Desirable quality-control materials for the establishment of qualified external quality assessment on prenatal diagnosis of chromosomal aneuploidies

Abstract

ObjectiveTo prepare desirable quality-control materials for the establishement of qualified external quality assessment on fluorescence in situ hybridization (FISH)-detected prenatal diagnosis of chromosomal aneuploidies. MethodsFour types of amniotic fluid cell suspensions (13-trisomy, 18-trisomy, 21-trisomy and 47,XXY) were mixed together by ratio to produce mosaicism with the percentages of each aneuploidy as 10%, 20%, 30% and 40%, respectively. After being stored in liquid nitrogen of −196 °C for six months, randomly selected samples were incubated in 37 °C water, followed by cultivation, hypo-osmosis and fixation. Finally, FISH detetion was applied on them before and after external laboratory mailing, in step with detection on conventional case samples. ResultsBefore mailing, the positive rates of each aneuploidy described above were 12.8%, 23.6%, 33.8%, 44.0%, while 12.6%, 23.8%, 34.0%, 43.5% after mailing. t-test, criteria for stability assessment of quality-control materials in CANS-GL03:2006, showed no significant effect of external mailing on mosaicism since corresponding t values are lower than threshold with significance level α as 0.05 and degree of freedom as 10. ConclusionAs FISH detection showed, the mosaic cell strains prepared in current study exhibited excellent stabilities after cryopreservation in −196 °C, subculture, hypo-osmosis, fixation and external laboratory mailing, demonstrating them as reliable and promising quality-control materials for the establishment of a qualified external quality assessment on prenatal diagnosis of chromosomal aneuploidies.