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The purpose of this hermeneutic phenomenological study was to understand the essence of the lived experience of women after having an abnormal prenatal ultrasound. One hundred years ago, health disciplines had limited therapies for prenatal and neonatal disorders. During this period, the eugenics movement influenced leaders to involuntarily sterilize individuals who were sought to be "unfit" to prevent disorders in offspring. ... One of these contemporary reproductive genetic technologies is the use of ultrasound and serum bio-medical markers for detection of congenital, chromosome, and genetic disorders. When ultrasounds reveal abnormal findings, the perceived perfect pregnancy vanishes and gives way to feelings of shock, disbelief, fear, guilt, loss, and threats to self and their unborn baby. Twelve women who had an abnormal ultrasound were interviewed within the context of their cultural values and beliefs. The method of van Manen's hermeneutic phenomenology illuminated the meaning for these women in their life worlds. ... They endured this experience through their own coping mechanisms, but often felt uncertainty and emotional turmoil until the birth. The women also sought comfort through their cultural values, beliefs, and traditions. In coping with the risks found on this abnormal ultrasound, women often selected silence or blocking perceived threats. With these coping methods, they were alone in their suffering. ... Health providers, in not recognizing these women's misunderstandings and emotional fears, abandoned them in their psychosocial and cultural needs. The significance reveals that nurses and health providers need to infuse human caring ways of being, knowing, and doing within advanced technological environments. / by Jeanne Chatham Gottlieb. / Thesis (Ph.D.)--Florida Atlantic University, 2013. / Includes bibliography. / Mode of access: World Wide Web. / System requirements: Adobe Reader.

Made available in DSpace on 2016-04-04T18:29:24Z (GMT). No. of bitstreams: 1 Tatiana Messias.pdf: 927085 bytes, checksum: 3cdca6dadcee4ded792743072f7b01fb (MD5) Previous issue date: 2006-02-10 / The research aimed to understand psychologically mother s and couples experiences in a process of Genetic Counseling (CG) on the Perinatal Genetic Ambulatory of CAISM/ UNICAMP after the birth of a child with Neural Tube Defect compatible or not with surviving with the purpose of planning specific actions regarding the attention to mental health in that context. Ten participants were selected among the population of mothers and couples attended during the period from March, 2003 to February, 2004, based on the richness and how representative were the psychological experiences reported. The research descriptive and with an exploratory feature was developed based on the phenomenological method. It began with the researcher s insertion on the studied context as a trainee. Observations were made during the GC consultations and, in a posterior moment, interviews with the participants were conducted, stimulated by some starting questions, in two moments: immediately after the GC and about six months later. The reports, transformed in Narratives, brought elements of the parents psychological experiences both in regard to the malformed children s death and surviving, as well as meaningful interpersonal relationships with relatives, friends and medical staff. The malformation diagnosis, the decisions derived by it and the contact with the baby dead or alive was a painful experience to mothers and couples. The emphasis, however, was given to the mothers experiences because of the considerable personal transformation caused by the existence of a malformed child. All the women participants in the research experienced motherhood even those whose babies didn t survive or the ones who proceeded with early pregnancy interruption given to their babies the status of sons. The surviving of the malformed child altered essentially mother s lives and their plans about the future because demanded intensive care and dedication, many times in detriment of their own needs. In this way, although reporting certain surpass about the initial suffering, they started to live in accord to the child s