Résumé
Objective To establish a noninvasive prenatal testing(NIPT) method based on the chromosome specific site sequencing instead of the conventional whole genome sequencing.Methods Blood plasma samples from 200 pregnant women with known fetus karyotypes were collected.First,the specific loci on chromosome 13,18 and 21 were selected by the database filter.Then,these specific loci were captured by probes,and were performed sequencing.Finally,chromosome aneuploidy was identified by the Z-score.ResultsSeven fetuses with 21-trisomy syndrome,3 with 18-trisomy syndrome and 1 with 13-trisomy syndrome were detected by the chromosome specific site sequencing,and the results were accordant with those of the whole genome sequencing method.Conclusion The NIPT method based on the chromosome specific site sequencing has the advantages of low cost and high throughput,which may replace the NIPT method based on the whole genome sequencing.