[Screening for Down's syndrome: results at the Klimentská Polyclinic Screening Center 1992-1994]

Between January 1992 and March 1994 in Klimentska Screening Centre 635 second trimester amniocenteses were performed because of the risk of a chromosomal aberration. 416 (66 per cent) procedures were recommended because of the mother's age over 35 years and 219 ones (34 per cent) because of a positive screening test. Maternal serum alpha-fetoprotein and human chorionic gonadotrophin were used as screening markers in most cases. Five trisomy 21 cases in the advanced age group were detected. Serum markers were assessed in three older mothers with an affected foetus after amniocentesis. All were ex post screen positive. Three trisomy 21 foetuses of mothers younger than 35 years were detected in the screen positive group. Recent advances in screening for Down's syndrome and other congenital defects are discussed.