progresses. Differently, but without less suffering, the mothers whose babies passed way seemed to be able to surpass part of the suffering, dealing with the emptiness derived from the suspension of the exercise of their mother capacity trough the retake of ordinary activities and plans for the future, as they recovered psychologically. Even having the parents limitations for the comprehension of the orientations they received at the GC, it was experienced positively, both in regard to the contact they had with the staff and by the fact it had become an opportunity for relieving guilt, demystification of fantasies about the origins of the pathology and better comprehension of the problem. The possibility of the researcher s insertion on the service added to the study an ethnographic feature that leaded to a wider psychological comprehension about the studied question, making possible the reflection regarding the proper institutional psychological attention to the context and phenomena on focus, generating some strategies of intervention. / A pesquisa teve como objetivo compreender psicologicamente viv?ncias de m?es e casais em processo de Aconselhamento Gen?tico (AG) no Ambulat?rio de Gen?tica Perinatal do CAISM/UNICAMP, ap?s o nascimento de um filho portador de defeito de fechamento do tubo neural - compat?vel ou n?o com a sobrevida - visando ao planejamento de a??es espec?ficas voltadas a aten??o ? sa?de mental nesse contexto. Dez participantes, atendidos naquele contexto no per?odo de mar?o/2003 a fevereiro/2004, foram selecionados tendo como crit?rios a riqueza e a representatividade das viv?ncias psicol?gicas relatadas. O estudo descritivo e de car?ter explorat?rio desenvolveu-se com base no m?todo fenomenol?gico. Iniciou-se com a inser??o da pesquisadora no ambulat?rio, na condi??o de estagi?ria. Foram realizadas observa??es durante as consultas de AG e, posteriormente, entrevistas semi-dirigidas com os participantes, estimuladas por quest?es disparadoras, em dois momentos: imediatamente ap?s o AG e cerca de seis meses depois. Os relatos, transformados em narrativas trouxeram elementos das viv?ncias psicol?gicas dos pais, tanto em rela??o ? morte quanto ? sobrevida do filho malformado, bem como de rela??es interpessoais significativas com familiares, amigos e com as equipes m?dicas. O diagn?stico da malforma??o, as decis?es dela decorrentes e o contato com o filho vivo ou morto - constitu?ram intensas viv?ncias psicol?gicas para m?es e casais. A ?nfase, por?m, foi dada ?s viv?ncias das m?es pela consider?vel transforma??o existencial em fun??o do nascimento de um filho malformado.Todas as participantes do estudo vivenciaram a maternidade, mesmo aquelas cujos filhos n?o sobreviveram ou que procederam ? interrup??o gestacional em etapa precoce do desenvolvimento fetal, e atribu?ram aos beb?s o status de filhos. A sobreviv?ncia do filho malformado, por sua vez, alterou essencialmente a vida das m?es e seus planos para o futuro, demandando delas intensos cuidados e dedica??o, muitas vezes em detrimento de suas pr?prias necessidades. Assim, embora relatassem certa supera??o em rela??o ao sofrimento inicial, passaram a viver de acordo com os progressos do filho. Diferentemente, embora n?o com menos sofrimento, as m?es cujos filhos faleceram parecem ter sido tamb?m capazes de superar parte do sofrimento ao longo do tempo, lidando com o vazio decorrente da suspens?o do exerc?cio da capacidade materna pela retomada de atividades rotineiras e de planos quanto ao futuro. Ainda que tenham existido limita??es por parte dos pais para a compreens?o das orienta??es recebidas no AG, este foi vivenciado positivamente, tanto em rela??o ao contato que tiveram com a equipe quanto ao fato de ele ter-se constitu?do numa oportunidade para al?vio da culpa, desmistifica??o de fantasias quanto ? origem da patologia e melhor compreens?o do problema. A possibilidade de inser??o da pesquisadora no servi?o acrescentou ao estudo car?ter etnogr?fico consideravelmente enriquecedor, levando a uma compreens?o psicol?gica mais abrangente da complexidade da quest?o estudada e possibilitando a reflex?o acerca da aten??o psicol?gica de car?ter institucional adequada ao contexto e ao fen?meno em foco, gerando algumas estrat?gias de interven??o.

