Abstract: Objective By DNA noninvasive detection and amniotic fluid cell chromosome examination of pregnant women for Down syndrome （Down 's syndrome） fetal detection results were validated. Methods Venous blood cold chain do for noninvasive detection of DNA to BGI,need to do further amniocentesis the operation of amniotic fluid cytogenetic examination. Results 1657 cases were screened in 11 cases of trisomy 21- high risk,10 cases of trisomy 21- amniotic fluid test; 3 cases of trisomy 18- high risk for trisomy 18- amniotic fluid verification; fetal sex chromosome abnormalities in 2 cases,1 cases of amniotic fluid validation was 47,1 cases of XXX. 47,XXY. Conclusion The results of noninvasive DNA test were highly consistent with the results of amniotic fluid cytogenetics.

Key words: Noninvasive DNA detection, Amniotic fluid cell, Chromosome, Verification