[Outcome of clinical follow-up of maternal malignant tumors indicated by abnormal NIPT signals].

OBJECTIVE

To assess the clinical value of non-invasive prenatal testing (NIPT) for identifying maternal malignant tumors.

METHODS

A retrospective analysis was carried out on pregnant women undergoing Non-invasive prenatal testing (NIPT) at Taizhou Hospital in Zhejiang Province from January 2018 to December 2022. The criteria included maternal copy number variations for at least two chromosomes. Clinical follow-up data were obtained for the high-risk population of maternal malignant tumors through telephone follow-up and review of electronic medical records. This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.: K20250339).

RESULTS

Among 45 141 NIPT samples, 6 (0.013%) were suggested to have maternal malignant tumors. Follow-up information was available for 5 patients (83.3%). Two cases were diagnosed with maternal malignant tumors, including 1 myelodysplastic syndrome and 1 pelvic malignant tumor. Two cases were found to have multiple uterine fibroids and 1 was lost during follow-up.

CONCLUSION

The abnormal copy number indicated by NIPT may serve as an early signal for maternal malignant tumors. To establish a systematic follow-up protocol and multidisciplinary collaboration are conducive to achieving early diagnosis of tumors and improving the prognosis of patients. Based on the results of this study, it is recommended that for pregnant women with unexplained copy number variations and suspected maternal tumors by NIPT, targeted tumor screening program should be implemented to optimize their clinical management.