Introdução: Com a sofisticação das técnicas de análise do DNA, a medicina moderna tem à sua disposição boas possibilidades para elucidar quadros clínicos indefinidos em pacientes que possuem microrrearranjos cromossômicos complexos. O desenvolvimento da técnica de MLPA (Multiplex ligation-dependent probe amplification) aliado à tecnologia dos arrays (WGAS - whole genome array screening) possibilitou analisar de uma só vez, diferentes regiões de interesse clínico no genoma humano. Objetivo: O presente trabalho teve como objetivo estudar pacientes com atraso de desenvolvimento neuropsicomotor (ADNPM) associado à malformação congênita (MC) com cariótipo prévio normal ou inconclusivo. Material e métodos: Participaram do estudo 71 pacientes com ADNPM associado à MC que foram analisados utilizando o teste de MLPA com os kits P036 e P064, seguido de WGAS com as diferentes plataformas (Agilent, Affymetrix e Illumina). Resultados: Entre os 33 pacientes com alterações patogênicas e de significado clínico incerto (VOUS) encontramos: 12 pacientes com deleção, 5 com duplicação e 16 com duplicações e deleções (dup/del) concomitantes. Foram 29 pacientes com alterações patogênicas conclusivas, 4 pacientes com CNVs classificadas como VOUS e 15 pacientes tiveram resultado de array normal além dos outros 23 que apresentaram alterações benignas, ou por não apresentarem genes na região alterada, ou por serem genes sem fenótipos descritos, ou ainda, as alterações foram herdadas de genitores normais. Na casuística total foram encontrados 4 pacientes com regiões de perda de heterozigosidade. Conclusões: A utilização de uma estratégia combinada utilizando diferentes kits de MLPA, com capacidade para detectar as principais microalterações genômicas patogênicas conhecidas, associada à aplicação do WGAS possibilitou a detecção de alterações submicroscópicas, bem como a correlação clínica adequada para pacientes não diagnosticados pela citogenética clássica. Dessa forma, nosso estudo sugere um novo modelo para a aplicação combinada desses testes que representa uma alternativa de bom custo-benefício para a triagem genômica e definição diagnóstica dos pacientes com quadros sindrômicos complexos e suas famílias / Introduction: The recent technological advances on DNA-based techniques have established in modern medicine good opportunities to elucidate undefined clinical cases in patients with complex chromosomal microrearrangements. The performance of MLPA (Multiplex ligation-dependent probe amplification) technique together with array technologies (WGAS - whole genome array screening) created the possibility of one single experiment to analyze different regions of interest in the human genome. Objective: Patients with psychomotor delay (PSMD) associated with multiple congenital anomalies who had normal or inconclusive G-band-karyotype (MCA) were studied in order to understand the genotype-phenotype correlations. Material and methods: This study involved 71 patients with psychomotor delay (PSMD) associated with multiple congenital anomalies (MCA) analyzed by MLPA (P036 and P064 kits), followed by WGAS different platforms (Agilent, Affymetrix e Illumina®). Results: Among 33 patients with pathogenic and uncertain (VOUS) copy number variations (CNV) were found: 12 deletions, 5 duplications and 16 concomitant duplication and deletion (dup/del). There were 29 patients with conclusive pathogenic findings, 4 patients with VOUS and 16 patients with normal array, but others 23 patients with benign results, which means there is no gene content in the region involved, or because these genes were not linked to phenotype, or even due to CNVs inherited of healthy parents. From the whole casuistic, 4 individuals presented loss of heterozygosity (LOH) regions. Conclusions: The use of a combined strategy of analysis (MLPA - WGAS) with a high capacity to detect pathogenic CNVs allows unraveling microscopic imbalances, and consequently, offers an adequate clinical correlation for patients not previously diagnosed by classical cytogenetics. In conclusion, this study suggests a new model for the combined application of these techniques, which represents an optimal alternative for a genomic screening and diagnostic establishment in patients with rare complex disorders and their families

Introdução: Com a sofisticação das técnicas de análise do DNA, a medicina moderna tem à sua disposição boas possibilidades para elucidar quadros clínicos indefinidos em pacientes que possuem microrrearranjos cromossômicos complexos. O desenvolvimento da técnica de MLPA (Multiplex ligation-dependent probe amplification) aliado à tecnologia dos arrays (WGAS - whole genome array screening) possibilitou analisar de uma só vez, diferentes regiões de interesse clínico no genoma humano. Objetivo: O presente trabalho teve como objetivo estudar pacientes com atraso de desenvolvimento neuropsicomotor (ADNPM) associado à malformação congênita (MC) com cariótipo prévio normal ou inconclusivo. Material e métodos: Participaram do estudo 71 pacientes com ADNPM associado à MC que foram analisados utilizando o teste de MLPA com os kits P036 e P064, seguido de WGAS com as diferentes plataformas (Agilent, Affymetrix e Illumina). Resultados: Entre os 33 pacientes com alterações patogênicas e de significado clínico incerto (VOUS) encontramos: 12 pacientes com deleção, 5 com duplicação e 16 com duplicações e deleções (dup/del) concomitantes. Foram 29 pacientes com alterações patogênicas conclusivas, 4 pacientes com CNVs classificadas como VOUS e 15 pacientes tiveram resultado de array normal além dos outros 23 que apresentaram alterações benignas, ou por não apresentarem genes na região alterada, ou por serem genes sem fenótipos descritos, ou ainda, as alterações foram herdadas de genitores normais. Na casuística total foram encontrados 4 pacientes com regiões de perda de heterozigosidade. Conclusões: A