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| Analysis of the short fragments of fetal DNA enrichment to identify false positive cases of maternal origin in noninvasive prenatal testing |
| 1. Dongguan Maternal and Child Health Care Hospital，Dongguan，Guangdong Province，523107；2.School of basic medicine, Guangdong Medical University |
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Abstract To explore the clinical value of fetal DNA short fragment enrichment analysis for identifying false positive cases from maternal sources in noninvasive prenatal testing (NIPT). Methods：13 samples with NIPT false positive from maternal chromosomal abnormalities and 8 samples with NIPT false positive from placental chromosomal abnormalities were selected in this study. After sequencing by semi-conductor gene sequencing technology, the sequencing data were analyzed by fetal DNA full-fragment analysis (M method) and DNA short-fragment enrichment analysis (L method), respectively, to obtain the chromosome Z value and the corresponding chromosome position-dose distribution curve. Results: In maternal false-positive samples, the positive signal of L method was reduced compared with that of M method, which’s absolute value of Z value was decreased, and which’s line was closer to baseline 0 compared with M method on the chromosomal position-dose distribution curve. While the positive signal from the placenta sample was the opposite. Conclusion: In NIPT, DNA short fragment enrichment analysis can accurately identify the source of false positive signals from maternal sources without additional experimental costs, which has certain clinical application value.
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