Download Coping with infertility Complex genetic disease Paramedical

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
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