utilização de uma estratégia combinada utilizando diferentes kits de MLPA, com capacidade para detectar as principais microalterações genômicas patogênicas conhecidas, associada à aplicação do WGAS possibilitou a detecção de alterações submicroscópicas, bem como a correlação clínica adequada para pacientes não diagnosticados pela citogenética clássica. Dessa forma, nosso estudo sugere um novo modelo para a aplicação combinada desses testes que representa uma alternativa de bom custo-benefício para a triagem genômica e definição diagnóstica dos pacientes com quadros sindrômicos complexos e suas famílias / Introduction: The recent technological advances on DNA-based techniques have established in modern medicine good opportunities to elucidate undefined clinical cases in patients with complex chromosomal microrearrangements. The performance of MLPA (Multiplex ligation-dependent probe amplification) technique together with array technologies (WGAS - whole genome array screening) created the possibility of one single experiment to analyze different regions of interest in the human genome. Objective: Patients with psychomotor delay (PSMD) associated with multiple congenital anomalies who had normal or inconclusive G-band-karyotype (MCA) were studied in order to understand the genotype-phenotype correlations. Material and methods: This study involved 71 patients with psychomotor delay (PSMD) associated with multiple congenital anomalies (MCA) analyzed by MLPA (P036 and P064 kits), followed by WGAS different platforms (Agilent, Affymetrix e Illumina®). Results: Among 33 patients with pathogenic and uncertain (VOUS) copy number variations (CNV) were found: 12 deletions, 5 duplications and 16 concomitant duplication and deletion (dup/del). There were 29 patients with conclusive pathogenic findings, 4 patients with VOUS and 16 patients with normal array, but others 23 patients with benign results, which means there is no gene content in the region involved, or because these genes were not linked to phenotype, or even due to CNVs inherited of healthy parents. From the whole casuistic, 4 individuals presented loss of heterozygosity (LOH) regions. Conclusions: The use of a combined strategy of analysis (MLPA - WGAS) with a high capacity to detect pathogenic CNVs allows unraveling microscopic imbalances, and consequently, offers an adequate clinical correlation for patients not previously diagnosed by classical cytogenetics. In conclusion, this study suggests a new model for the combined application of these techniques, which represents an optimal alternative for a genomic screening and diagnostic establishment in patients with rare complex disorders and their families

[Truncated abstract] Background: A review of the literature indicated there was a need for more long-term randomised controlled studies on the effects of BRCA counselling/testing on high risk women, including improved strategies for risk communication. Reviews have also shown women are confused about the significance of inconclusive or non informative results with a need for more research in this area. Aims: The general aim of this study was to evaluate the impact of breast cancer genetic counselling on psychological distress levels, perception of risk, genetic knowledge and understanding of BRCA testing/test results in a cohort of 207 women from high risk breast cancer families who were referred for genetic counselling in Perth during the period 1997 to 2001. Short- and long-term impact of BRCA genetic counselling/testing was determined in women with and without cancer in a randomised controlled trial as part of which women were randomised to either receive immediate versus delayed genetic counselling. This included family communication patterns before BRCA testing, anticipated outcomes of testing on oneself and family including intentions for result disclosure. Comprehension of index and predictive BRCA testing with possible results was assessed both in the short- and the long-term and understanding of individual or family BRCA test results was evaluated at long-term. The effect of genetic counselling on breast cancer risk perception in unaffected women was evaluated. This study considered a theoretical framework of educational learning theories to provide a basis for risk communication with possible relevance for future research. ... Only 25% of the original study population (52/207) reported BRCA results and women's understanding of results is concerning. Key findings were: 1. The majority of affected women received an inconclusive result. 2. Out of twelve unaffected women who reported results, seven were inconclusive which are not congruent with predictive testing. This implies that these women did not understand their test result. 3. A minority of untested relatives did not know whether a family mutation had or had not been found in their tested family member or what their actual test result was. This implies either a lack of disclosure or that woman did not understand the rationale for and significance of testing for a family mutation. 4. Three relatives did not understand a positive result was a mutation. Conclusion: The implication of this research for breast cancer counselling and testing services is that women who wait for counselling are no worse off in terms of short- or long-term general psychological distress than women who receive the intervention early. There is a suggestion that unaffected women without the disease found counselling more advantageous than affected women. The meaning of BRCA results as reported by women is concerning particularly women's understanding of negative and inconclusive results and further research is needed in this area. Too much information presented at counselling may affect women's comprehension of risk, BRCA testing and future test results and further research is required to evaluate the effects of information overload.

