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.

 

 
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