing the mission objectives will require collaborative science across disciplines, including astrophysics, planetary sciences, chemistry, and microbiology. Darwin is designed to detect rocky planets similar to Earth and perform spectroscopic analysis at mid-infrared wavelengths (6-20 mum), where an advantageous contrast ratio between star and planet occurs. The baseline mission is projected to last 5 years and consists of approximately 200 individual target stars. Among these, 25-50 planetary systems can be studied spectroscopically, which will include the search for gases such as CO(2), H(2)O, CH(4), and O(3). Many of the key technologies required for the construction of Darwin have already been demonstrated, and the remainder are estimated to be mature in the near future. Darwin is a mission that will ignite intense interest in both the research community and the wider public.


Assuntos
Exobiologia/métodos , Meio Ambiente Extraterreno , Origem da Vida , Planetas , Voo Espacial , Astronomia , Teorema de Bayes , Processamento de Imagem Assistida por Computador , Astronave , Espectrofotometria Infravermelho , Astros Celestes
14.
Hum Reprod ; 23(12): 2629-45, 2008 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-18641400

RESUMO

The eighth report of the European Society of Human Reproduction and Embryology PGD Consortium is presented documenting cycles collected for the calendar year 2005 and follow-up of the pregnancies and babies born until October 2006 which resulted from these cycles. For the first time, the delivery rates for each indication are presented and also the pregnancy rates for each centre are reported anonymously. Since the first data collections, there has been a steady increase in the number of cycles, pregnancies and babies reported annually. For data collection VIII, 39 centres have participated, reporting on 3488 cycles to oocyte retrieval (OR), along with details of the follow-up on 845 pregnancies and 670 babies born. Five hundred and twenty OR were reported for chromosomal abnormalities, 108 OR for sexing for X-linked diseases, 500 OR for monogenic diseases, 2275 OR for preimplantation genetic screening and 85 OR for social sexing. Data VIII is compared with the cumulative data for data collections I-VII.


Assuntos
Diagnóstico Pré-Implantação , Aberrações Cromossômicas , Erros de Diagnóstico , Transferência Embrionária/métodos , Europa (Continente) , Feminino , Genes Dominantes , Testes Genéticos/métodos , Humanos , Gravidez , Taxa de Gravidez , Diagnóstico Pré-Implantação/efeitos adversos , Aberrações dos Cromossomos Sexuais , Análise para Determinação do Sexo , Sociedades Médicas , Injeções de Esperma Intracitoplásmicas
15.
Hum Reprod ; 23(4): 741-55, 2008 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-18238908

RESUMO

The seventh report of the ESHRE PGD Consortium is presented documenting cycles collected for the calendar year 2004 and follow-up of the pregnancies and babies born subsequent to these cycles up to October 2005. Since the beginning of the data collections, there has been a steady increase in the number of cycles, pregnancies and babies reported. For data collection VII, 45 centres have participated, reporting on 3358 cycles to oocyte retrieval (OR), 679 pregnancies and 528 babies born. Five hundred and fifty nine OR were reported for chromosomal abnormalities, 113 OR for sexing for X-linked diseases, 520 OR for monogenic diseases, 2087 OR for PGS, and 79 OR for social sexing. Data VII is compared with the cumulative data for data collections I-VI.


Assuntos
Aberrações Cromossômicas , Doenças Genéticas Inatas/diagnóstico , Taxa de Gravidez , Diagnóstico Pré-Implantação , Aborto Espontâneo/diagnóstico , Coleta de Dados , Feminino , Seguimentos , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , Humanos , Masculino , Recuperação de Oócitos , Gravidez , Resultado da Gravidez , Pré-Seleção do Sexo
16.
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
17.
Mol Hum Reprod ; 13(2): 95-101, 2007 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-17114207