A Distrofia Muscular de Duchenne/Becker (DMD/BMD) é a doença neuromuscular mais freqüente em crianças, afetando uma em cada 3.500 nascidos vivos do sexo masculino (DMD), e um em cada 20.000 (BMD). A criança nasce aparentemente saudável, com o aparecimento gradual e progressivo dos sintomas desde o primeiro ano de vida. A perda da habilidade de caminhar se dá entre os sete e 12 anos de idade, com sobrevivência rara acima dos 30 anos; e a BMD, de forma mais amena, com os mesmos sintomas aparecendo mais tardiamente. O diagnóstico se baseia nas características clínicas e na investigação genética de deleções e duplicações no gene da distrofina. Um teste preciso ainda é necessário para a identificação de mulheres portadoras. O PCR quantitativo em tempo real seria um bom ensaio para a determinação deste status.O objetivo deste trabalho foi identificar as mulheres portadoras de deleções no gene da distrofina através de PCR quantitativo em tempo real e apresentar informações diagnósticas sobre a população de meninos com DMD/BMD do RS. Informações pertinentes a 123 meninos com diagnostico clínico foram incluídos neste estudo. Após análise dos exames de DNA nos meninos estudados, os exons 47, 48 e 50 se mostraram mais frequentemente deletados na nossa população, confirmando que o segundo "hotspot" gênico é o que mais sofre alterações. Cinco mulheres com filhos com deleções nos exons 45, 47 e 51 foram testadas para estabelecimento do seu status de portadora ou não-portadora. A comparação direta dos exons específicos em relação aos mesmos em outras mulheres, determinou, com uma fácil visualização, a confirmação de três mulheres portadoras e duas não-portadoras, sendo um método preciso e efetivo. É uma abordagem prática e importante para uma utilização em casos de duplicações neste mesmo gene e em outros que necessitem deste tipo de quantificação exata. / Duchenne/Becker Muscular dystrophy (DMD/BMD) is the most frequent neuromuscular disorder in children, affecting one in every 3,500 born male boys (DMD), and one in every 20,000 (BMD). The child is born apparently healthy, with a gradual and progressive appearance of the symptoms during the first year of life. Between the ages of seven to 12, the child demonstrates a loss of the ability to walk, with rare survival above 30 years; and BMD, a milder form, with similar symptoms delayed. The diagnosis is based on the clinical characteristics and a genetic investigation of deletions and duplications in the dystrophin gene. A precise test is still necessary for the identification of carrier women. A quantitative real-time PCR would be a good assay for the determination of this status. The main goals of this study were to identify the carrier women of deletions in the dystrophin gene through the quantitative real-time PCR and to present the diagnostic information available for the population of boys with DMD/BMD in RS. Information pertaining to 123 boys with a clinical diagnosis was included in this study. After the analysis of the boy´s DNA exams, exons 47, 48, and 50 were the most frequently deleted in our population, confirming that the second genetic hospot suffers most of the alterations. Five women that bore children with deletions in exons 45, 47, and 51 were tested for the establishment of their carrier or non-carrier status. A direct comparison of the specific exons to the same ones in other women determined, with an easy visualization, the confirmation of three carrier women and two non-carrier, being a precise and effective method. It is a practical and important approach for the use in cases of duplication in this same gene and in others that may need an exact quantification.

