2008 Barcelona - European Society of Human Genetics

EMPAG Posters
insight is gained into the processes within the nuclear and blended
family and the history of the extended family . This insight can be useful
in getting a process of change going in the way counselees cope with
the genetic information .
EMPAG POSTERS
EP01. Reproductive issues in genetics
EP01.01
How can prenatal genetic counseling be conducted in a country
where abortion is not considered as women’s right?
C. Tamura;
Ochanomizu University, Tokyo, Japan.
Abortion in Japan is primarily illegal with the exception of special reasons,
such as maternal health threats, financial difficulties, etc. Fetal
problems are not included in these exceptions . If women want abortion,
they have to ask permission from doctors and partners . When prenatal
diagnosis revealed fetal problems, doctors use a financial reason as
an excuse to allow abortion . In this way, prenatal diagnosis and selective
abortion is available . About one percent of all pregnant women
undergo amniocentesis . Professional societies established guidelines
for prenatal diagnosis, and state that it can be conducted only to test
childhood-onset severe conditions . If women want prenatal diagnosis,
doctors, often clinical geneticists, have to make ethically sound judgment,
and will tell women whether or not they can undergo testing .
Although genetics societies have certified some non-MD genetic counselors
recently, genetic counseling in Japan is supposed to be provided
by clinical geneticists, as they have done for over thirty years .
And, clinical geneticists are regarded as authorities who make ethical
judgment on prenatal diagnosis and selective abortion . Thus, genetic
counseling in Japan seems to be a place where clients need to make
an inquiry to ask permission to undergo prenatal diagnosis, and geneticists
sometimes try to convince women not to undergo testing, or
sometimes give clients permission to do it .
Appropriate prenatal genetic counseling approach in Japan should
be considered, but, it is difficult because those who are regarded as
genetic counseling providers believe that their current practice is an
appropriate way of genetic counseling in Japan .
EP01.02
PGD for BRcA - a novel clinical experience
M. Sagi, A. Eilat, N. Weinberg N, M. Werner, E. Girsh, Y. Siminovsky, E. Aizenman,
D. Abeliovich, T. Peretz, A. Simon, N. Laufer;
Hadassah University Medical Center, Jerusalem, Israel.
The option of offering PGD for BRCA1/2 to carriers who are of reproductive
age was recently discussed in the literature . This raises
medical, psychological and ethical dilemmas . Our cancer-genetic
counseling team started recently to discuss this option with young carriers
. Six women, 4 of them carrying a mutation in BRCA1 and 2 in
BRCA2, applied for further genetic and reproductive counseling in our
PGD clinic . Four of these carriers were healthy but had at least one
1 st degree relative with breast cancer (BC), and 2 were 4 years post
BC diagnosis . All women needed IVF because of coexisting infertility
. After counseling, 4 women declined the option (including the two
BC survivors who eventually conceived naturally) and 2 underwent the
PGD procedure. One of them conceived in her first treatment attempt.
In this case, 8 embryos with 7 or more cells were biopsied . The blastomeres
were analysed, using PCR for the BRCA2-6174delT mutation
together with linked polymorphic microsatellites . Four embryos were
conclusively diagnosed as BRCA2 wt, 2 of these were transferred,
leading to a twin pregnancy . Because the woman would not have terminated
a pregnancy in case of misdiagnosis, amniocentesis was not
performed. Her request to confirm the PGD in her newborns after birth
raises additional legal and ethical dilemma of testing minors for adult
onset disease .
