2008 Barcelona - European Society of Human Genetics

EMPAG Posters
their own home .
It emerged from the analysis that different approaches were taken by
participating parents before they reached a reproductive decision, and
while several factors influenced this, the first diagnosis of CF in the
family had a particularly significant influence. Parents in this study appeared
to have undergone an adaptation process during which they
overcame the initial shock of a CF diagnosis in their child, developed
a more positive outlook based largely on their own experiences of CF,
and then felt able to address further reproductive decisions . However,
following adaptation, some differences between the sexes emerged .
Women frequently acknowledged that the decisions remained fluid
and dynamic, whereas men tended to portray a more rigid standpoint
once a particular decision had been reached . Furthermore, men and
women often felt that they had inherently different roles in reproductive
decision making, with the ultimate decision resting with the woman . In
most cases, couples felt that the decision was made together, without
significant external influence.
EP01.06
Uptake of genetic counselling and prenatal diagnostic services
for cF in ireland
D. M. Lambert1,2 , M. Morgan1 , S. Lynch2 ;
1 2 Children’s Univeristy Hospital, Dublin, Ireland, National Centre for Medical
Genetics, Dublin, Ireland.
Cystic fibrosis (CF) is a common recessive condition in Ireland with 1
in 19 carriers and 1 in 1440 affected . From January 2004 to July 2007,
76 patients were sent appointments for genetic counseling for CF: 23
(30%) were routine referrals from the CF clinic for a new CF family;
and 53 (70%) were GP referrals for positive family history .
For GP referrals the risk of being a CF carrier was: CF affected (3 .7%),
known carrier (20 .7%), 2/3 risk (22 .6%), ½ risk (41 .5%), ¼ risk (7 .5%),
population risk (1 .9%) . 66% had a partner while 34% wanted to discuss
carrier status before finding a partner. Those at higher risk of
being a carrier were more likely to wait until they had a partner before
being referred . Five of 53 (9%) were found to be at a 1 in 4 risk of CF .
Of 25 families with a child with CF, 21 of the 23 referred attended the
genetics appointment . Of the 30 families at 1 in 4 risk of CF, 15 (50%)
remained childless since . For 26 of 30 couples a molecular prenatal
diagnosis was available, with 12 having a pregnancy and 5 (42%) a
prenatal test . 4 indicated interest in pre-implantation genetic diagnosis
(PGD) . 6 families (20%) had members seen for cascade screening although
the offer was made to all . The uptake for prenatal diagnosis and
screening of family members is lower than other European countries,
perhaps reflecting the illegality of termination and PGD in Ireland.
EP01.07
Reproductive decision making in cF carrier couples; an
explorative study in couples without an affected child
J. Myring 1 , R. Sayers 2 , T. Roberts 3 , D. Scotcher 3 , M. McAllister 4,3 ;
1 Clinical Genetics, NHS Tayside, Dundee, United Kingdom, 2 Sheffield Clinical
Genetics Service, Sheffield Children’s NHS Foundation Trust, Sheffield, United
Kingdom, 3 Regional Genetics Service and Medical Genetics Research Group,
CMMC NHS Trust and University of Manchester, Manchester, United Kingdom,
4 Nowgen (A Centre for Genetic Healthcare), Manchester, United Kingdom.
We report on part of a larger research project which uses qualitative
methodology to explore the reproductive decision making process in
CF carrier couples . 5 males and 7 females from CF carrier couples
without an affected child were interviewed individually in their home, to
explore both male and female perspectives of the reproductive decision
making process .
Data analysis revealed that while couples may consider different scenarios,
the decision making process remains largely unstructured . Personal
experiences of CF were an important factor: Individuals had to
weigh up their perception of the physical difficulties of CF, the fact that
CF is not an intellectually disabling condition, and their attachment to
someone with CF . Individuals may not fully engage with their risk of
having a child with CF during the decision making process, which may
lead them to be unprepared for bad news .
Men and women may play different roles within the reproductive decision
making process . Men appeared to take on a supportive role, tending
to agree with their partner . Women felt that the decision was mutual
and intuitive, possibly due to this support from their partner . Both
partners felt that ultimately, the decision was primarily the woman’s;
influenced by the physical attachment to pregnancy and possibly their
role as primary carer .
CF carrier couples who have a healthy child in their first at-risk pregnancy
may feel that they have “used up their luck”, which may lead to
a decision to limit family size .
EP01.08
Ancestry-based preconceptional cF and HbPs carrier screening
in a multi-ethnic population: attitude and participation,
psychological outcomes, reproductive intentions and
satisfaction
P. Lakeman, A. M. C. Plass, L. Henneman, P. D. Bezemer, M. C. Cornel, L. P.
ten Kate;
VU University Medical Center, Amsterdam, The Netherlands.
Objective: to investigate attitude and participation, psychological outcomes,
reproductive intentions and satisfaction in ancestry-based preconceptional
carrier screening for cystic fibrosis (CF) and hemoglobinopathies
(HbPs) .
Methods: 9,453 individuals were offered carrier-testing, which was
conditional on survey-participation . Eligible for test-participation were
invitees who were planning a pregnancy with their partner . Both partners’
ancestry determined eligibility for the CF and/or HbP-test(s) . Data
were gathered with structured questionnaires, one of which was based
on the Theory of Planned Behaviour, among 418 invitees of whom 247
refrained from testing and 171 intended to participate in the testing,
but of whom 143 actually did . Non-Western participants (n= 46) were
under-represented .
Results: All survey-participants, Western and non-Western, had a
positive attitude towards test-participation . Among those who refrained
from test-participation, 68% would participate in this kind of screening
in the future if it became possible . Time and effort needed for participation
were important declining factors . The majority reported no
predominant feelings of stigmatization . More non-Western (23%) than
Western participants (10%) thought that there would be discrimination
against carriers . In general, the test-participants reported low levels
of anxiety, intended to draw reproductive decisions from test-results,
were satisfied and none of them regretted participation.
Conclusion: Ancestry-based preconceptional CF and HbPs carrier
screening was evaluated as positive and desirable among Western
and non-Western participants . No major adverse psychological outcomes
were reported . The effort and time needed for participation was
an important reason for declining participation, which might be overcome
by facilitating access to the screening .
EP01.09
Recruiting for reproductive choices
S. Karner 1 , B. Wieser 1 , W. Berger 2 ;
1 IFZ, Graz, Austria, 2 IFF, Klagenfurt, Austria.
Prenatal testing has become a routine practice of antenatal care .
According to international standards informed consent is a requirement
prior to testing . However, due to the introduction of non-invasive
screening (nuchal translucency measurement and the combined maternal
blood test), this arrangement is undermined in some important
ways. There is a tendency that counselling starts not before the first
screening, but only if the results are conspicuous .
In Austria antenatal care is organised in a comprehensive programme
that is mandatory for all pregnant women . The aim of this programme
is to secure the wellbeing of both the mother and her child . We argue
that because of the contextualisation of non-invasive screening into
the routine antenatal care it is difficult for pregnant women to distinguish
between mandatory and elective examinations of antenatal care .
This is especially relevant for the quality of informed consent that can
be achieved in prenatal screening and subsequent diagnostic testing
of the foetus .
The presented case addresses recruiting processes for prenatal testing
and subsequent reproductive choices . We will present data which
show how non-invasive screening has significantly changed prenatal
testing in Austria . From 2002 on there is a sharp increase in diagnosed
cases per tested pregnant woman . The current abortion rate of
Down’s syndrome foetuses is about 94% . The remaining 6% include
those who screened false-negative, decided against screening or testing,
and those who decided not to terminate the pregnancy .