A Distrofia Muscular de Duchenne/Becker (DMD/BMD) é a doença neuromuscular mais freqüente em crianças, afetando uma em cada 3.500 nascidos vivos do sexo masculino (DMD), e um em cada 20.000 (BMD). A criança nasce aparentemente saudável, com o aparecimento gradual e progressivo dos sintomas desde o primeiro ano de vida. A perda da habilidade de caminhar se dá entre os sete e 12 anos de idade, com sobrevivência rara acima dos 30 anos; e a BMD, de forma mais amena, com os mesmos sintomas aparecendo mais tardiamente. O diagnóstico se baseia nas características clínicas e na investigação genética de deleções e duplicações no gene da distrofina. Um teste preciso ainda é necessário para a identificação de mulheres portadoras. O PCR quantitativo em tempo real seria um bom ensaio para a determinação deste status.O objetivo deste trabalho foi identificar as mulheres portadoras de deleções no gene da distrofina através de PCR quantitativo em tempo real e apresentar informações diagnósticas sobre a população de meninos com DMD/BMD do RS. Informações pertinentes a 123 meninos com diagnostico clínico foram incluídos neste estudo. Após análise dos exames de DNA nos meninos estudados, os exons 47, 48 e 50 se mostraram mais frequentemente deletados na nossa população, confirmando que o segundo "hotspot" gênico é o que mais sofre alterações. Cinco mulheres com filhos com deleções nos exons 45, 47 e 51 foram testadas para estabelecimento do seu status de portadora ou não-portadora. A comparação direta dos exons específicos em relação aos mesmos em outras mulheres, determinou, com uma fácil visualização, a confirmação de três mulheres portadoras e duas não-portadoras, sendo um método preciso e efetivo. É uma abordagem prática e importante para uma utilização em casos de duplicações neste mesmo gene e em outros que necessitem deste tipo de quantificação exata. / Duchenne/Becker Muscular dystrophy (DMD/BMD) is the most frequent neuromuscular disorder in children, affecting one in every 3,500 born male boys (DMD), and one in every 20,000 (BMD). The child is born apparently healthy, with a gradual and progressive appearance of the symptoms during the first year of life. Between the ages of seven to 12, the child demonstrates a loss of the ability to walk, with rare survival above 30 years; and BMD, a milder form, with similar symptoms delayed. The diagnosis is based on the clinical characteristics and a genetic investigation of deletions and duplications in the dystrophin gene. A precise test is still necessary for the identification of carrier women. A quantitative real-time PCR would be a good assay for the determination of this status. The main goals of this study were to identify the carrier women of deletions in the dystrophin gene through the quantitative real-time PCR and to present the diagnostic information available for the population of boys with DMD/BMD in RS. Information pertaining to 123 boys with a clinical diagnosis was included in this study. After the analysis of the boy´s DNA exams, exons 47, 48, and 50 were the most frequently deleted in our population, confirming that the second genetic hospot suffers most of the alterations. Five women that bore children with deletions in exons 45, 47, and 51 were tested for the establishment of their carrier or non-carrier status. A direct comparison of the specific exons to the same ones in other women determined, with an easy visualization, the confirmation of three carrier women and two non-carrier, being a precise and effective method. It is a practical and important approach for the use in cases of duplication in this same gene and in others that may need an exact quantification.

A Distrofia Muscular de Duchenne/Becker (DMD/BMD) é a doença neuromuscular mais freqüente em crianças, afetando uma em cada 3.500 nascidos vivos do sexo masculino (DMD), e um em cada 20.000 (BMD). A criança nasce aparentemente saudável, com o aparecimento gradual e progressivo dos sintomas desde o primeiro ano de vida. A perda da habilidade de caminhar se dá entre os sete e 12 anos de idade, com sobrevivência rara acima dos 30 anos; e a BMD, de forma mais amena, com os mesmos sintomas aparecendo mais tardiamente. O diagnóstico se baseia nas características clínicas e na investigação genética de deleções e duplicações no gene da distrofina. Um teste preciso ainda é necessário para a identificação de mulheres portadoras. O PCR quantitativo em tempo real seria um bom ensaio para a determinação deste status.O objetivo deste trabalho foi identificar as mulheres portadoras de deleções no gene da distrofina através de PCR quantitativo em tempo real e apresentar informações diagnósticas sobre a população de meninos com DMD/BMD do RS. Informações pertinentes a 123 meninos com diagnostico clínico foram incluídos neste estudo. Após análise dos exames de DNA nos meninos estudados, os exons 47, 48 e 50 se mostraram mais frequentemente deletados na nossa população, confirmando que o segundo "hotspot" gênico é o que mais sofre alterações. Cinco mulheres com filhos com deleções nos exons 45, 47 e 51 foram testadas para estabelecimento do seu status de portadora ou não-portadora. A comparação direta dos exons específicos em relação