genetic Counselling

To determine the current practice patterns of preimplantation genetic diagnosis (PGD) in Canada related to genetic counselling, embryo biopsy, and cytogenetic and molecular analyses. An Internet survey was constructed and administered following Dillman's tailored design method. The contact information for medical directors of all 28 Canadian IVF units was provided by Assisted Human Reproduction Canada. Seventeen of the 28 Canadian IVF units responded, 16 of which offered PGD. Of these, 35% performed embryo biopsy on site, 41% transferred embryos for biopsy to another Canadian unit, and 18% transferred embryos to the United States. Both cytogenetic and molecular analysis were performed on site in 24% of responding units, with 24% and 18% respectively performed in another Canadian unit, and 24% and 35% performed in the United States. Of the clinics that do not perform PGD, seven (41%) indicated that they would like to offer PGD but do not have the resources or expertise to make it...

This paper uses a broad definition of culture to explore the practice of transcultural genetic counseling through three case studies. The first case involves a White genetic counselor seeing an Asian family, the second, an Asian genetic counselor seeing an Asian family and the third, a hearing genetic counselor seeing a culturally Deaf client. Boundaries, transference and countertransference reactions are considered within each transcultural encounter and the author of each case reflects in detail on their role in the client interaction and their impact on the transcultural dynamic. The cases are used to illustrate some cultural beliefs or characteristics that may challenge the genetic counselor’s expectations. The value of identifying and interpreting these differences to facilitate useful clinical work is considered. The paper debates, where possible, whether it is helpful to culturally match genetic counselor and client.

It is studied the psychosocial impact of Counselling Genetic Oncology (CGO) on the participants who have received the genetic test results. A sample of 59 participants that had undertaken genetic testing and received results was assessed by The Multidimensional Impact of Cancer Risk Assessment (MICRA) Questionnaire.It was studied possible differences in psychosocial impact according to: result type of, previous oncologist diagnosis, time passed from result communication and type of hereditarysyndrome. The outcomes showed that GCO does notproduce negative psychosocial impact. There were not differences by previous diagnosis,time communication and type of hereditary syndrome on MICRA. It is necessary more research for Spanish MICRA adaptation with the purpose to dispose of a specific instrument effective for psyhosocial impact study of genetic testing.

Individuals at increased risk of developing breast cancer due to their family history of the disease face a number of uncertainties. Personal cancer risk estimates are imprecise and current methods for early detection or prevention are not 100% effective. It is therefore not surprising that adverse psychosocial outcomes have been described within this population. Research attempting to predict the incidence of distress and dysfunction in individuals at increased risk of cancer has been largely a-theoretical and has overlooked a number of potentially important predictive variables. In particular, the influence of personal experience of cancer through involvement with affected relatives has been neglected. There are strong theoretical grounds for hypothesising that dimensions of personal experience may influence response to cancer risk. This paper discusses the potential impact of personal experience on risk perception, illness representations and decision-making. Systematic research ...

We report two cases of deletion 5p or cri du chat syndrome (CdCS) with different presentations and risks of transmission: one case with paternal chromosome 5 involvement and another, a de novo case with atypical clinical presentation. Cytogenetic analysis was performed on the two cases and their parents. GTG-banded karyotype analysis of Cases 1 and 2 revealed abnormal 46,XY,del(5)(p13-15) male karyotypes. For Case 1, the mother showed normal female karyotype while the father showed an abnormal karyotype involving a balanced translocation 46,XY,t(5;10)(p13;p15). For Case 2, however, both parents showed a normal karyotype pattern. In Case 1, the clinical features, particularly the distinct facial phenotype in combination with a characteristic cat-like cry and hypotonia, aided in the diagnosis at birth and the karyotype analysis was resolutive. The boy in Case 2 presented with atypical clinical features. Even though this patient had multiple syndromic features, the typical high pitched...

The essay reconstructs the antithalassemia campaign carried out by means of population screening and pre-marriage counseling for about twenty years in Italy, immediately after the relationship between microcythemia and Cooley's anemia had been established, as well as its genetic bases. We examine the Italian contributions to the understanding of the genetics and of the clinical treatment of thalassemic disorders, and analyze the approaches to prevention as well as the results obtained by the first campaign against a genetic disease, conceived and largely implemented in Italy by Ezio Silvestroni and Ida Bianco. We discuss the resistances met by the antithalassemia campaign due to the cultural and organizational backwardness of the Italian medical community and of the public health system. Moreover we analyze the explanations and interpretations of the problematic results of these experiences in terms of morbidity reduction. It will be pointed out that the objective of genetic cou...

Sperm pathology is presented as the discipline of characterizing structural and functional deficiencies in abnormal spermatozoa. This concept complements that of sperm morphology mainly concerned with the appearance of spermatozoa. These two notions collaborate in providing correlations of prognostic value with sperm fertilizing capacity, explaining the mechanisms of sperm inefficiency, suggesting strategies to improve fertilization and opening a door to

Despite it being generally acknowledged that counseling supervision is a vital part of the work for experienced genetic counselors and not just students, not all practising genetic counselors in the United Kingdom and Eire have access to this yet. This case study documents the supervision experience of our team of genetic counselors from Cambridge in the U.K. We document our retrospective thoughts on working practice before supervision was available in our department. We also give an overview of the individual and collective views of having one-to-one supervision only and then one year later, the impact of adding group supervision. Our ‘supervision journey’ is recorded using a practitioner-centred approach with a mixed method of data collection. Two focus group discussions and two written questionnaires were used, at different time points to gather attitudes. This paper captures experiences as our practice of supervision has evolved. This work is relevant to practising genetic counselors around the world who either do not yet have access to supervision, are planning its implementation or else are adding different types of supervision to their practice.

Pericentric inversion of chromosome 19 appears to be a rare abnormality with only a few families reported. As far as we are aware, none of them were ascertained because of a recombinant individual. We describe the first identified case due to an affected patient, with duplication deficiency for chromosome 19 arising from a maternal inversion confirmed by FISH and CGH. His features included prenatal growth retardation, microcephaly, dysmorphic facies, congenital heart defect, hypoplasia of corpus callosum and psychomotor delay. The identification of recombinant individuals contribute to calculate a precise risk for inv (19) carriers and to provide a more accurate genetic counselling.

Keywords Disease name and synonyms Background-definition Prevalence and epidemiology Etiology and biological significance of antisynthetase antibodies Clinical picture Differential diagnosis Laboratory evaluation Prognosis and treatment References Abstract X-linked dominant chondrodysplasia punctata, (CDPX2 - MIM 302960) also known as Conradi- Hünermann-Happle syndrome, is a rare form of skeletal dysplasia that affects the skeleton producing short stature, asymmetric shortening of the limbs