PRENATAL DIAGNOSIS OF
CHROMOSOMAL ANOMALIES IN VOJVODINA FROM 1990 TO 2001
Krstic
A, Obrenovic M, Madzar R, Gacina Lj, Cihi V, Popic-Paljic F, Jovanovic
J, Kavecan I, Popadic J, Petrovacki B, Redzek T, Nikolic M
Children and Youth
Health Centar, Novi Sad, Yugoslavia
Genetic service in Vojvodina is the part of an
integrated health care service. It is continuum of an integrated programme
for population of two million inhabitants.
Objective: The goal of this study
is to present result of prenatal diagnosis in Medical Genetic Center in
Novi Sad.
Methods: During the last ten
years 10702 amniotic fluid, 870 fetal blood and 148 chorionic villi samples
were done in cytogenetic laboratory.
Results: Amniotic fluid samples (8831)
were obtained by early amniocentesis, 146 (1.65%) are pathologic
kariotypes: Down syndrome 45, pathologic kariotypes with marker chromosome
28, Edwards syndrome 8, Patau syndrome 6, Klinefelter syndrome 4, other
chromosomal anomalies were single. Fetal blood samples (1373) were
obtained by cordocentesis, 68 (4,95%) are pathologic kariotypes: Down
syndrome 21, pathologic kariotypes with marker chromosome 10, Edwards
syndrome 7, Klinefelter syndrome 4, Patau syndrome 4 and so on. Results
from chorionic villi (148 samples) show only 3 (2%) pathologic
kariotypes: 46, XX/ 46, XY, 46, XX, t (1p; 9p ), 47, XY, + 21. Prenatal
diagnosis for pregnant women under the age of 35 includes combination of
biochemical screening (AFP, hCG, uE3) and ultrasound. The second step is
early amniocentesis if it is necessary. AFP is routine and triple screening
(AFP, hCG, uE3) is still experimental. By screening we depicted 8 women
with lower AFP and out of them 3 were pathologic cases: Down syndrome, 47,
XXX and 46, XY/ 46, XX.
Conclusions:
Genetic health to all at the beginning of the 21st century is
necessity. Cost benefit analysis reveals great economic reserves being part
of such a preventive genetic health programme.