aos mesmos em outras mulheres, determinou, com uma fácil visualização, a confirmação de três mulheres portadoras e duas não-portadoras, sendo um método preciso e efetivo. É uma abordagem prática e importante para uma utilização em casos de duplicações neste mesmo gene e em outros que necessitem deste tipo de quantificação exata. / Duchenne/Becker Muscular dystrophy (DMD/BMD) is the most frequent neuromuscular disorder in children, affecting one in every 3,500 born male boys (DMD), and one in every 20,000 (BMD). The child is born apparently healthy, with a gradual and progressive appearance of the symptoms during the first year of life. Between the ages of seven to 12, the child demonstrates a loss of the ability to walk, with rare survival above 30 years; and BMD, a milder form, with similar symptoms delayed. The diagnosis is based on the clinical characteristics and a genetic investigation of deletions and duplications in the dystrophin gene. A precise test is still necessary for the identification of carrier women. A quantitative real-time PCR would be a good assay for the determination of this status. The main goals of this study were to identify the carrier women of deletions in the dystrophin gene through the quantitative real-time PCR and to present the diagnostic information available for the population of boys with DMD/BMD in RS. Information pertaining to 123 boys with a clinical diagnosis was included in this study. After the analysis of the boy´s DNA exams, exons 47, 48, and 50 were the most frequently deleted in our population, confirming that the second genetic hospot suffers most of the alterations. Five women that bore children with deletions in exons 45, 47, and 51 were tested for the establishment of their carrier or non-carrier status. A direct comparison of the specific exons to the same ones in other women determined, with an easy visualization, the confirmation of three carrier women and two non-carrier, being a precise and effective method. It is a practical and important approach for the use in cases of duplication in this same gene and in others that may need an exact quantification.

Depuis 2018, une offre de tests de porteurs pour quatre maladies héréditaires récessives (l’acidose lactique congénitale, l’ataxie récessive spastique de Charlevoix-Saguenay, la neuropathie sensitivomotrice avec ou sans agénésie du corps calleux et la tyrosinémie héréditaire de type 1) reconnues pour être plus prévalentes dans certaines régions de la province de Québec est disponible. Les couples porteurs de maladies héréditaires font face à un processus décisionnel important concernant leur planification familiale qui peut devenir une importante source d’inconfort et de possibles regrets. L’objectif de ce projet était de décrire les besoins décisionnels des couples porteurs de l’une ou l’autre de ces quatre maladies, guidés par le modèle d’aide à la décision d’Ottawa. Pour ce faire, une étude qualitative descriptive a été effectuée. Des entrevues semi-dirigées individuelles et en couple ont été faites auprès de 39 individus porteurs ainsi que 11 professionnelles de la santé et des services sociaux. Les besoins décisionnels identifiés par les participants de l’étude incluent l’inconfort décisionnel, les rôles dans la prise de décision, les étapes de la prise de décision, la nature dynamique du processus décisionnel et les réseaux de soutien disponibles. Cette étude a permis de mettre en évidence une augmentation de l’inconfort décisionnel, particulièrement pour les couples porteurs de l’ataxie récessive spastique de Charlevoix-Saguenay et de la tyrosinémie héréditaire de type 1. À la lumière de ces résultats, des outils d’aide à la décision seront développés afin de répondre aux besoins des couples porteurs de maladies héréditaires récessives. / A national carrier screening program for four recessive diseases (Leigh syndrome, autosomal recessive spastic ataxia of Charlevoix-Saguenay, hereditary motor and sensory neuropathy with or without agenesis of the corpus callosum and hereditary tyrosinemia type 1) known to be relatively more prevalent in some parts of Quebec province is available since 2018. Carrier couples face an important decision-making process regarding their familial planning that can become a significant source of discomfort and potential regrets. Our study aimed to describe the decisional needs of couples carriers of one of the four recessive disorders according to the Ottawa Decision Support Framework. A qualitative descriptive study was conducted, and qualitative individual and joint couple interviews were performed among 39 carrier individuals and 11 health and social care professionals. Decisional needs reported by the participants of this study included decisional conflict, roles in decision-making, decisional stages, dynamics of the decision-making process and available support. Decision-making process of all four disorders, but particularly autosomal recessive spastic ataxia of Charlevoix-Saguenay French-Canadian and hereditary tyrosinemia type 1 carriers, was associated with increased decisional conflict. Considering these results, patient decision aids will be designed to meet the needs of carrier couples.