RESUMO

Owing to adult onset of hereditary cancer, prenatal diagnosis (PND) raises numerous ethical issues on the acceptability to terminate an affected pregnancy (TOP). PND for these disorders is often considered as unacceptable by couples as well as geneticists and legal or ethical authorities, but preimplantation genetic diagnosis (PGD), even if subject to controversy, seems to be a more acceptable option. Therefore, many couples, who do not want to transmit their cancer to their children, consider PGD as their only reproductive option. This article describes our experience of PGD for familial adenomatous polyposis (FAP). Twelve couples were referred between 2000 and 2005. We developed PGD tests to detect the mutation alone, but we rapidly set up multiplex PCR combining mutation detection and indirect diagnosis. Finally, we set up duplex and triplex indirect diagnoses to be able to offer a PGD, whatever mutation was involved in familial cases. PGD strategies were based on (i) a new double allele-specific PCR approach (D-ARMS) allowing the detection of the wild-type and mutated allele; (ii) PCR fragments sizing and (iii) restriction length polymorphisms. For the 12 referrals, we developed eight tests, and 11 cycles have been performed for four couples, resulting in eight embryo transfers and five pregnancies, with the birth of one healthy boy and two ongoing pregnancies. We are now able to propose PGD to most couples at risk of transmitting FAP to their offspring, whether the mutation is familial or occurred de novo.


Assuntos
Polipose Adenomatosa do Colo/diagnóstico , Diagnóstico Pré-Implantação/métodos , Adulto , Blastocisto , Análise Mutacional de DNA , Feminino , Genes APC , Humanos , Masculino , Avaliação de Resultados em Cuidados de Saúde , Reação em Cadeia da Polimerase/métodos , Gravidez , Diagnóstico Pré-Natal/métodos
18.
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
19.
Hum Reprod ; 20(1): 35-48, 2005 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-15539444

RESUMO

Among the many educational materials produced by the European Society of Human Reproduction and Embryology (ESHRE) are guidelines. ESHRE guidelines may be developed for many reasons but their intent is always to promote best quality practices in reproductive medicine. In an era in which preimplantation genetic diagnosis (PGD) has become a reality, we must strive to maintain its efficacy and credibility by offering the safest and most effective treatment available. The dominant motivators for the development of current comprehensive guidelines for best PGD practice were (i) the absence of guidelines and/or regulation for PGD in many countries and (ii) the observation that no consensus exists on many of the clinical and technical aspects of PGD. As a consequence, the ESHRE PGD Consortium undertook to draw up guidelines aimed at giving information, support and guidance to potential, fledgling and established PGD centres. The success of a PGD treatment cycle is the result of great attention to detail. We have strived to provide a similar level of detail in this document and hope that it will assist staff in achieving the best clinical outcome for their patients.


Assuntos
Testes Genéticos/normas , Diagnóstico Pré-Implantação/normas , Biópsia/normas , Transferência Embrionária/normas , Europa (Continente) , Feminino , Fertilização in vitro/normas , Aconselhamento Genético , Humanos , Hibridização in Situ Fluorescente/normas , Masculino , Reação em Cadeia da Polimerase/normas , Gravidez , Sociedades Médicas
20.
Hum Reprod ; 20(1): 19-34, 2005 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-15550497

RESUMO

The ESHRE PGD Consortium was formed in 1997 to survey the practice of preimplantation genetic diagnosis (PGD). Since then, three reports have been published giving an overview on PGD from an ever-increasing number of centres and reporting on an increasing number of PGD cycles and pregnancies and babies born after PGD. After these initial influential publications, important shortcomings were identified primarily on the method of data collection, i.e. with Excel spreadsheets, and in the timing of the collection (cycles were collected in a different time frame from pregnancies and babies, making the follow-up of cycles very difficult). This is why the Steering Committee has made a major investment in developing and implementing a new database in FileMaker Pro 6. It was also decided that cycles would be collected from one calendar year, as well as the pregnancies and babies ensuing from that particular calendar year. This gave us the opportunity to take a closer look at the data collected earlier, and to attempt to improve their quality. This is a report on the corrected data from the first three data collections (I-III) as well as the result of the last data collection (IV) that was completely carried out using the new database.


Assuntos
Diagnóstico Pré-Implantação/estatística & dados numéricos , Coleta de Dados , Bases de Dados Factuais , Europa (Continente) , Feminino , Humanos , Recém-Nascido , Masculino , Gravidez , Sociedades Médicas
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