[Reliability of cytogenetic and clinical diagnostic studies. Results of analyzing 1621 pre- and postnatal studies]

Systematic quality assessment of cytogenetic studies is very important for maintaining high standards of diagnostic testing and adequate genetic service. Results of quality assessment for 714 pre- and 907 postnatal cytogenetic studies performed in the Genetic Department of the National Research Institute of Mother and Child are presented. The assessment included: reporting time, quality of chromosome preparations, reliability and success rate of the studies. Mean reporting time for blood samples was 20 days and for amniotic fluid 23 days. Chromosome banding quality was adequate to reasons for referral in 86.9% of blood samples and in 100% of amniotic fluids. The success rate for pre- and postnatal studies was 99.4 and 96.6%, respectively. The need to develop a quality assessment scheme for clinical cytogenetics in Poland is discussed.