EP01.03
Hereditary breast/ovarian cancer predisposition and
reproductive decision-making
L. Ormondroyd 1 , C. Moynihan 1 , R. Eeles 2 , G. Evans 3 , S. Lavery 4 , M. Watson 1 ;
1 Psychology Research Group, Institute of Cancer Research/Royal Marsden
NHS Foundation Trust, Sutton, United Kingdom, 2 Translational Cancer Genet-
ics Team & Cancer Genetics Unit, Institute of Cancer Research/Royal Marsden
NHS Foundation Trust, London/Sutton, United Kingdom, 3 Medical Genetics
Research Group and Regional Genetics Service, University of Manchester and
Central Manchester and Manchester Children’s University Hospitals NHS Trust,
St. Mary’s Hospital, Manchester, United Kingdom, 4 IVF Hammersmith, Queen
Charlotte’s and Hammersmith Hospital, London, United Kingdom.
Purpose: Mutations in the BRCA1 and BRCA2 genes predispose individuals
to breast, ovarian, prostate and other cancers, generally from
the mid-third decade onwards . Penetrance is not complete, and options
for substantial risk reduction are available . A subset of people cite
reproductive decision-making as a motivation for undergoing predictive
testing, but very little is known about how BRCA status impacts on
these decisions . With the recent (2006) decision by the HFEA to grant
licences for pre-implantation genetic diagnosis for late onset cancer
predisposition, this ongoing study exploring reproductive behaviour
and attitudes to prenatal testing and PGD is timely .
Method: A qualitative approach using semi-structured, in depth interviews,
analysed using interpretative phenomenological analysis .
We aim to recruit up to 40 women and men who have had a positive
BRCA1/2 predictive genetic test during the preceding 5 years,
between the ages of 18 and 45, who did not have children at the time
they were tested .
Results: Data will be presented from analysis of interviews completed
to date . Preliminary analysis indicates that BRCA status does affect
reproductive decision making in a variety of ways, including timing of
having children and number of children planned . BRCA status is also
taken into account in partner-relationship building . Prenatal testing,
either pre- or post- implantation would not be considered by interviewees
personally, although they would not object to use by other BRCA
carriers .
EP01.04
Attitudes of young women with cystic fibrosis to pregnancy and
motherhood
S. J. Kenwrick1 , E. Chapman2 ;
1 2 Addenbrooke’s Hospital, Cambridge, United Kingdom, Papworth Hospital,
Cambridge, United Kingdom.
Over the past two decades, improvements in treatment have resulted
in most patients with cystic fibrosis (CF) reaching adulthood. Consequently,
more affected individuals are becoming parents . Pregnancy is
not considered dangerous for women with mild disease and good lung
function, but health and survival may be compromised by pancreatic
insufficiency and poor lung function. Clearly, careful counselling is required
to discuss the risks of having an affected child, health risks of
pregnancy as well as how to cope with illness while raising a family .
The purpose of this pilot study was to explore psychosocial issues concerning
pregnancy and motherhood among young women with cystic
fibrosis, in order to inform reproductive counselling. Semi-structured
interviews were conducted for five women with CF, aged between 20
and 25, and transcripts subjected to qualitative, thematic analysis .
Emergent themes highlight a wide variety of issues for these women
centred around; desire for a family, health risks, relationships and communication
with others, difficulties in motherhood and the prospect of a
child with CF . The results show that young women with CF may have
varying attitudes towards pregnancy and motherhood, depending in
part on their current health, their upbringing, professional opinion and
social support available . Participants with a strong desire to have children
viewed this as a natural progression and described strategies to
cope with potential health problems . The study also highlights a number
of measures that may help in counselling these women, including
access to the experience of mothers with CF .
EP01.05
Reproductive decision making in cF carrier couples; an
explorative study in couples with an affected child
R. Jassi, W. H. Beckett, T. Roberts, M. McAllister, D. Scotcher;
Regional Genetics Service and Medical Genetics Research Group, CMMC
NHS Trust and University of Manchester, Manchester, United Kingdom.
This study is part of wider qualitative research project exploring reproductive
decision making in cystic fibrosis (CF) carrier couples. Here
we describe the personal experience of 19 participants living with the
condition because they had a child affected by CF . Men and women
in each couple were interviewed separately by different researchers in