无创DNA检测与羊水细胞遗传学验证

Noninvasive DNA Detection and Cytogenetic Verification of Amniotic Fluid

目的通过对孕妇进行无创DNA检测和羊水细胞染色体检查,对唐氏综合征(Down's syndrome)胎儿检出结果进行验证。方法抽取静脉血低温冷链送检至华大基因,做无创DNA检测,需要进一步做羊膜腔穿刺术的进行羊水细胞遗传学检查。结果 1657例标本中筛查出11例21-三体高风险,羊水验证10例为21-三体;3例为18-三体高风险,羊水验证为18-三体;提示胎儿性染色异常2例,羊水验证1例为47,XXX,1例为47,XXY。结论无创DNA检测与羊水细胞遗传学结果高度一致。

Objective By DNA noninvasive detection and amniotic fluid cell chromosome examination ofpregnant women for Down syndrome （Down ＇s syndrome） fetal detection results were validated. Methods Venous bloodcold chain do for noninvasive detection of DNA to BGI,need to do further amniocentesis the operation of amniotic fluidcytogenetic examination. Results 1 6 5 7 cases were screened in 1 1 cases of trisomy 2 1 - high risk,1 0 cases of trisomy21- amniotic fluid test; 3 cases of trisomy 18- high risk for trisomy 18- amniotic fluid verification; fetal sex chromosomeabnormalities in 2 cases,1 cases of amniotic fluid validation was 47,1 cases of XXX. 47,XXY. Conclusion The resultsof noninvasive DNA test were highly consistent with the results of amniotic fluid cytogenetics.Key words Noninvasive DNA detection Amniotic fluid cell Chromosome Verification