Non-invasive prenatal testing (NIPT) detected chromosome aneuploidies and beyond in a clinical setting

The discovery of circulating cell-free fetal DNA (cffDNA) in maternal plasma opened up a new area in detecting fetal chromosome aneuploidies. Many studies have indicated that this technology had a high sensitivity and specificity. In this study, we have examined 4180 patients who underwent non-invasive prenatal testing (NIPT). Total of 36 cases of common trisomies (22 were trisomy 21, 8 were trisomy 18 and 6 were trisomy 13) were identified by NIPT; all were further confirmed by amniocentesis analysis except one case of trisomy 13. Moreover, four cases of subchromosome abnormalities also were identified by NIPT. Further investigations by array based comparative genomic hybridization (aCGH) revealed that the abnormality was fetal origin in two, and maternal origin in two. In addition, in one case of negative NIPT, based on ultrasound abnormality, aCGH showed a 2 M small deletion on chromosome 15. In conclusion, NIPT is a powerful tool in detecting fetal chromosome trisomy, even in subchromosome abnormalities.