European Human Genetics Conference 2007 June 16 – 19, 2007 ...

Genetic counselling, education, genetic services, and public policy
was 55.13±11.20. History of diabetes, hyperlipidemia, hypertension
and obesity were seen in 22.4%, 51.9%, 32.1% and 42.3% respectively.
Familial marriage was seen in 66 patients (18.03%). There was
early onset CHD (diagnosis at less than 50 year of age) in 156 cases
(42.6%). 82% of them had positive familial pedigree in the different
familial patterns. 25.6% of cases with early onset CHD and 12.4% of
cases with late onset CHD were born from consanguineous marriage
(P=001).
Discussion: This study can assist physicians and genetic counsellors
to realize the contribution of positive familial pedigree and inheritance
pattern to cases with CHD. Identification of familial patterns and other
risk factors will provide valuable information for prevention and control
of CHD. These results can be used for next molecular analysis.
P1320. Female triple heterozygous CF allele delF508, MTHFR
C/T, MTRR A/G with fetus 69,XXX
I. J. Vasilieva1 , M. O. Mkheidze2 ;
1Municipal Centre of Medical Genetics, St.Petersburg, Russian Federation,
2Medical Academy for Postgraduate Studies, St.Petersburg, Russian Federation.
Genetic counseling claimed by the healthy couples is very rare process
in St.Petersburg and in all places of Russia. The couple consulted considers
they are healthy. Proband female 27-yr-old is Ukrainian descent
and her husband 34-yr-old is Lezghian. Proband has occupational
hazard (contact with mineral dyes). Our clients are intensive smokers.
Proband’s gynecological history is advantageous. The couple denies
congenital and inherited pathology among their relatives. The results
of laboratory investigations are the following: couple karyotype 46,XX
and 46,XY,21stk+; DNA investigation: PKU allele R408W is absent;
proband is heterozygous for cystic fibrosis allele delF508, MTHFR C/T
and MTRR A/G. She had higher level of blood homocystine (17.4 micromole/l
vs. 5-15micromole/l). After medication during 3 months with
Elevit (folic acid, VitB1 and VitB12) the level of blood homocystine was
decreased to 8,9 micromole/l. Proband broke off medicine intake. She
got pregnant soon after that. At 11th weeks of gestation oedema of
fetus generalized, particularly of the back region of neck, was revealed
with US investigation. The fetal material was obtained by biopsy of the
chorionic villi. The fetus karyotype was found to be 69,XXX and this
pregnancy was interrupted. We continue our genetic support of this
couple.
P1321. Cross-cultural Communication in Genetic Services:
Bridging the gap
V. Anastasiadou1,2 , T. Delikurt1 , K. Theochari1 , A. Kotti2 , E. Spanou1 ;
1 2 Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus, Archbishop
Makarios III Hospital, Nicosia, Cyprus.
The two major communities (Greek and Turkish Cypriot) in Cyprus
were separated by a border since 1974. The sharing of healthcare
services, between the two communities became very difficult. Recently
efforts of bringing the two communities together have been underway.
Ethnic background and differences should not interfere with healthcare.
Cross-cultural gaps and communication problems are often obstacles
in the provision of healthcare services. Furthermore, the importance
of a `multidisciplinary` team is known to be essential for the best care
of patients with rare disorders as are genetic conditions. Communication
between healthcare professionals, therapists and patients within
such a team is fundamental. The multicultural composition of Cyprus
creates need for a network to establish new and expand the existing
channels of communication between such professionals.
Attempt to create a network in the care and referral of patients, living
with or at risk of genetic or inherited conditions in both communities
in Cyprus officially began in December 2006 although was in design
since May 2006. Through this network, professionals will be able to
collaborate, exchange ideas and assist each other with the common
goal of assuring efficient and sustainable patient care. Also the patients
are invited to share problems, experiences and hopes while
contributing in building a network for better communication and multidisciplinary
care.
The first steps of networking and bridging the gap will be presented as
a poster. Furthermore the problems (practical, cross-cultural and others)
we encountered as the professionals who originated this network
and partnership will be discussed.
