Yinghong Lu, Na Zuo, Minxia Ning, Yuling Xie, Weiwu Liu, Sisi Ning, Yi Liang, Xiao Chen, Yuping Zhang, Jun Feng, Yunrong Qin
Increased sequencing depth can improve the detection rate of noninvasive prenatal testing (NIPT) for chromosome aneuploidies and copy number variations (CNVs). However, due to the technical limitations of NIPT, false-positives and false-negatives are inevitable. False-positives for aneuploidy and CNVs have been widely reported, but few missed cases have been reported. In this study, we report 3 patients missed by NIPT, which were still missed after increasing the sequencing depth. To verify the detection efficiency of the platform, the results of NIPT in 32,796 patients treated in Yulin Women and Children Health Care Hospital from 2020 to 2022 were retrospectively analyzed...
January 27, 2024: Scientific Reports