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Abstracts of the 19th Annual Meeting of the ESHRE, Madrid, Spain 2003 17:30±18:00 O-083. Rare and common disease genes in a genetic isolate Coping with infertility Peltonen L. Monday 30 June 2003 Europa 17:00±17:30 O-080. Coping, stress and their effect on treatment outcome Demyttenaere K. Abstract not received 17:30±18:00 O-081. Counselling in infertility Bitzer J. UniversitaÈts-Frauenklinik, Kantonsspital Basel, Basel, Swizerland Counselling in infertility may be de®ned as an integrated part of help for the infertile couple by means of verbal and non-verbal communication in the context of a professional relationship. The aims are: (i) creating awareness of individual responses and ways of coping with the infertility crises and the motivational background of the individual wish for a child (insight); (ii) transmitting knowledge about factors contributing to fertility and infertility (empowerment and knowledge); (iii) help in the decision making processes regarding ways to resolve the problem of infertility (self-determination and informed decision making); (iv) increasing the effectivity and tolerability of the treatment (competence and coping skills); (v) help to cope again successful treatment and treatment termination (adaptation and coping skills). Counselling can be understood as an interactive process that is subdivided into two major phases: the assessment and clari®cation phase and the search for solution and treatment phase. The assessment and clari®cation phase consists of six steps: introduction and initiation of a working aliance; problem assessment and monitoring; clari®cation about problem de®nition and negotiation about objectives and priorities; exchange of hypotheses and decision making concerning diagnostic procedure; investigations and diagnostic procedures; information giving about results. The search for solution and treatment phase consists of four steps: elaboration of options to resolve the infertility problem; decision making about speci®c options; treatment procedures; evaluation of outcome. There are two continous interpersonal tasks: establishing a therapeutic relationship and information exchange. Furthermore, there are phase speci®c tasks related to the different steps during the process which include specialized skills, such as assessement of psychosocial risks, helping in decision making processes, teaching coping skills, etc. The continous tasks have to be met by all members of the infertility team. This needs training and supervision. The specialized tasks have to be usually undertaken by specially trained counsellors who are either integrated into the infertility team or part of a psychotherapeutic network of cooperation with centres or reproductive medicine. Patient satisfaction questionnaires, video tapes, critical incident reports and supervision of the infertility team are necessery instruments of continous evaluation. Monday 30 June 2003 AmeÂrica Vlietinck R. Abstract not received The Human Genome Project has produced a high number of catalogued sequence variants enabling genome-wide studies of genetic loci behind common disease-related phenotypes. Multiple uncertainties must be solved before the best possible strategy for the gene hunt can be designed and large-scale genome-wide investigations undertaken. Which phenotypes to include, which study population (isolated or outbred) to choose, which type of markers to be employed (multiallelic or SNPs), and how to select the variants to be genotyped? Rapidly increasing information of the structural or functional variability within the genome (long range rearrangements, patterns of gene expression) will also affect the interpretation of data. Population isolates like Finland, have been very useful for mapping and cloning genes for rare disorders; in such isolates genetic drift leads to an overabundance of disease-alleles for particular disorders, and a high proportion of patients share these alleles, identical by descent. The concept that the isolates are similarly advantageous for genetic studies of common diseases has been challenged, and only few samples exist to prove if it really would be more straightforward in such populations to detect disease-related haplotype signatures through association studies. The age, growth pattern, and degree of historical isolation of a population determine the average length of shared haplotypes around a disease mutation, among affected individuals. Detailed information of the population history is increasingly understood as the crucial factor in genetic studies of common diseases. In this paper I describe the features of the Finnish population and our efforts to search for disease loci for rare and common phenotypes to exemplify strategies to identify disease genes using various Finnish data sets and study samples. Both the LD intervals in general alleles and the prevalence of disease mutations are strikingly different in different regional subpopulations re¯ecting differences in population history even within this homogeneous population. We have relied on excellent health care and population registers, and used genealogical information to construct large pedigrees with multiple affected individuals originating from regional subisolates. Initial genotyping has been carried out with maximally informative multiallelic markers facilitating monitoring of shared haplotypes among affected family members to identify the putative target regions for further analysis. These regions have been followed by dense SNP mapping and statistical analyses combining the power of linkage and association. This strategy has exposed several rare disease genes and well-de®ned critical chromosomal regions in common diseases like multiple sclerosis. Even potential predisposing DNA-variants have been identi®ed in phenotypes like lactose intolerance and familial combined hyperlipidemia. The general signi®cance of these variants remains to be veri®ed in different population cohorts and by functional studies. Paramedical/Laboratory Monday 30 June 2003 Londres Complex genetic disease O-082. Association studies versus linkage studies Department of Molecular Medicine, National Public Health Institute, University of Helsinki, Finland and Department of Human Genetics, David Geffen School of Medicine at UCLA, USA 17:00±17:30 17:00±17:15 O-084. Quality control for oocyte puncture needles by mouse embryo assay Lierman S., Dumortier F., Liu J., Heindryckx B., Van der Elst J. and Dhont M. Ghent University Hospital, Infertility Centre, Ghent, Belgium Introduction: The aim was to compare the performance of two commercially available single lumen follicle puncture needles for human xviii29