P1322. Technical validation of a system for cystic fibrosis
newborn screening
M. J. Somerville1 , S. L. Bleoo1 , L. Podemski1 , R. Kelln1 , B. G. Elyas1 , L. M.
Vicen1 , C. Revers1 , F. J. Bamforth1 , P. J. Bridge2 , M. E. Lyon2 ;
1 2 University of Alberta, Edmonton, AB, Canada, University of Calgary, Calgary,
AB, Canada.
Newborn screening for cystic fibrosis has recently been implemented
for the province of Alberta, Canada. We were assigned the task of developing
a comprehensive cystic fibrosis screening system for the approximately
42,000 births per year in this province. We assessed the
effectiveness of a process designed to maximize diagnostic sensitivity
and specificity. Initial immunoreactive trypsinogen (IRT) measurement
was carried out with the top 2% as a cutoff for cystic fibrosis transmembrane
conductance regulator (CFTR) gene mutation analysis. Validation
of four DNA extraction methods from dried blood spots on newborn
screen requisitions was followed by assessment of three CFTR
mutation detection protocols. These mutation detection protocols were
validated by analysis of 45 genotype controls and a test set of 5,000
newborn blood spot samples, 2,000 of which were screened in parallel
at two sites, prior to initiation of the newborn screening program. From
these assessments, a system has been developed that incorporates
standardized extraction and targeted analysis of common mutations
as a primary screen. Clinical assessment of mutation-positive cases
includes confirmatory testing, as well as full CFTR coding sequence
screening for point mutations and intragenic rearrangements.
P1323. Professional accounts of inheritance in Type 2 Diabetes
and Coronary Artery Disease involving ethnic minority groups
A. J. Clarke, S. Sarangi, M. Bekkers, U. Raisanen, P. Boddington;
Cardiff University, Cardiff, Wales, United Kingdom.
The incidence of common, complex disorders such as diabetes type
2 (T2D) and coronary artery disease (CAD) is known to vary between
populations. We have examined the published literature and conducted
interviews with a range of professionals - clinicians, laboratory
scientists and public health specialists - to assemble and compare the
explanations put forward to account for the higher incidence of these
conditions among UK South Asians and aboriginal groups in Australia.
There are potentially important consequences for health and social
policy of the different explanations proposed, as well as implications
for responsibility and blame at individual, family and community levels.
In this presentation, we analyse interview data (from researchers,
health professionals and support group representatives in the UK) using
the methodology of rhetorical discourse analysis, by paying particular
attention to how explanations of `inheritance’ are framed and
justified in these accounts. Our findings suggest that `inheritance’ is
articulated in multiple senses to include genetic, cultural and familial
meanings, while allusion is made to lifestyle choices. This nuanced
notion of inheritance is explored further by linking our analysis to notions
of `agency’, `responsibility’ and `blame’. We also report patterns
of difference across and within the professionals’ accounts.
P1324. The reproductive choices made by South African
mothers who have children with Down syndrome
J. C. Lampret 1 , A. L. Christianson 2 ;
1 National Health Laboratory Service and University of the Witwatersrand, Johannesburg,
South Africa, 2 National Health Laboratory Service, Johannesburg,
South Africa.
Down syndrome is the commonest cause of congenital developmental
disability in industrialized countries, where it occurs in approximately
1.4 per 1000 live births. In South Africa, the birth prevalence of Down
syndrome was documented as 1.8 and 2.09 per 1000 live births in
urban and rural populations, respectively.
The aim of this study was to determine the reproductive choices of
women with a child with Down syndrome, aged 1 year or older. The
survey was conducted using a structured questionnaire. The sample
consisted of 50 women; 36 African, 4 Asian and 10 Caucasian. The
questionnaire assessed the mothers’ knowledge of Down syndrome
prior to diagnosis, what counselling was received and how this knowledge
was utilised. Information was obtained on the use of family planning,
the knowledge and use of prenatal medical genetic screening and
diagnosis, and decisions for future pregnancies. None of the mothers
had prenatal diagnosis in their pregnancy with their Down syndrome
child, but 76% (38) would want prenatal diagnosis in future pregnan-
2