3+ 4/2002 - Společnost pro pojivové tkáně

Diseases in 1982, and all of the island was
covered by this service ten years later.After
delineation of the most frequent genetic
disorders and birth defects (2,2 live birth
with NTDs, 3-7 % of the population is a carrier
of hemoglobinopathies (HbS or HbC),4
% of pregnant women over 38 years old, 3
% of the population is a carrier for CF) the
development of appropriate local technologies
and organizational clinical evaluation
together with the Mother and Child Department
of the Ministry of Health have permitted
to offer a genetic service for all the
population.
Starting by detection increased genetic
risk using prenatal serum biochemical
markers in close connection with the family
health care and later over 500 family doctors
were trained in the detection of
increased genetic risk asking the family history
at the community and its referral to
every provincial medical Genetic center.
A net of medical Genetic center was
built all over the country with facilities for
Hb electrophoresis, MSAFP determination,
US fetal monitoring, amniocentesis, chromosome
analysis and clinical genetics. The
National Reference Center also offer DNA
analysis. Enzymatic determination and
neonatal screening for PKU and is engaged
with postdoctoral medical training in medical
genetics and evaluation of the procedures.
Some research about ethical aspects
and evaluation of the services result in
a positive acceptation of the population
about this services. Still me need to be better
in some branches and to increase more
diagnostics options when the economical
situation become better.
DEVELOPMENT OF A PRIMARY
HEALTH CARE GENETIC SERVICES
FOR RURAL SOUTHERN AFRICAN
COMMUNITIES: THE ROAD TO EQUITY
AND EQALITY?
P A. Vender et al., Sovenga
In 1990 genetic service were not considered
to be part of primary Health Care
/PHC) in South Africa, specially not in the
underdeveloped poor rural African areas
where very little epidemiological information
data existed on the incidence/prevalence
of genetic disorders and birth defects.
The general perception was that congenital
disorders were not a health problem of significance
in rural South Africa. This concept
that a clinical genetic service was an inappropriate
luxury in these developing countries
obfuscated the fact that in such countries
the incidence of congenital disorders
was as high, and in certain circumstances
higher, than in industrialized countries.
The Northern Province, South Africa is
one of the poorest and most underdeveloped
vast rural areas of South Africa, inhabited
by 5,2 million people of which 95 %
are indigenous black people from the
Venda, Pedi and Shangaan tribes while
approximately 50 % are still illiterate. Most
households are still without electricity, running
water, and sanitation, while public
transport is almost non-existing with veay
pooor rail and road infrastructure, event
though most 1st World technology is on its
doorsteps but not accessible.
In 1989 a research project, „Screening
programe To Diagnose Congenital/Genetic
Abnormalities among New Born Babies At
Mankweng Hospital“ was started and is still
continuing at several Hospitals in the
Province. From this beginning this project
developed into a multiphase community-
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