Application of non invasive prenatal genetic testing in the prenatal diagnosis of Zhuhai city

Abstract

Objective To evaluate the application value of noninvasive prenatal genetic testing in prenatal diagnosis in Zhuhai area. Methods A retrospective analysis of 2 585 cases of non-invasive prenatal genetic testing results, the positive subjects was further karyotype analyzed by amniocentesis and cordocentesis. Results Among the 2 585 cases in detection, high risk in 35 cases, including 18 cases of high risk for trisomy 21, 5 cases of high risk for trisomy 18, 1 case of trisomy 13 high risk, sex chromosome abnormalities in high risk in 11 cases. By amniotic fluid, umbilical cord blood cell culture and karyotype analysis and verification, trisomy 21 high risk in 17 cases and karyotype analysis of consistent, one false positive (accurate rate was 94.4%). Eighteen trisomy high risk in 5 cases were with karyotype analysis (in accordance with an accuracy rate of 100%) trisomy 13 high risk in 1 case and karyotype analysis (in accordance with 100% accuracy). Sex chromosome abnormally high risk in 7 cases and karyotype analysis of match, the four false positive (63.6%). Conclusions Noninvasive prenatal genetic testing as a prenatal screen check method, in trisomy 21, trisomy 18, trisomy 13 detection with high accuracy, with high application value, is worthy of promotion of prenatal screening methods, as the gold standard karyotype analysis of beneficial supplement. Key words: Chromosome; Prenatal diagnosis; Down’s syndrome